• Principal Investigator
  • Male

Prof. dr. R.C.M. Hennekam

Position: Professor
Main activities: Research
Specialisation: Pediatrics; Clinical Genetics; Translational Medicine
foto R.C.M. Hennekam is one of the AMC Principal Investigators
Focus of research:

Focus is directed on the clinical history of known genetic entities; pediatric aspects of care to patients with known genetic entities; translational studies; molecular dysmorphology; functional studies; and behavioral aspects of known entities. Entities that are specifically studied are autism; mental retardation; connective tissue disorders (especially Marfan syndrome, cutis laxa, and Ehlers-Danlos syndrome); disorders with abnormal blood vessel and lymph vessel formation; Hutchinson-Gilford progeria; and many specific syndromes.

AMC themes: Neurological & Psychiatric Disorders, Public Health & Epidemiology
Departments: Paediatrics: Genetics
Basart H, van Oers HA, Paes EC, Breugem CC, Don Griot JPW, van der Horst CMAM, Haverman L , Hennekam RC, Health-related quality of life in children with Robin sequence. AM J MED GENET A 2017;173A (1):54-61 [PubMed]
Casertano A, Fontana P, Hennekam RC, Tartaglia M, Genesio R, Dieber TB, Ortega L, Nitsch L, Melis D, Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. AM J MED GENET A 2017;173 (7):1896-1902 [PubMed]
de Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HYB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC, Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. MOL SYNDROMOL 2017;8 (4):172-178 [PubMed]
Fleger M, Willomitzer J, Meinsma R, Alders M, Meijer J, Hennekam RCM, Huemer M, van Kuilenburg ABP, Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?. JIMD REPORTS 2017;ahead of print [PubMed]
Huisman SA. With the body in mind. S.l.: s.n.; 2017. 201p. ISBN 978-94-90791-59-9 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Hennekam RCM; copromotor(s): van Balkom IDC)
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, Fitzpatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC, Phenotypes and genotypes in individuals with SMC1A variants. AM J MED GENET A 2017;173 (8):2108-2125 [PubMed]
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R, Self-Injurious Behavior. NEUROSCI BIOBEHAV R 2017;ahead of print [PubMed]
Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC, Nomenclature and definition in asymmetric regional body overgrowth. AM J MED GENET A 2017;173 (7):1735-1738 [PubMed]
Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE, Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. CLIN CANCER RES 2017;23 (13):E115-E122 [PubMed]
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM, Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J HUM GENET 2017;62 (4):465-471 [PubMed]
Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT, Development and validation of a severity scoring system for Zellweger spectrum disorders. CLIN GENET 2017;ahead of print [PubMed]
Kranendonk EJ, Hennekam RC, Ploem MC, Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice. EUR J PEDIATR 2017;176 (1):75-82 [PubMed]
Kranendonk EJ, Hennekam RC, Ploem MC, The Dutch legal approach regarding health care decisions involving minors in the NGS days. EUR J HUM GENET 2017;25 (2):166 [PubMed]
Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom IDC, Piening S, Behaviour in Cornelia de Lange syndrome: a systematic review. DEV MED CHILD NEUROL 2017;59 (4):361-366 [PubMed]
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC, Wiedemann-Rautenstrauch syndrome: A phenotype analysis. AM J MED GENET A 2017;173 (7):1763-1772 [PubMed]
Postema FAM, Hopman SMJ, Aalfs CM, Berger LPV, Bleeker FE, Dommering CJ, Jongmans MCJ, Letteboer TGW, Olderode-Berends MJW, Wagner A, Hennekam RC, Merks JHM, Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation. EUR J CANCER 2017;80:48-54 [PubMed]
Postema FAM, Hopman SMJ, Deardorff MA, Merks JHM, Hennekam RC, Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. AM J MED GENET A 2017;173 (8):2293-2295 [PubMed]
Postema FAM, Hopman SMJ, de Borgie CAJM, Hammond P, Hennekam RC, Merks JHM [Contributors: Aalfs CM, Anninga JK, Berger LPV, Bleeker FE, de Bont ESJM, Dommering CJ, van Eijkelenburg NKA, van den Heuvel-Eibrink MM, Jongmans MCJ, Kors WA, Letteboer TGW, Loeffen JLCM, Olderode-Berends MJW, Wagner A]] , Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study. BMJ OPEN 2017;7 (1):e013237 [PubMed]
Postema FAM, Hopman SMJ, Hennekam RC, Merks JHM, Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. PEDIATR BLOOD CANCER 2017;ahead of print [PubMed]
See P, Dutertre CA, Chen J, Günther P, McGovern N, Irac SE, Gunawan M, Beyer M, Händler K, Duan K, Sumatoh HRB, Ruffin N, Jouve M, Gea-Mallorquí E, Hennekam RCM, Lim T, Yip CC, Wen M, Malleret B, Low I, Shadan NB, Fen CFS, Tay A, Lum J, Zolezzi F, Larbi A, Poidinger M, Chan JKY, Chen Q, Rénia L, Haniffa M, Benaroch P, Schlitzer A, Schultze JL, Newell EW, Ginhoux F, Mapping the human DC lineage through the integration of high-dimensional techniques. SCIENCE 2017;356 (6342):1044-+ [PubMed]
van Kuilenburg ABP, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RLH, Dezentjé V, van Huis-Tanja LH, van Kampen RJW, Hertz JM, Hennekam RCM, Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing. BBA-MOL BASIS DIS 2017;1863 (3):721-730 [PubMed]
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP, Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. AM J MED GENET A 2017;173 (7):1739-1746 [PubMed]
Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, del Arco A, Hennekam RC, De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. AM J HUM GENET 2017;101 (5):844-855 [PubMed]
Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM, Variants in KAT6A and pituitary anomalies. AM J MED GENET A 2017;173 (9):2562-2565 [PubMed]
Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, Suri M, Boycott KM, Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. AM J MED GENET A 2016;170A (7):1820-1825 [PubMed]
Basart H. Robin Sequence: The road to evidence based personalized treatment. S.l.: s.n.; 2016. 175p. ISBN 978-94-6169-830-8 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Hennekam RC, van der Horst CMAM; copromotor(s): )
Basart H, König AM, Bretschneider JH, Hoekstra CEL, Oomen KPQ, Pullens B, Rinkel RNPM, van Gogh CDL, van der Horst CMAM, Hennekam RC, Awake Flexible Fiberoptic Laryngoscopy to diagnose glossoptosis in Robin Sequence patients. CLIN OTOLARYNGOL 2016;41 (5):467-471 [PubMed]
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM, Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. AM J HUM GENET 2016;98 (3):579-587 [PubMed]
Dauwerse JG, van Belzen M, van Haeringen A, van Santen G, van de lans C, Rahikkala E, Garavelli L, Breuning M, Hennekam R, Peters D, Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. EUR J HUM GENET 2016;24 (11):1639-1643 [PubMed]
de Maria B, Mazzanti L, Roche N, Hennekam RC, Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. AM J MED GENET A 2016;170A (8):1989-2001 [PubMed]
de Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RCM, Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ORPHANET J RARE DIS 2016;11 (1):37 [PubMed]
Fergelot P, van Belzen M, van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BBA, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJM, Bartsch O, Larizza L, Lacombe D, Hennekam RC, Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. AM J MED GENET A 2016;170A (12):3069-3082 [PubMed]
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg ASP, Fliers E, Schwabe JWR, Hennekam RC, A specific mutation in TBL1XR1 causes Pierpont syndrome. J MED GENET 2016;53 (5):330-337 [PubMed]
Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker ELT, Alders M, Santen GWE, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JWR, Boelen A, Fliers E, van Trotsenburg ASP, Mutations in TBL1X Are Associated With Central Hypothyroidism. J CLIN ENDOCR METAB 2016;101 (12):4564-4573 [PubMed]
Henneman P, Petrus NCM, Venema A, van Sinderen F, van der Lip K, Hennekam RC, Mannens M, Sprikkelman AB, Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?. CLIN TRANSL ALLERGY 2016;6:7 [PubMed]
Hopman SMJ, Merks JHM, Suttie M, Hennekam RCM, Hammond P, 3D morphometry aids facial analysis of individuals with a childhood cancer. AM J MED GENET A 2016;170A (11):2905-2915 [PubMed]
Kranendonk EJ, Ploem MC, Hennekam RCM, Regulating biobanking with children's tissue: a legal analysis and the experts' view. EUR J HUM GENET 2016;24 (1):30-36 [PubMed]
Maas SM, Vansenne F, Kadouch DJM, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JHM, Maher ER, Hennekam RC, Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. AM J MED GENET A 2016;170A (9):2248-2260 [PubMed]
Menke LA, van Belzen MJ, Alders M, Cristofoli F, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJV, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJM, Pfundt R, van Ravenswaaij-Arts CMA, Tartaglia M, Hennekam RCM, CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. AM J MED GENET A 2016;170A (10):2681-2693 [PubMed]
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Esch HV, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB, PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI INSIGHT 2016;1 (9):e87623 [PubMed]
Mitchell C, Ploem MC, Hennekam RCM, Kaye J, A Duty To Warn Relatives in Clinical Genetics: Arguably 'Fair just and reasonable' in English Law?. TOTTELS J PROF NEGLIG 2016;32 (2):120-136 [PubMed]
Opitz JM, Biesecker LG, Hennekam RC, GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016. AM J MED GENET A 2016;170 (10):2501-2502 [PubMed]
Petrus NCM, Henneman P, Venema A, Mul A, van Sinderen F, Haagmans M, Mook O, Hennekam RC, Sprikkelman AB, Mannens M, Cow's milk allergy in Dutch children: an epigenetic pilot survey. CLIN TRANSL ALLERGY 2016;6:16 [PubMed]
Putoux A, Alqahtani A, Pinson L, Paulussen ADC, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P, Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. CLIN GENET 2016;90 (6):550-555 [PubMed]
Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, de Sandre-Giovannoli A, López-Otín C, Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. J MED GENET 2016;53 (11):776-785 [PubMed]
Stalman SE. Start small, think big: Growth monitoring, genetic analysis, treatment and quality of life in children with growth disorders. S.l.: s.n.; 2016. 217p. ISBN 978 94 6169 962 6 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Hennekam RCM; copromotor(s): Plötz FB, Kamp GA)
Stalman SE, Hellinga I, Wit JM, Hennekam RCM, Kamp GA, Plötz FB, Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup. J PEDIATR ENDOCR MET 2016;29 (4):465-473 [PubMed]
van Kuilenburg ABP, Meijer J, Tanck MWT, Dobritzsch D, Zoetekouw L, Dekkers LL, Roelofsen J, Meinsma R, Wymenga M, Kulik W, Büchel B, Hennekam RCM, Largiadèr CR, Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. BBA-MOL BASIS DIS 2016;1862 (4):754-762 [PubMed]
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RCM, Sutherland-Smith AJ, Strom TM, Wilkie AOM, Brown MA, Duncan EL, Markie DM, Robertson SP, Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. AM J HUM GENET 2016;99 (2):392-406 [PubMed]
Baas M, Huisman S, van Heukelingen J, Koekkoek G, Laan HW, Hennekam RC, Building treasures for rare disorders. EUR J MED GENET 2015;58 (1):11-13 [PubMed]
Basart H, Kruisinga FH, Breugem CC, Don Griot JPW, Hennekam RC, van der Horst CMAM, Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium. J CRANIO MAXILL SURG 2015;43 (1):92-96 [PubMed]
Basart H, Paes EC, Maas SM, van den Boogaard MJH, van Hagen JM, Breugem CC, Cobben JM, Don Griot JPW, Lachmeijer AMA, Lichtenbelt KD, van Nunen DPF, van der Horst CM, Hennekam RC, Etiology and pathogenesis of robin sequence in a large Dutch cohort. AM J MED GENET A 2015;167 (9):1983-1992 [PubMed]
Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CMAM, Wade EM, Robertson SP, Hennekam RC, Frontometaphyseal dysplasia and keloid formation without FLNA mutations. AM J MED GENET A 2015;167 (6):1215-1222 [PubMed]
Bellini C, Donarini G, Paladini D, Calevo MG, Bellini T, Ramenghi LA, Hennekam RC, Etiology of non-immune hydrops fetalis: An update. AM J MED GENET A 2015;167 (5):1082-1088 [PubMed]
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli MLG, Haldeman-Englert C, Hennekam RCM, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJM, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ [Contributors: Bamshad MJ, Shendure J, Nickerson DA, Abecasis GR, Anderson P, Blue EM, Annable M, Browning BL, Buckingham KJ, Chen C, Chin J, Chong JX, Cooper GM, Davis CP, Frazar C, Harrell TM, He Z, Jain P, Jarvik GP, Jimenez G, Johanson E, Jun G, Kircher M, Kolar T, Krauter SA, Krumm N, Leal SM, Luksic D, Marvin CT, McMillin MJ, McGee S, O'Reilly P, Paeper B, Patterson K, Perez M, Phillips SW, Pijoan J, Poel C, Reinier F, Robertson PD, Santos-Cortez R, Shaffer T, Shephard C, Shively KM, Siegel DL, Smith JD, Staples JC, Tabor HK, Tackett M, Underwood JG, Wegener M, Wang G, Wheeler MM, Yi Q]] , De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay. AM J HUM GENET 2015;96 (3):462-473 [PubMed]
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RCM, Kaiser FJ, Fitzpatrick DR, Pié J, De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. HUM MUTAT 2015;36 (4):454-462 [PubMed]
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TEJ, Jongejan A, Verbeek DS , Nürnberg P, Denome S, Hennekam RCM, Lipscombe D, Baas F, Tijssen MAJ, CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. HUM MOL GENET 2015;24 (4):987-993 [PubMed]
Groen JL, Ritz K, Jalalzadeh H, van der Salm SMA, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MAJ, RELN rare variants in myoclonus-dystonia. MOVEMENT DISORD 2015;30 (3):415-419 [PubMed]
Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC, Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3. AM J MED GENET A 2015;167AA (11):2508-2515 [PubMed]
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R, Rahman N [Contributors: Ahmed M, Anderson K, Archer H, Armstrong R, Baralle D, Barnicoat A, Barrow M, Barwell J, Beales P, Becker K, Berg J, Bernhard B, Bhal S, Birch J, Bitner M, Blair E, Blyth M, Bradley L, Brady A, Brice G, Brueton L, Burke A, Burn J, Campbell J, Canham N, Castle B, Chandler K, Chandrasena R, Chu C, Cilliers D, Clarke A, Clayton-Smith J, Clowes V, Cole T, Colley A, Collins A, Connell F, Cook J, Cox H, Crow Y, Dabir T, Dalton A, Davidson R, Davies S, Day R, Dearnaley D, Dennis N, Deshpande C, Desouza B, Devlin L, Differ AM, Dinwiddie R, Dixit A, Dobbie A, Donaldson A, Donnai D, Eastwood D, Ellis I, Elmslie F, Evans R, Firth H, Fisher R, Fitzpatrick D, Flanagan A, Flinter F, Foley P, Foulds N, Fryer A, Gallagher A, Garcia S, Gardiner C, Garrett C, Gerrard M, Gibbons R, Goudie D, Graham C, Hale J, Harper J, Harrison R, Hughes H, Henderson A, Henman P, Hennekam R, Hobson E, Hodgson S, Holder M, Holder S, Homfray T, Huma Z, Hurst J, Irving M, Izatt L, Jenkins L, Jessen C, Johnson D, Jones E, Jones L, Josifova D, Joss S, Kanabar NN, Kerr B, Kingston H, Kingston J, Kini U, Kinning E, Kumar A, Kumar D, Lachlan K, Lam W, Lees M, Levitt G, Lewis I, Livesey A, Longman C, Lucassen A, Lunt P, MacDonnell J, Magee A, Maher E, Male A, Mansour S, McConnell V, McEntagart M, McGowan R, McKee S, McKeown C, Meany C, Mehta S, Metcalfe K, Mohammed S, Monaghan G, Montgomery T, Morgan A, Morland B, Morrison P, Morton J, Mudgal R, Munaza A, Murday V, Nemeth A, Newbury-Ecob R, Oley C, Owen C, Park SM, Parker M, Patel C, Patton M, Payne S, Pilz D, Pinkney M, Pocha M, Pottinger C, Prescott K, Price S, Pritchard-Jones K, Proctor A, Quarrell O, Rankin J, Raymond L, Rea G, Reid E, Rees H, Robards M, Roposch A, Rosser E, Rourke D, Ruddy D, Saggar A, Sampson J, Sandford R, Sarkar A, Scott R, Scurr I, Semple R, Sharif S, Shaw A, Shaw-Smith C, Shears D, Shelagh J, Smith G, Smithson S, Splitt M, Stevens M, Stewart A, Stewart F, Stewart H, Stopps K, Suri M, Sweeney E, Tanateles G, Taylor A, Taylor C, Temple K, Thomas E, Tischowitz M, Tolmie J, Tomkins S, Turnpenny P, van-Haelst M, Vasudevan P, Wakeling E, Walker L, Williams D, Wilson L, Winter R, Woods G, Wright M, Addor MC, Akgul M, Amor D, Anderson R, Andries S, Ashton-Prolla P, Bahceci M, Baujat G, Baynam G, Beckh-Arnold E, Ben-Yehuda A, Bhat M, Bird L, Bliek J, Bottani A, Breatnach F, Buehler B, Chang E, Christenden C, Clericuzio C, Cordeiro I, Culic V, Cushing T, Danda S, de Roy M, de Soberanis V, Dieckmann A, Dominguez J, Dorkins H, Doz M, Dupont J, Edwards M, Crocker E, Faravelli F, Fiskerstrand T, Foulkes W, Franklin J, Fryssira H, Gardner M, Gener B, Gillerot Y, Goel H, Gowrishankar K, Green A, Gregersen N, Hamilton M, Horovitz D, Hwu WL, Irvine A, Jacquemont ML, Jagadeesh S, Jorgensen A, Kannu P, Keppler-Noreuil K, Krause A, Krishnamurthy V, Lapunzina P, Leonard N, Liebelt J, Lopponen T, Lozano NN, Lynch SA, Lyonnet S, Maitz S, McDevitt T, McGillivray G, Medeira A, Meiner V, Milstein K, Nampoothiri S, Nathanson K, Neas K, Neri G, Nur Semerci C, Ockeloen C, Ozono K, Panarello C, Piard J, Plecko B, Puthi V, Raith W, Read L, Reardon W, Rittinger O, Rothschild A, Saleh N, Saletti V, Santos H, Searle C, Selicorni A, Simon M, Stuurman K, Swain A, Szakszon K, Teixeira M, Thompson E, Thonney F, Turkmen S, Turner A, van Haelst M, van Maldergem L, Verellen C, Verma IC, Vigneron J, Wainwright L, Weaver D, Wheeler P, White K, Yachelevich N, Yeung A, Zankl A]] , Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. HUM MOL GENET 2015;24 (17):4775-4779 [PubMed]
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJM, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JBGM, Mannens MM, Hennekam RC, Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. EUR J MED GENET 2015;58 (5):279-292 [PubMed]
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, Fitzpatrick DR, Pié J, Clinical utility gene card for: Cornelia de Lange syndrome. EUR J HUM GENET 2015;23 (10):10.1038/ejhg.2014.270 [PubMed]
Rutsch F, Macdougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC, A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome. AM J HUM GENET 2015;96 (2):275-282 [PubMed]
Stalman SE, Hellinga I, van Dommelen P, Hennekam RCM, Saari A, Sankilampi U, Dunkel L, Wit JM, Kamp GA, Plötz FB, Application of the Dutch, Finnish and British Screening Guidelines in a Cohort of Children with Growth Failure. HORM RES PAEDIAT 2015;84 (6):376-382 [PubMed]
Stalman SE, Kamp GA, Hendriks YMC, Hennekam RCM, Rotteveel J, Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14. CLIN ENDOCRINOL 2015;83 (5):671-676 [PubMed]
Terhal PA, Nievelstein RJAJ, Verver EJJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RCM, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EMHF, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR, A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. AM J MED GENET A 2015;167 (3):461-475 [PubMed]
van Kuilenburg ABP, Etienne-Grimaldi MC, Mahamat A, Meijer J, Laurent-Puig P, Olschwang S, Gaub MP, Hennekam RCM, Benchimol D, Houry S, Letoublon C, Gilly FN, Pezet D, Andre T, Faucheron JL, Abderrahim-Ferkoune A, Vijzelaar R, Pradere B, Milano G, Frequent intragenic rearrangements of DPYD in colorectal tumours. PHARMACOGENOMICS J 2015;15 (3):211-218 [PubMed]
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJJ, van den Hout MCGN, van Hove S, Johansson LF, Jongbloed JDH, Kamps R, Kockx CEM, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C , Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van Ijcken WFJ, den Dunnen J, Veltman JA, Hennekam R, Cuppen E, Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. EUR J HUM GENET 2015;23 (9):1142-1150 [PubMed]
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJJ, van den Hout MCGN, van Hove S, Johansson LF, Jongbloed JDH, Kamps R, Kockx CEM, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C , Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van Ijcken WFJ, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E, Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015). EUR J HUM GENET 2015;23 (9):1270 [PubMed]
Abarca H, Mellgren AEC, Trubnykova M, Haugen OH, Høvding G, Tveit KS, Houge G, Bredrup C, Hennekam RC, Ocular pterygium--digital keloid dysplasia. AM J MED GENET A 2014;164AA (11):2901-2907 [PubMed]
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC, Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. HUM GENET 2014;133 (9):1161-1167 [PubMed]
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RCM, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, Fitzpatrick DR, Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J MED GENET 2014;51 (10):659-668 [PubMed]
Beets L, Rodríguez-Fonseca C, Hennekam RC, Growth charts for individuals with Rubinstein-Taybi syndrome. AM J MED GENET A 2014;164AA (9):2300-2309 [PubMed]
Bellini C, Hennekam RCM, Clinical Disorders of Primary Malfunctioning of the Lymphatic System. ADV ANAT EMBRYOL CEL 2014;214:187-204 [PubMed]
Bleeker FE, Hopman SM, Hennekam RC, Co-occurrence in body site of malformations and cancer. EUR J MED GENET 2014;57 (8):480-485 [PubMed]
Bleeker FE, Hopman SMJ, Merks JHM, Aalfs CM, Hennekam RCM, Brain tumors and syndromes in children. NEUROPEDIATRICS 2014;45 (3):137-161 [PubMed]
Blom RM, Hennekam RCM, Amputatiewens bij 'body integrity identity disorder'. NED TIJDSCHR GENEESKD 2014;158:A7146 [PubMed]
Campeau PM, Hennekam RC [Contributors: Aftimos S, Banka S, Begleiter ML, Bilo L, Blair E, Burrage LC, Liu DS, de Bie I, Félix TM, Giltay JC, Gibbs RA, Giuliano F, Hadzsiev K, Hori M, Kariminejad A, Kayserili H, Kerr B, Lee BH, Lu JT, Male A, Meenakshi G, Mey A, Murray ML, Nair LDV, Nampoothiri S, Newman WG, Peluso S, Peters H, Powell R, Repetto GM, Rump P, Santos-Simarro F, Stewart F, van Bever Y, van den Ende J, Wieczorek D, Wisniewska M, Sisodiya SM, Campeau PM, Hennekam RC]] , DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome. AM J MED GENET C 2014;166 (3):327-332 [PubMed]
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LDV, Begleiter ML, de Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM, The genetic basis of DOORS syndrome: an exome-sequencing study. LANCET NEUROL 2014;13 (1):44-58 [PubMed]
Chen BC, Mohd Rawi R, Meinsma R, Meijer J, Hennekam RCM, van Kuilenburg ABP, Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings. MOL SYNDROMOL 2014;5 (6):299-303 [PubMed]
Cobben JM, Weiss MM, van Dijk FS, de Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG, A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. EUR J MED GENET 2014;57 (11-12):636-638 [PubMed]
Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC, Focal dermal hypoplasia without focal dermal hypoplasia. AM J MED GENET A 2014;164A (3):778-781 [PubMed]
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TEJ, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC, Mutations in ZBTB20 cause Primrose syndrome. NAT GENET 2014;46 (8):815-817 [PubMed]
Graham JM Jr, Hennekam RC, Genetics of common malformations. EUR J MED GENET 2014;57 (8):353-354 [PubMed]
Hammond P, McKee S, Suttie M, Allanson J, Cobben JM, Maas SM, Quarrell O, Smith ACM, Lewis S, Tassabehji M, Sisodiya S, Mattina T, Hennekam R, Opposite effects on facial morphology due to gene dosage sensitivity. HUM GENET 2014;133 (9):1117-1125 [PubMed]
Hopman SMJ. Cancer predisposition in children: genetics, phenotypes & screening. s.l.: s.n.; 2014. 244p. ISBN 9789090282015 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Caron HN, Hennekam RCM; copromotor(s): Merks JHM)
Hopman SMJ, Merks JHM, Suttie M, Hennekam RCM, Hammond P, Face shape differs in phylogenetically related populations. EUR J HUM GENET 2014;22 (11):1268-1271 [PubMed]
Houten SM, Denis S, te Brinke H, Jongejan A, van Kampen AHC, Bradley EJ, Baas F, Hennekam RCM, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJA, Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. HUM MOL GENET 2014;23 (18):5009-5016 [PubMed]
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Mohammed S, Moran E, Mortier GR, Moser JAS, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA, Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. HUM MOL GENET 2014;23 (11):2888-2900 [PubMed]
Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC, Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J INVEST DERMATOL 2014;134 (9):2331-2338 [PubMed]
Kosho T, Okamoto N [Contributors: Imai Y, Ohashi H, van Eerde AM, Chrzanowska K, Clayton-Smith J, Kingston H, Mari F, Aggarwal S, Mowat D, Niikawa N, Hiraki Y, Matsumoto N, Fukushima Y, Josifova D, Dean J, Smigiel R, Sakazume S, Silengo M, Tinschert S, Kawame H, Yano S, Yamagata T, van Bon BWM, Vulto-van Silfhout AT, Ben-Omran T, Bigoni S, Alanay Y, Miyake N, Tsurusaki Y, Matsumoto N, Santen GWE, Wieczorek D, Wollnik B, Hennekam RCM]] , Genotype-Phenotype Correlation of Coffin-Siris Syndrome Caused by Mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. AM J MED GENET C 2014;166 (3):262-275 [PubMed]
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V, Myhre and LAPS syndromes: clinical and molecular review of 32 patients. EUR J HUM GENET 2014;22 (11):1272-1277 [PubMed]
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V, Myhre and LAPS syndromes: clinical and molecular review of 32 patients (vol 22, pg 1272, 2014). EUR J HUM GENET 2014;22 (11):1340
Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, de Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A, Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country. AM J MED GENET A 2014;164AA (9):2317-2323 [PubMed]
Ploem C , Dondorp W, de Wert G, Hennekam R, Invoering van 'next-generation sequencing' in de zorg: wat betekent dat voor artsen en patiënten?. NED TIJDSCHR GENEESKD 2014;158 (4):A6757 [PubMed]
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RCM, Zenker M, Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. HUM MUTAT 2014;35 (9):1092-1100 [PubMed]
Sousa SB, Hennekam RC [Contributors: Abdul-Rahman O, Alders M, Azzarello-Burri S, Bottani A, Bowdin S, Castori M, Cormier-Daire V, Deardorff M, del Campo Casanelles M, Devriendt K, Fauth C, Filges I, Fryer A, Garavelli L, Gillessen-Kaesback G, Hall B, Hirofumi O, Holder S, Hoyer J, Jenkins L, Klapeki J, Krajewska-Walasek M, Kosho T, Kuechler A, Macdermot K, Magee A, Mari F, Mathieu-Dramard M, Napier M, Pérez-Jurado LA, Picard FM, Morin G, Murday V, Pilch J, Ronan A, Rosser E, Santen GWE, Scott R, Selicorni A, Shannon N, Santos-Simarro F, Stewart H, van den Boogaard MJ, Vilain C, Vermeesch J, Vogels A, Wakeling E, Wieczorek D, Yesil G, Zuffardi O, Zweier C, Sousa SB, Hennekam RC]] , Phenotype and Genotype in Nicolaides-Baraitser Syndrome. AM J MED GENET C 2014;166 (3):302-314 [PubMed]
Sousa SB, Ramos F, Garcia P, Pais RP, Paiva C, Beales PL, Moore GE, Saraiva JM, Hennekam RCM, Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. AM J MED GENET A 2014;164AA (1):10-14 [PubMed]
van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJM, Hennekam RCM, Keloids in Rubinstein-Taybi syndrome: a clinical study. BRIT J DERMATOL 2014;171 (3):615-621 [PubMed]
Abdelmalik N, van Haelst M, Mancini G, Schrander-Stumpel C, Marcus-Soekarman D, Hennekam R, Cobben JM, Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders. AM J MED GENET A 2013;161A (2):254-260 [PubMed]
Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC, Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. MOL SYNDROMOL 2013;4 (3):107-113 [PubMed]
Barge-Schaapveld DQCM, Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RCM, Intellectual disability and hemizygous GPD2 mutation. AM J MED GENET A 2013;161A (5):1044-1050 [PubMed]
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JEH, Hove HD, Heimdal KR, Rustad CF, Hennekam RCM, Hofstra RMW, Hoefsloot LH, van Ravenswaaij-Arts CMA, Kapusta L, The cardiac phenotype in patients with a CHD7 mutation. CIRC-CARDIOVASC GENE 2013;6 (3):248-254 [PubMed]
Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, Macdougall M, Rutsch F, Hennekam RCM, Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. AM J MED GENET A 2013;161A (2):360-370 [PubMed]
Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC, Elements of morphology: general terms for congenital anomalies. AM J MED GENET A 2013;161AA (11):2726-2733 [PubMed]
Hennekam RCM, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E, Elements of morphology: standard terminology for the external genitalia. AM J MED GENET A 2013;161AA (6):1238-1263 [PubMed]
Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM, ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. AM J HUM GENET 2013;92 (5):681-695 [PubMed]
Holman SK, Morgan T, Baujat G, Cormier-Daire V, Cho TJ, Lees M, Samanich J, Tapon D, Hove HD, Hing A, Hennekam R, Robertson SP, Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. CLIN GENET 2013;83 (3):251-256 [PubMed]
Hopman S, Merks J, Eussen H, Douben H, Snijder S, Hennekam R, de Klein A, Caron H, Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes. EUR J CANCER 2013;49 (9):2170-2178 [PubMed]
Hopman SMJ, Merks JHM, de Borgie CAJM, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam RCM, The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. EUR J CANCER 2013;49 (15):3247-3254 [PubMed]
Huisman SA, Redeker EJW, Maas SM, Mannens MM, Hennekam RCM, High rate of mosaicism in individuals with Cornelia de Lange syndrome. J MED GENET 2013;50 (5):339-344 [PubMed]
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TME, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JAMJL, Endert E, Hennekam RC, Lombardi MP, Mannens MMAM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg ASP, The IGSF1 deficiency syndrome: characteristics of male and female patients. J CLIN ENDOCR METAB 2013;98 (12):4942-4952 [PubMed]
Kamatani N, Jinnah HA, Hennekam RCM, van Kuilenburg ABP. Purine and pyrimidine metabolism in: Rimoin D, Pyeritz R, Korf B, editors. Emery & Rimoin's Principles and Practice of Medical Genetics, 6th edition. S.l.: Elsevier Science Publishing; 2013., p. 1-38
Kariminejad A, Stollfuß B, Li Y, Bögershausen N, Boss K, Hennekam RCM, Wollnik B, Severe Cenani-Lenz syndrome caused by loss of LRP4 function. AM J MED GENET A 2013;161AA (6):1475-1479 [PubMed]
Oduber CEU, Young-Afat DA, van der Wal AC, van Steensel MAM, Hennekam RCM, van der Horst CMAM, The persistent embryonic vein in Klippel-Trenaunay syndrome. VASC MED 2013;18 (4):185-191 [PubMed]
Peeters B. Gastrointestinal motility disorders in children; etiology and associated behaviors. s.l.: s.n.; 2013. 221p. ISBN 9789090272450 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Benninga MA, Hennekam RCM; copromotor(s): )
Santen GWE, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BWM, van Minderhout IJHM, Snowdowne R, van der Lans CAC, Boogaard M, Linssen MML, Vijfhuizen L, van der Wielen MJR, Vollebregt MJE, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BBA, Hennekam RCM, van Belzen MJ [Contributors: Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GMS, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury-Ecob R, Nikkel SM, Parker MJ, Pérez-Jurado LA, Robertson SP, Rooryck C, Shears D, Silengo M, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde AM, Vincent-Delorme C, Wilson LC, Yesil G]] , Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. HUM MUTAT 2013;34 (11):1519-1528 [PubMed]
Schmidts M, Arts HH, Bongers EMHF, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JBL, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RCM, Kayserili H, Scambler PJ, Beales PL, Knoers NV, Roepman R, Mitchison HM [Contributors: Al-Turki S, Anderson C, Antony D, Barroso I, Beales P, Bentham J, Bhattacharya S, Carss K, Chatterjee K, Cirak S, Cosgrove C, Danecek P, Durbin R, Fitzpatrick D, Floyd J, Foley RA, Franklin C, Futema M, Humphries SE, Hurles M, Joyce C, Mccarthy S, Mitchison HM, Muddyman D, Muntoni F, O'Rahilly S, Onoufriadis A, Payne F, Plagnol V, Raymond L, Savage DB, Scambler PJ, Schmidts M, Schoenmakers N, Semple R, Serra E, Stalker J, van Kogelenberg M, Vijayarangakannan P, Walter K, Whittall R, Williamson K]] , Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J MED GENET 2013;50 (5):309-323 [PubMed]
Schneider A, Maas SM, Hennekam RCM, Hanauer A, Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. EUR J MED GENET 2013;56 (3):150-152 [PubMed]
Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC, Progressive extreme heterotopic calcification. AM J MED GENET A 2013;161AA (7):1706-1713 [PubMed]
Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC, Intellectual disability, unusual facial morphology and hand anomalies in sibs. AM J MED GENET A 2013;161A (10):2401-2406 [PubMed]
Steinbusch CVM, van Roozendaal KEP, Tserpelis D, Smeets EEJ, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RCM, Blok MJ, Schrander-Stumpel CTRM, Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. CLIN GENET 2013;83 (1):73-77 [PubMed]
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, van Maldergem L, Temple IK, Cole T, Seal S, Rahman N [Contributors: Addor MC, Akgul M, Amor D, Anderson K, Anderson R, Andries S, Archer H, Armstrong R, Ashton-Prolla P, Bahceci M, Baralle D, Barnicoat A, Barrow M, Baujat G, Baynam G, Beales P, Becker K, Beckh-Arnold E, Ben-Yehuda A, Berg J, Bernhard B, Bhal S, Bhat M, Birch J, Bird L, Bitner M, Blair E, Bliek J, Blyth M, Bottani A, Bradley L, Brady A, Breatnach F, Brueton L, Buehler B, Burke A, Burn J, Campbell J, Canham N, Castle B, Chandler K, Chandrasena R, Chang E, Chu C, Christenden C, Cilliers D, Clarke A, Clayton-Smith J, Clericuzio C, Clowes V, Cole T, Colley A, Collins A, Connell F, Cook J, Cordeiro HI, Crocker CE, Crow Y, Culic V, Cushing T, Dabir T, Dalton A, Danda S, Davidson R, Davies S, Day R, de Roy M, de Soberanis V, Dearnaley D, Dennis N, Deshpande C, Desouza B, Devlin L, Differ AM, Dinwiddie R, Dixit A, Dobbie A, Dominguez J, Donaldson A, Donnai D, Doz M, Dupont J, Eastwood D, Edwards M, Ellis I, Elmslie F, Evans R, Faravelli F, Firth H, Fisher R, Fiskerstrand T, Fitzpatrick D, Flanagan A, Flinter F, Foley P, Foulds N, Foulkes W, Franklin J, Fryer A, Gallagher A, Garcia S, Gardiner C, Gardner M, Garrett C, Gener B, Gerrard M, Gibbons R, Gillerot Y, Goel H, Goudie D, Gowrishankar K, Graham C, Green A, Gregersen N, Hale J, Harper J, Harrison R, Hughes H, Henderson A, Henman P, Hennekam R, Hobson E, Holder M, Holder S, Homfray T, Horovitz D, Huma Z, Hurst J, Hwu WL, Irvine A, Irving M, Izatt L, Jacquemont ML, Jagadeesh S, Jenkins L, Jessen C, Johnson D, Jones E, Jones L, Josifova D, Joss S, Kanabar NN, Kannu P, Keppler-Noreuil K, Kerr B, Kingston H, Kingston J, Kini U, Kinning E, Krause A, Kumar A, Kumar D, Lachlan K, Lam W, Lapunzina P, Lees M, Leonard N, Lewis I, Liebelt J, Livesey A, Longman C, Lopponen T, Lozano NN, Lucassen A, Lunt P, Lynch SA, Lyonnet S, MacDonnell J, Magee A, Maher E, Maitz S, Male A, Mansour S, McConnell V, McDevitt T, McEntagart M, McGillivray G, McGowan R, McKee S, McKeown C, Meany C, Medeira A, Mehta S, Meiner V, Metcalfe K, Milstein K, Mohammed S, Monaghan G, Montgomery T, Morgan A, Morland B, Morrison P, Morton J, Mudgal R, Munaza A, Murday V, Nampoothiri S, Nathanson K, Neas K, Nemeth A, Neri G, Newbury-Ecob R, Ockeloen C, Oley C, Owen C, Ozono K, Panarello C, Park SM, Parker M, Patel C, Patton M, Payne S, Pilz D, Pinkney M, Plecko B, Pocha M, Pottinger C, Prescott K, Price S, Pritchard-Jones K, Proctor A, Quarrell O, Raith W, Rankin J, Raymond L, Rea G, Reardon W, Reid E, Rees H, Rittinger O, Robards M, Roposch A, Rosser E, Rothschild A, Rourke D, Ruddy D, Saggar A, Saleh N, Saletti V, Sampson J, Sandford R, Santos H, Sarkar A, Scott R, Scurr I, Selicorni A, Semple R, Sharif S, Shaw A, Shaw-Smith C, Shears D, Shelagh J, Simon M, Smith G, Smithson S, Splitt M, Stevens M, Stewart A, Stopps K, Stuurman K, Suri M, Swain A, Tanateles G, Taylor A, Taylor C, Teixeira M, Temple K, Thomas E, Thompson E, Thonney F, Tischowitz M, Tolmie J, Tomkins S, Turkmen S, Turner A, Turnpenny P, van-Haelst M, van Maldergem L, Vasudevan P, Verellen C, Verma IC, Vigneron J, Wakeling E, Wainwright L, Walker L, Wheeler P, White K, Williams D, Wilson L, Winter R, Woods G, Wright M, Yachelevich N, Yeung A, Zankl A, Stewart F, Stewart H, Sweeney E]] , Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. AM J MED GENET A 2013;161 (12):2972-2980 [PubMed]
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM [Contributors: Ali Pacha L, Zankl A, Leventer R, Grattan-Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski-Bosnjak V, Petkovic D, Abdel-Salam GMH, Abdel-Aleem A, Marti I, Pinard JM, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier-Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou-Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben-Zeev B, Gershoni-Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon M, Renieri A, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic-Jakubi B, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RCM, Wolf N, Gouider-Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, de Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB]] , Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. EUR J HUM GENET 2013;21 (10):1074-1078 [PubMed]
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H, Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. HUM MUTAT 2013;34 (2):296-300 [PubMed]
Bellini C, Hennekam RCM, Non-immune hydrops fetalis: A short review of etiology and pathophysiology. AM J MED GENET A 2012;158A (3):597-605 [PubMed]
Blom RM, Hennekam RC, Denys D, Body Integrity Identity Disorder. PLOS ONE 2012;7 (4):e34702 [PubMed]
Braunholz D, Hullings M, Gil-Rodriguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ, Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012). EUR J HUM GENET 2012;20 (3):366
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ, Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. EUR J HUM GENET 2012;20 (3):271-276 [PubMed]
Carey JC, Allanson JE, Hennekam RCM, Biesecker LG, Standard Terminology for Phenotypic Variations: The Elements of Morphology Project, Its Current Progress, and Future Directions. HUM MUTAT 2012;33 (5):781-786 [PubMed]
Chinthapalli K, Bartolini E, Novy J, Suttie M, Marini C, Falchi M, Fox Z, Clayton LMS, Sander JW, Guerrini R, Depondt C, Hennekam R, Hammond P, Sisodiya SM, Atypical face shape and genomic structural variants in epilepsy. BRAIN 2012;135 (10):3101-3114 [PubMed]
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MCE, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CTRM, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NVAM, Brunner HG, Jackson AP, Bongers EMHF, Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. EUR J HUM GENET 2012;20 (6):598-606 [PubMed]
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MCE, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CTRM, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NVAM, Brunner HG, Jackson AP, Bongers EMHF, Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder. AM J MED GENET A 2012;158A (11):2733-2742 [PubMed]
de Wijn RS, Oduber CEU, Breugem CC, Alders M, Hennekam RCM, van der Horst CMAM, Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. EUR J MED GENET 2012;55 (3):191-195 [PubMed]
Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, van Laer L, McCallion AS, Loeys BL, Dietz HC, Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. NAT GENET 2012;44 (11):1249-1254 [PubMed]
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RCM, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H, A Phenotype Map for 14q32.3 Terminal Deletions. AM J MED GENET A 2012;158A (4):695-706 [PubMed]
Galizia EC, Palmer R, Waters JJ, Koepp MJ, Hennekam RCM, Sisodiya SM, The idic(15) syndrome: Expanding the phenotype. AM J MED GENET A 2012;158A (6):1505-1508 [PubMed]
Graham JM Jr, Hennekam RCM, Epilepsy and Genetics Preface. EUR J MED GENET 2012;55 (5):279-280 [PubMed]
Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS, The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?. AM J MED GENET A 2012;158A (11):2979-2980 [PubMed]
Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS, The face signature of fibrodysplasia ossificans progressiva. AM J MED GENET A 2012;158A (6):1368-1380 [PubMed]
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NVAM, van Haaften G, Kloosterman W, Hennekam RCM, Cuppen E, Ploos van Amstel HK, X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J MED GENET 2012;49 (8):539-543 [PubMed]
Hennekam RCM, Editorial comment: New diagnostic criteria for Marfan syndrome. AM J MED GENET A 2012;158A (5):980-981 [PubMed]
Hennekam RCM, Untitled. AM J MED GENET A 2012;158A (9):2106
Hennekam RCM, Biesecker LG, Next-Generation Sequencing Demands Next-Generation Phenotyping. HUM MUTAT 2012;33 (5):884-886 [PubMed]
Hopman SMJ, van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RCM, Merks JHM, PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. AM J MED GENET A 2012;158A (7):1719-1723 [PubMed]
Kariminejad A, Hennekam RCM, Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability. AM J MED GENET A 2012;158A (11):2756-2762 [PubMed]
Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E, Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development. J INVEST DERMATOL 2012;132 (8):2026-2032 [PubMed]
Kinsler V, Shaw AC, Merks JH, Hennekam RC, The face in congenital melanocytic nevus syndrome. AM J MED GENET A 2012;158A (5):1014-1019 [PubMed]
Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE, Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J MED GENET 2012;49 (2):110-118 [PubMed]
Novy J, Catarino CB, Chinthapalli K, Smith SM, Clayton-Smith J, Hennekam RCM, Hammond P, Sisodiya SM, Another cause of vaccine encephalopathy: A case of Angelman syndrome. EUR J MED GENET 2012;55 (5):338-341 [PubMed]
Oudesluijs G, Simon MEH, Burggraaf RHJ, Waterham HR, Hennekam RCM, Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. AM J MED GENET A 2012;158A (2):292-297 [PubMed]
Peeters B, Benninga MA, Hennekam RCM, Infantile hypertrophic pyloric stenosis-genetics and syndromes. NAT REV GASTRO HEPAT 2012;9 (11):646-660 [PubMed]
Poretti A, Vitiello G, Hennekam RCM, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TAGM, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E, Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI. ORPHANET J RARE DIS 2012;7 (1):4 [PubMed]
Sun Y, Bak B, Schoenmakers N, van Trotsenburg ASP, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SNM, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TME, Hokken-Koelega ACS, del Blanco DG, Rangasami JJ, Ruivenkamp CAL, Laros JFJ, Kriek M, Kant SG, Bosch CAJ, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GCJ, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ, Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. NAT GENET 2012;44 (12):1375-1381 [PubMed]
Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon MEH, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RCM, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR, Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. AM J MED GENET C 2012;160 (3):205-216 [PubMed]
van Balkom IDC. Phenotypes and epidemiology of rare neurodevelopmental disorders. S.l.: s.n.; 2012. 194p. ISBN 978-90-367-5317-3 Proefschrift Rijksuniversiteit Groningen, Medische Wetenschappen. (Promotor(s): Hoek HW, Hennekam RCM; copromotor(s): )
van Balkom IDC, Vuijk PJ, Franssens M, Hoek HW, Hennekam RCM, Development, cognition, and behaviour in Pitt-Hopkins syndrome. DEV MED CHILD NEUROL 2012;54 (10):925-931 [PubMed]
van Bon BWM, Gilissen C, Grange DK, Hennekam RCM, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BBA, Hoischen A, Cantu Syndrome Is Caused by Mutations in ABCC9. AM J HUM GENET 2012;90 (6):1094-1101 [PubMed]
van Houdt JKJ, Nowakowska BA, Sousa SB, van Schaik BDC, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJH, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AHC, Devriendt K, Hennekam R, Vermeesch JR, Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. NAT GENET 2012;44 (4):445-U261 [PubMed]
van Kuilenburg ABP, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NGGM, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RCM, beta-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients. BBA-MOL BASIS DIS 2012;1822 (7):1096-1108 [PubMed]
Waterham HR, Hennekam RCM, Mutational spectrum of Smith-Lemli-Opitz syndrome. AM J MED GENET C 2012;160 (4):263-284 [PubMed]
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, Macdermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V, Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J MED GENET 2011;48 (6):417-421 [PubMed]
Allanson JE, Hennekam RCM, Moog U, Smeets EE, Rett syndrome: a study of the face. AM J MED GENET A 2011;155A (7):1563-1567 [PubMed]
Barge-Schaapveld DQCM, Maas SM, Polstra A, Knegt LC, Hennekam RCM, The Atypical 16p11.2 Deletion: A Not So Atypical Microdeletion Syndrome?. AM J MED GENET A 2011;155A (5):1066-1072 [PubMed]
Belligni EF, Dokal I, Hennekam RCM, Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?. EUR J MED GENET 2011;54 (3):231-235 [PubMed]
Cardy AH, Sharp L, Torrance N, Hennekam RC, Miedzybrodzka Z, Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? A case-only study and pedigree analysis. PLOS ONE 2011;6 (4):e17895 [PubMed]
Dieriks B, de Vos WH, Moreels M, Ghardi M, Hennekam R, Broers JLV, Baatout S, van Oostveldt P, Multiplexed profiling of secreted proteins for the detection of potential space biomarkers. MOL MED REP 2011;4 (1):17-23 [PubMed]
Hennekam RCM, A newborn with unusual morphology: some practical aspects. SEMIN FETAL NEONAT M 2011;16 (2):109-113 [PubMed]
Hennekam RCM, Care for patients with ultra-rare disorders. EUR J MED GENET 2011;54 (3):220-224 [PubMed]
Kasperavičiūtė D, Catarino CB, Chinthapalli K, Clayton LMS, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RCM, Land JM, Sisodiya SM, Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLOS ONE 2011;6 (8):e23182 [PubMed]
Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC, Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. HUM MUTAT 2011;32 (10):1144-1152 [PubMed]
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MAMM, Smigiel R, Hennekam RC, Mutation update for the PORCN gene. HUM MUTAT 2011;32 (7):723-728 [PubMed]
Meuwissen MEC, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GMS, Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. NEUROLOGY 2011;76 (9):844-846 [PubMed]
Nampoothiri S, Kuthiroly S, Fauth C, Krabichler B, Attie-Bitach T, Hennekam RC, Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. AM J MED GENET A 2011;155A (10):2465-2468 [PubMed]
Oduber CEU, van der Horst CMAM, Sillevis Smitt JH, Smeulders MJC, Mendiratta V, Harper JI, van Steensel MAM, Hennekam RCM, A proposal for classification of entities combining vascular malformations and deregulated growth. EUR J MED GENET 2011;54 (3):262-271 [PubMed]
Ozgen H, Hellemann GS, Stellato RK, Lahuis B, van Daalen E, Staal WG, Rozendal M, Hennekam RC, Beemer FA, van Engeland H, Morphological Features in Children with Autism Spectrum Disorders: A Matched Case-Control Study. J AUTISM DEV DISORD 2011;41 (1):23-31 [PubMed]
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RCM, Lapunzina P, Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. AM J HUM GENET 2011;89 (2):295-301 [PubMed]
Paulussen ADC, Stegmann APA, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EEJGL, Wagemans A, Schrander JJP, van den Boogaard MJH, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RCM, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CTRM, MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome. HUM MUTAT 2011;32 (2):E2018-E2025 [PubMed]
Peeters B, Benninga MA, Hennekam RC, Childhood constipation; an overview of genetic studies and associated syndromes. BEST PRACT RES CL GA 2011;25 (1):73-88 [PubMed]
Peeters B, Hennekam RC, Motility disorders and genetics: the future is bright. J PEDIATR GASTR NUTR 2011;53 (Suppl. 2):S1-S3 [PubMed]
Putoux A, Thomas S, Coene KLM, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MHS, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T, KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. NAT GENET 2011;43 (6):601-606 [PubMed]
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR, Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLOS GENET 2011;7 (7):e1002114 [PubMed]
Rooryck C, Diaz-Font A, Osborn DPS, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL, Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. NAT GENET 2011;43 (3):197-203 [PubMed]
Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC, Co-Occurrence of Severe Goltz-Gorlin Syndrome and Pentalogy of Cantrell - Case Report and Review of the Literature. AM J MED GENET A 2011;155A (5):1102-1105 [PubMed]
Sripathomsawat W, Tanpaiboon P, Heering J, Dötsch V, Hennekam RCM, Kantaputra P, Phenotypic Analysis of Arg227 Mutations of TP63 With Emphasis on Dental Phenotype and Micturition Difficulties in EEC Syndrome. AM J MED GENET A 2011;155A (1):228-232 [PubMed]
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte SDV, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T, Douglas J, Rahman N [Contributors: Amor D, Andries S, Archer H, Armstrong R, Ashton-Prolla P, Baralle D, Barnicoat A, Barrow M, Beales P, Becker K, Beckh-Arnold E, Berg J, Bernhard B, Bhat M, Birch J, Bitner M, Blair E, Bliek J, Blyth M, Brady A, Brice G, Brueton L, Burn J, Canham N, Castle B, Cecconi M, Chandler K, Chandrasena R, Cilliers D, Clarke A, Clayton-Smith J, Clericuzio C, Cole T, Colley A, Collins A, Connell F, Cook J, Crow Y, Dabir T, Dalton A, Danda S, Davies S, Day R, Dennis N, Deshpande C, Desouza B, Devlin L, Differ AM, Dinwiddie R, Dobbie A, Donnai D, Ellis I, Elmslie F, Firth H, Fisher R, Fitzpatrick D, Flinter F, Foley P, Foulds N, Fryer A, Gallagher A, Garcia S, Gardiner C, Gibbons R, Gillerot Y, Goudie D, Gowrishanker K, Graham C, Gregersen N, Harper J, Hughes H, Henderson A, Hennekam R, Hobson E, Holder S, Homfray T, Huma Z, Hurst J, Irving M, Izatt L, Jagadeeth S, Jessen C, Johnson D, Josifova D, Joss S, Kerr B, Liebelt J, Kini U, Krause A, Kumar A, Kumar D, Lam W, Lapunzina P, Lees M, Leonard N, Livesey A, Longman C, Lucassen A, Lunt P, Lynch S, MacDonnell J, Magee A, Maher E, Male A, Mansour S, McConnell V, McEntagart M, McKee S, McKeown C, Mehta S, Metcalfe K, Mohammed S, Monaghan G, Montgomery T, Morgan A, Morrison P, Morton J, Mudgal R, Murday V, Nampoothiri S, Nemeth A, Newbury-Ecob R, Oley C, Owen C, Park SM, Parker M, Patel C, Patton M, Pilz D, Pinkney M, Pocha M, Pottinger C, Prescott K, Price S, Proctor A, Quarrell O, Rankin J, Raymond L, Rea G, Reardon W, Reid E, Robards M, Roposch A, Rosser E, Rourke D, Ruddy D, Saggar A, Sampson J, Sandford R, Sarkar A, Scott R, Semple R, Sharif S, Shaw A, Shaw-Smith C, Shears D, Shelagh J, Smith G, Smithson S, Splitt M, Stevens M, Stewart F, Stewart H, Stopps K, Suri M, Sweeney E, Tanateles G, Taylor C, Temple K, Tischowitz M, Tolmie J, Tomkins S, Turnpenny P, van-Haelst M, van Maldergem L, Vandersteen A, Vasudevan P, Wakeling E, Walker L, Williams D, Wilson L, Woods G, Wright M, Zankl A]] , Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ONCOTARGET 2011;2 (12):1127-1133 [PubMed]
van Balkom IDC, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RCM, Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism. J INTELL DISABIL RES 2011;55 (10):973-987 [PubMed]
van Belzen M, Bartsch O, Lacombe D, Peters DJM, Hennekam RCM, Rubinstein-Taybi syndrome (CREBBP, EP300). EUR J HUM GENET 2011;19 (1):preceeding 118-preceeding 120 [PubMed]
Verbeek S, Eilers PHC, Lawrence K, Hennekam RCM, Versteegh FGA, Growth charts for children with Ellis-van Creveld syndrome. EUR J PEDIATR 2011;170 (2):207-211 [PubMed]
Adalat S, Bockenhauer D, Ledermann SE, Hennekam RC, Woolf AS, Renal malformations associated with mutations of developmental genes: messages from the clinic. PEDIATR NEPHROL 2010;25 (11):2247-2255 [PubMed]
Baple E, Palmer R, Hennekam RCM, A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. MOL SYNDROMOL 2010;1 (1):42-45 [PubMed]
Belligni EF, Hennekam RCM, Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems. EUR J MED GENET 2010;53 (4):192-196 [PubMed]
Belligni EF, Palmer RW, Hennekam RCM, MECP2 Duplication in a Patient With Congenital Central Hypoventilation. AM J MED GENET A 2010;152A (6):1591-1593 [PubMed]
Bellini C, Fulcheri E, Rutigliani M, Calevo MG, Boccardo F, Campisi C, Bonioli E, Bellini T, Hennekam RCM, Immunohistochemistry in Non-Immune Hydrops Fetalis: A Single Center Experience in 79 Fetuses. AM J MED GENET A 2010;152A (5):1189-1196 [PubMed]
Castori M, Cascone P, Valiante M, Laino L, Iannetti G, Hennekam RCM, Grammatico P, Elsahy-Waters Syndrome: Evidence for Autosomal Recessive Inheritance. AM J MED GENET A 2010;152A (11):2810-2815 [PubMed]
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MCE, Hennekam RCM, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S, Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J MED GENET 2010;47 (10):704-709 [PubMed]
de Vos WH, Houben F, Hoebe RA, Hennekam R, van Engelen B, Manders EMM, Ramaekers FCS, Broers JLV, van Oostveldt P, Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins. BBA-GEN SUBJECTS 2010;1800 (4):448-458 [PubMed]
de Wijn RS, Zaal LH, Hennekam RCM, van der Horst CMAM, Familial clustering of giant congenital melanocytic nevi. J PLAST RECONSTR AES 2010;63 (6):906-913 [PubMed]
Hall BD, Hennekam RCM, Response to central flaring of eyebrow by Mohrenschlager et al. AM J MED GENET A 2010;152A (6):1601 [PubMed]
Hennekam RCM. Rubinstein-Taybi syndrome in: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes. Hoboken: Wiley-Liss; 2010., p. 705-716
Hennekam RCM, Krantz ID, Allanson JE, editors, Syndromes of the Head and Neck. S.l.: Oxford University Press; 2010. 1452p.
Hennekam RCM, Schrander-Stumpel CTRM, Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation. CLIN DYSMORPHOL 2010;19 (4):212-214 [PubMed]
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, de Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RCM, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KOJ, Smithson SF, Temple KI, van Aken E, van Bever Y, van den Ende J, van Hagen JM, Zelante L, Zordania R, de Paepe A, Leroy BP, de Buyzere M, Coucke PJ, Mortier GR, Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. EUR J HUM GENET 2010;18 (8):881
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, de Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RCM, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KOJ, Smithson SF, Temple KI, van Aken E, van Bever Y, van den Ende J, van Hagen JM, Zelante L, Zordania R, de Paepe A, Leroy BP, de Buyzere M, Coucke PJ, Mortier GR, Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. EUR J HUM GENET 2010;18 (8):872-880 [PubMed]
Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H, Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. AM J HUM GENET 2010;86 (2):254-261 [PubMed]
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham Jr JM, Hedera P, Hennekam RCM, Hersh JH, Hopkin RJ, Kayserili H, Kidd AMJ, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai ACH, van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GCM, Biesecker LG, Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations. HUM MUTAT 2010;31 (10):1142-1154 [PubMed]
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RCM, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y, Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J HUM GENET 2010;55 (12):801-809 [PubMed]
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B, LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. AM J HUM GENET 2010;86 (5):696-706 [PubMed]
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V, Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. AM J HUM GENET 2010;87 (2):189-198 [PubMed]
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M, Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. HUM MUTAT 2010;31 (9):992-1002 [PubMed]
Monti E, Hennekam RCM, Prenatal and postnatal growth retardation, depressed nasal tip, oligodactyly, and mental retardation. CLIN DYSMORPHOL 2010;19 (1):40-42 [PubMed]
Oduber CEU, Bliek J, van der Horst CMAM, van Steensel MAM, Hennekam RCM, Monozygotic twins discordant for vascular malformations and dysregulated growth. EUR J MED GENET 2010;53 (1):14-18 [PubMed]
Oduber CEU, Khemlani K, Sillevis Smitt JH, Hennekam RCM, van der Horst CMAM, Baseline Quality of Life in patients with Klippel-Trenaunay syndrome. J PLAST RECONSTR AES 2010;63 (4):603-609 [PubMed]
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RCM, Cornelia de Lange syndrome: extending the physical and psychological phenotype. AM J MED GENET A 2010;152A (5):1127-1135 [PubMed]
Shaw AC, van Balkom IDC, Bauer M, Cole TRP, Delrue MA, van Haeringen A, Holmberg E, Knight SJL, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RCM, Phenotype and Natural History in Marshall-Smith Syndrome. AM J MED GENET A 2010;152A (11):2714-2726 [PubMed]
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RCM, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DAT, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M, Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J MED GENET 2010;47 (8):513-524 [PubMed]
Vandersteen AM, Hennekam RC, Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: Confirmation of an entity. EUR J MED GENET 2010;53 (5):314-317 [PubMed]
van Kuilenburg ABP, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJM, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RCM, Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. BBA-MOL BASIS DIS 2010;1802 (7-8):639-648 [PubMed]
van Kuilenburg ABP, Meijer J, Gokcay G, Baykal T, Rubio-Gozalbo ME, Mul ANPM, de Die-Smulders CEM, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RCM, Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD. NUCLEOS NUCLEOT NUCL 2010;29 (4):509-514 [PubMed]
van Kuilenburg ABP, Meijer J, Mul ANPM, Meinsma R, Schmid V, Dobritzsch D, Hennekam RCM, Mannens MMAM, Kiechle M, Etienne-Grimaldi MC, Klümpen HJ, Maring JG, Derleyn VA, Maartense E, Milano G, Vijzelaar R, Gross E, Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. HUM GENET 2010;128 (5):529-538 [PubMed]
van Kuilenburg A, Hennekam RCM. Purine and Pyrimidine metabolism disturbances: worth looking for? in: Tavares de Almeida I, Duran M, editors. EMG Workshop Proceedings 2010. Lissabon: Milupa Metabolics GmbH, 61361, Friedrichsdorf, Germany; 2010. -, p. 11-16
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli MLG, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KOJ, Raas-Rothschild A, Hennekam RCM, Jabs EW, Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J MED GENET 2010;47 (1):30-37 [PubMed]
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW, Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene. AM J HUM GENET 2010;86 (6):949-956 [PubMed]
Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D, HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J AM SOC NEPHROL 2009;20 (5):1123-1131 [PubMed]
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MMAM, Mulder MF, Offerhaus GJA, Prescott TE, Schroor EJ, Verheij JBGM, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC, Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. NAT GENET 2009;41 (12):1272-1274 [PubMed]
Allanson JE, Biesecker LG, Carey JC, Hennekam RCM, Elements of Morphology: Introduction. AM J MED GENET A 2009;149A (1):2-5 [PubMed]
Armour CM, Humphreys P, Hennekam RCM, Boycott KM, Fitzsimmons Syndrome: Spastic Paraplegia, Brachydactyly, and Cognitive Impairment. AM J MED GENET A 2009;149A (10):2254-2257 [PubMed]
Bellini C, Hennekam RCM, Bonioli E, A Diagnostic Flow Chart for Non-immune Hydrops Fetalis. AM J MED GENET A 2009;149A (5):852-853 [PubMed]
Bellini C, Hennekam RCM, Fulcheri E, Rutigliani M, Morcaldi G, Boccardo F, Bonioli E, Etiology of Nonimmune Hydrops Fetalis: A Systematic Review. AM J MED GENET A 2009;149A (5):844-851 [PubMed]
Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PMT, Hennekam RCM, Lindeman R, Schenck A, Roscioli T, Buckley MF, SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. HUM MOL GENET 2009;18 (12):2257-2265 [PubMed]
de Winter CF, van Dijk F, Stolker JJ, Hennekam RCM, Behavioural phenotype in Borjeson-Forssman-Lehmann syndrome. J INTELL DISABIL RES 2009;53 (Part 4):319-328 [PubMed]
Di WL, Hennekam RC, Callard RE, Harper JI, A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. BRIT J DERMATOL 2009;161 (2):404-412 [PubMed]
Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RCM, Buckley MF, Hussain K, Ellard S, Attersley AT, Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP 2009;10 (4):457-458 [PubMed]
Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RCM, Pilz DT, Connective Tissue Involvement in Two Patients With Features of Cranioectodermal Dysplasia. AM J MED GENET A 2009;149A (10):2212-2215 [PubMed]
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, van Buggenhout G, Vogels A, Stewart HH, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR, Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J MED GENET 2009;46 (4):223-232 [PubMed]
Hennekam RCM, Cormier-Daire V, Hall JG, Méhes K, Patton M, Stevenson RE, Elements of Morphology: Standard Terminology for the Nose and Philtrum. AM J MED GENET A 2009;149A (1):61-76 [PubMed]
Houge G, Hennekam RCM, Angioma serpiginosum is not caused by PORCN mutations: Reply to Happle. EUR J HUM GENET 2009;17 (7):882 [PubMed]
Hunter AG, Hennekam RCM, Response to letter from Professor Merlob and Dr. Klinger "Elements of Morphology: Standard Terminology for the Ear-Additional Features". AM J MED GENET A 2009;149A (7):1607 [PubMed]
Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, Harper J, Wilson LC, Hennekam RCM, Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. PEDIATR DIABETES 2009;10 (3):193-197 [PubMed]
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RCM, Donnai D, Mansour S, Cormier-Daire V, Robertson SP, Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. NAT GENET 2009;41 (1):95-100 [PubMed]
Kempers MJE, Ozgen HM, Vulsma T, Merks JH, Zwinderman KH, de Vijlder JJM, Hennekam RCM, Morphological Abnormalities in Children With Thyroidal Congenital Hypothyroidism. AM J MED GENET A 2009;149A (5):943-951 [PubMed]
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, VanAllen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RCM, van den Boogaard MJH, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CTRM, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M, Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J MED GENET 2009;46 (6):389-398 [PubMed]
maas SM , Lombardi PM, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VKA, Writzl K, Hennekam RCM, Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J MED GENET 2009;46 (10):716-720 [PubMed]
Shaw AC, Hennekam RCM, Interpreting humanity's genes. EUR J MED GENET 2009;52 (6):379-380 [PubMed]
Shkalim V, Baris HN, Gal G, Gleiss R, Calderon S, Wessels M, Maat-Kievit A, Menten B, de Baere E, Hennekam RCM, Schirmacher A, Bale S, Shohat M, Willems PJ, Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. AM J MED GENET A 2009;149A (12):2700-2705 [PubMed]
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M, The mutation spectrum in RECQL4 diseases. EUR J HUM GENET 2009;17 (2):151-158 [PubMed]
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, Macdermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RCM, Nicolaides-Baraitser Syndrome: Delineation of the Phenotype. AM J MED GENET A 2009;149A (8):1628-1640 [PubMed]
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GMH, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, de Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, de Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D, Expanding CEP290 mutational spectrum in ciliopathies. AM J MED GENET A 2009;149A (10):2173-2180 [PubMed]
Twigg SRF, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IMJ, Wilkie AOM, Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene. AM J HUM GENET 2009;84 (5):698-705 [PubMed]
van Kuilenburg ABP, Meijer J, Mul ANPM, Hennekam RCM, Hoovers JMN, de Die-Smulders CEM, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME, Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). HUM GENET 2009;125 (5-6):581-590 [PubMed]
Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJM, Dauwerse H, Gillessen-Kaesbach G, Hennekam RCM, Passarge E, Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. AM J MED GENET A 2009;149A (12):2849-2854 [PubMed]
Wulffaert J, van Berckelaer-Onnes I, Kroonenberg P, Scholte E, Bhuiyan Z, Hennekam R, Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. J INTELL DISABIL RES 2009;53 (7):604-619 [PubMed]
Beales PL, Hennekam RCM. Syndromes with obesity in: Beales PL, Sadaf Farooqi I, O'Rahilly S, editors. Genetics of Obesity Syndromes. S.l.: s.n.; 2008., p. 251-278
Beysen D, de Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, van Regemorter N, Wieczorek D, Veitia RA, de Paepe A, de Baere E, Identification of 34 Novel and 56 Known FOXL2 Mutations in Patients With Blepharophimosis Syndrome. HUM MUTAT 2008;29 (11):E205-E219 [PubMed]
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, Vandevoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I, Ophthalmological aspects of Pierson syndrome. AM J OPHTHALMOL 2008;146 (4):602-611 [PubMed]
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MAJ, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RCM, Grillo E, Beemer FA, Stoets LME, Wollnik B, Nürnberg P, Baas F, tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. NAT GENET 2008;40 (9):1113-1118 [PubMed]
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, de Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RCM, Pyeritz RE, Krogmann ON, Gillessen-Kaesbach G, Wakeling EL, Nik-Zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, de Paepe AM, Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families. HUM MUTAT 2008;29 (1):150-158 [PubMed]
Deshpande C, Hennekam RCM, Genetic syndromes and prenatally detected renal anomalies. SEMIN FETAL NEONAT M 2008;13 (3):171-180 [PubMed]
Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RCM, Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. AM J MED GENET A 2008;146A (13):1748-1753 [PubMed]
Gijsbers ACJ, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, de Baere E, Ruivenkamp CAL, Identification of copy number variants associated with BPES-like phenotypes. HUM GENET 2008;124 (5):489-498 [PubMed]
Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RCM, Uzielli MLG, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KOJ, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW, The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. HUM MOL GENET 2008;17 (14):2172-2180 [PubMed]
Hess D, Keusch JJ, Oberstein SAL, Hennekam RCM, Hofsteenge J, Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J BIOL CHEM 2008;283 (12):7354-7360 [PubMed]
Liu G, Inglis J, Cardy A, Shaw D, Sahota S, Hennekam R, Sharp L, Miedzybrodzka Z, Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus. BMC MED GENET 2008;9 (1):50 [PubMed]
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EMHF, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Raber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, de Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJL, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BBA, Vermeesch JR, Barber JCK, Willatt L, Tassabehji M, Eichler EE, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. NEW ENGL J MED 2008;359 (16):1685-U130 [PubMed]
Merks JHM, Ozgen HM, Koster J, Zwinderman AH, Caron HN, Hennekam RCM, Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA-J AM MED ASSOC 2008;299 (1):61-69 [PubMed]
Oduber CEU, van der Horst CMAM, Hennekam RCM, Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. ANN PLAS SURG 2008;60 (2):217-223 [PubMed]
Ozgen HM. Morphological features in children with autism. S.l.: s.n.; 2008. 236p. Proefschrift Universiteit Utrecht, Kinder- en jeugdpsychiatrie UMC Utrecht, onderzoek in AMC-UvA. (Promotor(s): Beemer FA, van Engeland H, Hennekam RCM; copromotor(s): )
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A, Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. SCIENCE 2008;319 (5864):816-819 [PubMed]
Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RCM, Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. AM J MED GENET A 2008;146A (24):3186-3194 [PubMed]
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL, Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. P NATL ACAD SCI USA 2008;105 (18):6714-6719 [PubMed]
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Hennekam RC, Scambler PJ, Molecular study of 33 families with Fraser syndrome new data and mutation review. AM J MED GENET A 2008;146A (17):2252-2257 [PubMed]
Writzl K, Jeruc J, Oldridge M, Peterlin B, Hennekam RCM, Genital anomalies in a patient with Treacher Collins syndrome. AM J MED GENET A 2008;146A (16):2169-2171 [PubMed]
Al Kaissi A, Klaushofer K, Safi H, Ben Chehida F, Ben Ghachem M, Chaabounni M, Hennekam RCM, Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?. AM J MED GENET A 2007;143A (4):349-354 [PubMed]
Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJM, Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J MED GENET 2007;44 (5):327-333 [PubMed]
Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R, Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. AM J MED GENET A 2007;143A (15):1687-1691 [PubMed]
Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MMAM, Hennekam RCM, Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. EUR J HUM GENET 2007;15 (4):505-508 [PubMed]
Blinkenberg EO, Brendehaug A, Sandvik AK, Vatne O, Hennekam RCM, Houge G, Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. EUR J HUM GENET 2007;15 (5):543-547 [PubMed]
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RCM, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, Valente EM, Gleeson JG, CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. AM J HUM GENET 2007;81 (1):104-113 [PubMed]
Dabir T, Sills AM, Hall CM, Bennett C, Wilson LC, Hennekam RCM, Cranio-osteoarthropathy in sibs. CLIN DYSMORPHOL 2007;16 (3):197-201 [PubMed]
Doornbos ME, Maas SM, McDonnell J, Vermeiden JPW, Hennekam RCM, Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. HUM REPROD 2007;22 (9):2476-2480 [PubMed]
Hennekam RCM, What to call a syndrome. AM J MED GENET A 2007;143A (10):1021-1024 [PubMed]
Lees MM, Kangesu L, Hall P, Hennekam RCM, Two siblings with an unusual nasal malformation: Further instances of craniorhiny?. AM J MED GENET A 2007;143A (24):3290-3294 [PubMed]
Meester-Delver A, Beelen A, Hennekam R, Nollet F, Hadders-Algra M, The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities. DEV MED CHILD NEUROL 2007;49 (5):355-360 [PubMed]
Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RCM, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y, Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. AM J MED GENET A 2007;143A (8):799-807 [PubMed]
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nuernberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RCM, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nuernberg P, Reis A, Rauch A, Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. AM J HUM GENET 2007;80 (3):550-560 [PubMed]
Prescott TE, Hennekam RCM, Posterior helical pits. EUR J MED GENET 2007;50 (2):159-161 [PubMed]
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, de Laet C, de Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SGM, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BCJ, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EGH, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JBP, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, van Coster RNA, van der Aa N, Vanderver A, Vles JSH, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MAA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ, Clinical and molecular phenotype of Aicardi-Goutieres syndrome. AM J HUM GENET 2007;81 (4):713-725 [PubMed]
Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJL, de Vries BBA, Zuffardi O, Eichler EE, Characterization of a recurrent 15q24 microdeletion syndrome. HUM MOL GENET 2007;16 (5):567-572 [PubMed]
van Balkom IDC, Hennekam RCM. Autisme gerelateerde symptoomprofielen bij biologische defecten in: Noens I, van IJzendoorn R, editors. Autisme in Orthopedagogisch Perspectief. Den Haag: Boom; 2007., p. 130-140
van Haelst MM, Scambler PJ, Hennekam RCM, Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. AM J MED GENET A 2007;143A (24):3194-3203 [PubMed]
Versteegh FGA, Buma SA, Costin G, de Jong WC, Hennekam RCM, Growth hormone analysis and treatment in Ellis-van Creveld syndrome. AM J MED GENET A 2007;143A (18):2113-2121 [PubMed]
Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RCM, Immunological abnormalities in CHARGE syndrome. EUR J MED GENET 2007;50 (5):338-345 [PubMed]
Writzl K, Hoovers J, Sistermans EA, Hennekam RCM, LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. AM J MED GENET A 2007;143A (21):2612-2615 [PubMed]
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Goehring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RCM, Orrico A, Cohen M, Dreweke A, Reis A, Nuernberg P, Rauch A, Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). AM J HUM GENET 2007;80 (5):994-1001 [PubMed]
Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER, Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. AM J HUM GENET 2006;78 (4):702-707 [PubMed]
Bellini C, Hennekam RCM, Boccardo F, Campisi C, Serra G, Bonioli E, Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia. AM J MED GENET A 2006;140A (7):678-684 [PubMed]
Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MMAM, van Berckelaer-Onnes I, Hennekam RCM, Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J MED GENET 2006;43 (7):568-575 [PubMed]
Bhuiyan ZA, Zilfalil BA, Hennekam RCM, A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings. SINGAP MED J 2006;47 (8):724-727 [PubMed]
Crawford J, Lower KM, Hennekam RCM, van Esch H, Mégarbané A, Lynch SA, Turner G, Gécz J, Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J MED GENET 2006;43 (3):238-243 [PubMed]
Hennekam RCM, Hutchinson-Gilford progeria syndrome: review of the phenotype. AM J MED GENET A 2006;140A (23):2603-2624 [PubMed]
Hennekam RCM, Robert J. Gorlin (1923-2006): teacher, colleague, and friend. AM J MED GENET A 2006;140A (23):2514-2515 [PubMed]
Hennekam RCM, Rubinstein-Taybi syndrome. EUR J HUM GENET 2006;14 (9):981-985 [PubMed]
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, de Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G, Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J MED GENET 2006;43 (5):401-405 [PubMed]
Lesnik Oberstein SAJ, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RCM, Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. AM J HUM GENET 2006;79 (3):562-566 [PubMed]
Mathijssen IB, van Hasselt-van der Velde J, Hennekam RCM, Testicular cancer in a patient with Primrose syndrome. EUR J MED GENET 2006;49 (2):127-133 [PubMed]
Meester-Delver A, Beelen A, Hennekam R, Hadders-Algra M, Nollet F, Predicting additional care in young children with neurodevelopmental disability: a systematic literature review. DEV MED CHILD NEUROL 2006;48 (2):143-150 [PubMed]
Merks JHM, Ozgen HM, Cluitmans TLM, van der Burg-van Rijn JM, Cobben JM, van Leeuwen FE, Hennekam RCM, Normal values for morphological abnormalities in school children. AM J MED GENET A 2006;140A (19):2091-2109 [PubMed]
Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RCM, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y, Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. NAT GENET 2006;38 (3):294-296 [PubMed]
Ozgen HM, Ozgen MH, Reuvers-Lodewijks WE, Hennekam RCM, Mogelijke teratogene invloed van thiamazol. NED TIJDSCHR GENEESKD 2006;150 (2):101-104 [PubMed]
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJL, Eichler EE, Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. NAT GENET 2006;38 (9):1038-1042 [PubMed]
van Haelst MM. Clinical and molecular genetics of Fraser syndrome. S.l.: s.n.; 2006. 188p. Proefschrift University College London, Dept. of clinical & molecular genetics. (Promotor(s): Hennekam RCM, Scambler PJ; copromotor(s): )
Verstraeten VLRM, Broers JLV, van Steensel MAM, Zinn-Justin S, Ramaekers FCS, Steijlen PM, Kamps M, Kuijpers HJH, Merckx D, Smeets HJM, Hennekam RCM, Marcelis CLM, van den Wijngaard A, Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. HUM MOL GENET 2006;15 (16):2509-2522 [PubMed]
Weisfelt M, Poll-The BT, Hennekam RCM, Severe neurological complications in skeletal dysplasias: two case reports. EUR J PAEDIATR NEURO 2006;10 (5-6):241-243 [PubMed]
Adam MP, Hennekam RCM, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH, Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. AM J MED GENET A 2005;137A (2):117-124 [PubMed]
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE, Further delineation of Kabuki syndrome in 48 well-defined new individuals. AM J MED GENET A 2005;132A (3):265-272 [PubMed]
Baars MJH, Scherpbier AJJA, Schuwirth LW, Henneman L, Beemer FA, Cobben JM, Hennekam RCM, Verweij MMJJ, Cornel MC, ten Kate LP, Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. GENET MED 2005;7 (5):295-301 [PubMed]
Bellini C, Boccardo F, Taddei G, Mazzella M, Arioni C, Villa G, Hennekam RC, Serra G, Campisi C, Diagnostic protocol for lymphoscintigraphy in newborns. LYMPHOLOGY 2005;38 (1):9-15 [PubMed]
Bonioli E, Hennekam RC, Spena G, Morcaldi G, Di Stefano A, Serra G, Bellini C, Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. AM J MED GENET A 2005;132A (2):202-205 [PubMed]
Breugem CC, Hennekam RCM, van Gemert MJC, van der Horst CMAM, Are capillary malformations neurovenular or purely neural?. PLAST RECONSTR SURG 2005;115 (2):578-587 [PubMed]
Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith ACM, Stevens AF, Temple IK, Hennekam R, Tassabehji M, Discriminating power of localized three-dimensional facial morphology. AM J HUM GENET 2005;77 (6):999-1010 [PubMed]
Hennekam RCM, Congenital brain anomalies in distal cholesterol biosynthesis defects. J INHERIT METAB DIS 2005;28 (3):385-392 [PubMed]
Hennekam RCM, Severe infantile Marfan syndrome versus neonatal Marfan syndrome. AM J MED GENET A 2005;139A (1):1 [PubMed]
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli MLG, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, van der Burgt I, Black GCM, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V, Identification of mutations in CUL7 in 3-M syndrome. NAT GENET 2005;37 (10):1119-1124 [PubMed]
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RCM, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GCM, Biesecker LG, Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. AM J HUM GENET 2005;76 (4):609-622 [PubMed]
Kaissi AA, Chehida FB, Gharbi H, Ghachem MB, Hendaoui L, Hennekam RCM, Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity. AM J MED GENET A 2005;138A (4):374-378 [PubMed]
Kuijpers TW, Alders M, Tool ATJ, Mellink C, Roos D, Hennekam RCM, Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. BLOOD 2005;106 (1):356-361 [PubMed]
Levy N, López-Otín C, Hennekam RCM, Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy. ARCH DERMATOL 2005;141 (11):1473-1474 [PubMed]
Mathijssen IB, Hoovers JMN, Mul ANPM, Man HY, Ket JL, Hennekam RCM, Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome. AM J MED GENET A 2005;136A (1):76-80 [PubMed]
Merks JHM, Caron HN, Hennekam RCM, High incidence of malformation syndromes in a series of 1,073 children with cancer. AM J MED GENET A 2005;134A (2):132-143 [PubMed]
Merks JHM, Smets AM, van Rijn RR, Kobes J, Caron HN, Maas M, Hennekam RCM, Prevalence of RIB anomalies in normal Caucasian children and childhood cancer patients. EUR J MED GENET 2005;48 (2):113-129 [PubMed]
Nannenberg EA, Bijlmer R, van Geel BM, Hennekam RCM, Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome. AM J MED GENET A 2005;133A (1):90-92 [PubMed]
Navarro CL, Cadiñanos J, de Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RCM, López-Otín C, Badens C, Lévy N, Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. HUM MOL GENET 2005;14 (11):1503-1513 [PubMed]
Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC, Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. AM J HUM GENET 2005;77 (6):1021-1033 [PubMed]
Oostra RJ, Hennekam RCM, de Rooij L, Moorman AFM, Malformations of the axial skeleton in Museum Vrolik I: homeotic transformations and numerical anomalies. AM J MED GENET A 2005;134A (3):268-281 [PubMed]
Oostra RJ, van der Wolk S, Maas M, Hennekam RCM, Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions. AM J MED GENET A 2005;136A (4):327-342 [PubMed]
Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RCM, Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome. AM J MED GENET A 2005;137A (1):77-80 [PubMed]
Ozgen HM, Overweg-Plandsoen WCG, Blees-Pelk J, Besselaar PP, Hennekam RCM, Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. AM J MED GENET A 2005;134A (2):215-219 [PubMed]
Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJB, Breuning MH, Hennekam RC, Peters DJM, Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease. AM J HUM GENET 2005;76 (4):572-580 [PubMed]
Rozendaal L, le Cessie S, Wit JM, Hennekam RCM, Growth-reductive therapy in children with marfan syndrome. J PEDIATR-US 2005;147 (5):674-679 [PubMed]
Strømme P, van der Hagen CB, Haakonsen M, Risberg K, Hennekam R, Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism. SCAND J PLAST RECONS 2005;39 (3):178-179 [PubMed]
van Karnebeek CDM, Jansweijer MCE, Leenders AGE, Offringa M, Hennekam RCM, Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. EUR J HUM GENET 2005;13 (1):6-25 [PubMed]
van Karnebeek CDM, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JMN, Koevoets C, Wanders RJA, Hennekam RCM, Etiology of mental retardation in children referred to a tertiary care center: a prospective study. AM J MENT RETARD 2005;110 (4):253-267 [PubMed]
Aldred MA, Sanford ROC, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RCM, Eng C, Dennis NR, Trembath RC, Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J MED GENET 2004;41 (6):433-439 [PubMed]
Bellini C, Mazzella M, Campisi C, Taddei G, Mosca F, Tomà P, Villa G, Boccardo F, Sementa AR, Hennekam RC, Serra G, Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum. LYMPHOLOGY 2004;37 (1):22-30 [PubMed]
Borozdin W, Wright MJ, Hennekam RCM, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J, Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J MED GENET 2004;41 (8):e102 [PubMed]
Brune T, Bonne G, Denecke J, Elcioglu N, Hennekam RCM, Marquardt T, Ozgen H, Stamsnijder M, Steichen E, Steinmann B, Wehnert M, Levy N, Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders. PEDIATR ENDOCRINOL REV 2004;2 (1):39-45 [PubMed]
de Bie S, de Paepe A, Delvaux I, Davies S, Hennekam RCM, Marfan syndrome in Europe - A questionnaire study on patient perceptions. COMMUNITY GENET 2004;7 (4):216-225 [PubMed]
de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BCJ, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CTS, Breuning MH, Wit JM, Genotype-phenotype correlation in patients suspected of having Sotos syndrome. HORM RES 2004;62 (4):197-207 [PubMed]
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D, MICRO syndrome: An entity distinct from COFS syndrome. AM J MED GENET A 2004;128A (3):235-245 [PubMed]
Hammond P, Hutton TJ, Allanson JE, Campbell LE, Hennekam RCM, Holden S, Patton MA, Shaw A, Temple IK, Trotter M, Murphy KC, Winter RM, 3D analysis of facial morphology. AM J MED GENET A 2004;126A (4):339-348 [PubMed]
Hennekam RCM. Richtlijn diagnostisch onderzoek bij kinderen met een ontwikkelingsachterstand of verstandelijke handicap in: ten Horn GHMM, Buntinx GHE, Klapwijk ET, van Lieshout PAH, Vos-Olyslager A, van Zijderveld B, editors. Handboek Mogelijkheden. Vraaggerichte zorg voor mensen met een verstandelijke handicap.. S.l.: Elsevier gezondheidszorg; 2004., p. 1-33
Hennekam RCM, The challenge in hidden treasures: A never ending story. AM J MED GENET A 2004;126A (4):331-332
Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RCM, Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. PEDIATRICS 2004;114 (3):E387-E391 [PubMed]
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RCM, Further delineation of Frank-ter Haar syndrome. AM J MED GENET A 2004;131A (2):127-133 [PubMed]
Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I, PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J MED GENET 2004;41 (5):373-380 [PubMed]
Mellink CHM, Alders M, van der Lelie H , Hennekam RHC, Kuijpers TW, SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?. CANCER GENET CYTOGEN 2004;154 (2):144-149 [PubMed]
Merks JH, Ceelie N, Caron HN, Hennekam RC, Neuroblastoma, maternal valproic acid use, in-vitro fertilization and family history of mosaic chromosome 22: coincidence or causal relationship?. CLIN DYSMORPHOL 2004;13 (3):197-198 [PubMed]
Merks JHM. Phenotypic abnormalities in childhood cancer patients; clues for molecular defects?. S.l.: s.n.; 2004. 208p. ISBN 90-9018757-X [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Caron HN, Hennekam RCM; copromotor(s): )
Navarro CL, de Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Sillevis Smitt H, Vabres P, Faivre L, Verloes A, van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. HUM MOL GENET 2004;13 (20):2493-2503 [PubMed]
Petrij F, Breuning MH, Hennekam RCM, Giles RH. CBP: Rubinstein-Taybi syndrome in: Epstein CF, Erickson RP, Wynshaw-Boris A, editors. Inborn Errors of Development. S.l.: Oxford University Press; 2004., p. 728-746
van Balkom IDC, Beemer FA, Hennekam RCM, Ernstige gedragsproblemen bij kinderen met een handicap: het Smith-Magenis-syndroom. TIJDSCHR PSYCHIATR 2004;46:747-754
Waterham HR, Koster J, Romeijn GJ, Vreken P, Hennekam RCM, Andersson HC, Fitzpatrick DR, Kelley RI, Wanders RJA, Moleculaire basis van desmosterolosis, een autosomaal recessief overervend defect in de cholesterol. NED TIJDSCHR GENEESKD 2004;148 (5):253
Bellini C, Mazzella M, Arioni C, Campisi C, Taddei G, Tomà P, Boccardo F, Hennekam RC, Serra G, Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. AM J MED GENET A 2003;120A (1):92-96 [PubMed]
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RCM, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG, Protein-truncating mutations in ASPM cause variable reduction in brain size. AM J HUM GENET 2003;73 (5):1170-1177 [PubMed]
Breugem CC. Progress toward understanding vascular malformations. S.l.: s.n.; 2003. 171p. ISBN 90-9016060-4 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): van der Horst CMAM, Reekers JA; copromotor(s): Hennekam RCM, Maas M)
Hennekam RCM, Costello syndrome: An overview. AM J MED GENET C 2003;117 (1):42-48 [PubMed]
Hennekam RCM, The challenge in hidden treasures: a never ending story. PEDIATR CLIN AMSTERDAM 2003;-:4-6
Hennekam RCM, Barth PG. Syndromic cortical dysplasia: A review in: Barth PG, editor. Disorders of Neuronal Migration. London: Mac Keith Press; 2003., p. 135-170
Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RCM, Peters DJM, Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. HUM MOL GENET 2003;12 (4):441-450 [PubMed]
Kuijpers TW, Ridanpää M, Peters M, de Boer I, Vossen JMJJ, Pals ST, Kaitila I, Hennekam RCM, Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. J MED GENET 2003;40 (10):761-766 [PubMed]
Merks JHM, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RCM, PTEN hamartoma tumour syndrome: variability of an entity. J MED GENET 2003;40 (10):e111 [PubMed]
Merks JHM, van Karnebeek CDM, Caron HN, Hennekam RCM, Phenotypic abnormalities: Terminology and classification. AM J MED GENET A 2003;123A (3):211-230 [PubMed]
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RCM, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC, Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). AM J HUM GENET 2003;72 (2):429-437 [PubMed]
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RCM, Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J MED GENET 2003;40 (12):937-941 [PubMed]
Pasch MC, Vulsma T, Hennekam RCM, Bikker H, Sillevis Smitt JH, Osteoma cutis en een mutatie in het GNAS-1-gen, waarschijnlijk in het kader van Albright's hereditaire osteodystrofie. NED TIJDSCHR DERMATOL VENEREOL 2003;13:220-222
Rozendaal L, del Canho H, Waterham HR, Hennekam RCM, Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. CLIN DYSMORPHOL 2003;12 (1):9-13 [PubMed]
Sillevis Smitt JH , Hennekam RCM. The ehlers-danlos syndrome (ch 10) in: Oranje AP, de Waard-van der Spek FB, Bilo RAC, editors. Dermatology from young to old. Rotterdam: s.n.; 2003., p. 99-103
van Vlijmen-van Keulen CJ, Vahl AC, Hennekam RCM, Rauwerda JA, Pals G, Genetic linkage of candidate genes in families with abdominal aortic aneurysms?. EUR J VASC ENDOVASC 2003;26 (2):205-210 [PubMed]
Waterham HR, Koster J, Mooyer P, van Noort G, Kelley RI, Wilcox WR, Wanders RJA, Hennekam RCM, Oosterwijk JC, Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. AM J HUM GENET 2003;72 (4):1013-1017 [PubMed]
Wessels MW, den Hollander NJ, de Krijger RR, Nikkels PGJ, Brandenburg H, Hennekam R, Willems PJ, Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review. AM J MED GENET A 2003;120A (1):97-104 [PubMed]
Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MMAM, van der Horst CM, Hennekam RCM, A locus for hereditary capillary malformations mapped on chromosome 5q. HUM GENET 2002;110 (4):343-347 [PubMed]
Breugem CC, van der Horst CMAM, Hennekam RCM, More on vascular malformations - Reply. PLAST RECONSTR SURG 2002;109 (7):2594-2595
Groenink M, Hennekam RCM, Mulder BJM. Marfan's syndrome in: Burg FD, Ingelfinger JR, Polin RA, Geshon A, editors. Current Pediatric Therapy 17. Philadelphia: Saunders; 2002., p. 526-527
Hennekam RCM. Syndromic Hand Anomalies in: Hovius S, editor. The pediatric upper limb. S.l.: Martin Dunitz Ltd; 2002., p. 1-8
Maillette de Buy Wenniger-Prick LJJM, Hennekam RCM, The Peters' plus syndrome: a review. ANN GENET-PARIS 2002;45 (2):97-103 [PubMed]
Scheper FY, Hennekam RCM, Tourette syndrome, growth retardation, and platyspondyly: an entity?. CLIN DYSMORPHOL 2002;11 (3):209-211 [PubMed]
Slavotinek AM, Searby C, Al-Gazali L, Hennekam RCM, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG, Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. HUM GENET 2002;110 (6):561-567 [PubMed]
Tabbers MM, van de Veer EMA, Lam J, van der Horst CMAM, Hennekam RCM, Een pasgeborene met pentalogie van Cantrell en frontonasale dysplasie. TIJDSCHR KINDERGENEESKD 2002;70 (4):164-169
van Balkom IDC, Alders M, Allanson J, Bellini C, Frank U, de Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RCM, Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review. AM J MED GENET 2002;112 (4):412-421 [PubMed]
van Karnebeek CD. Mental retardation: diagnostic studies on aetiology. S.l.: s.n.; 2002. 279p. ISBN 90-9016185-6 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Heymans HSA; copromotor(s): Hennekam RCM, Hoovers JMN)
van Karnebeek CDM, Koevoets C, Sluijter S, Bijlsma EK, Smeets DFMC, Redeker EJ, Hennekam RCM, Hoovers JMN, Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J MED GENET 2002;39 (8):546-553 [PubMed]
van Karnebeek CDM, Quik S, Sluijter S, Hulsbeek MMF, Hoovers JMN, Hennekam RCM, Further delineation of the chromosome 14q terminal deletion syndrome. AM J MED GENET 2002;110 (1):65-72 [PubMed]
van Karnebeek CDM, van Gelderen I, Nijhof GJ, Abeling NG, Vreken P, Redeker EJ, van Eeghen AM, Hoovers JMN, Hennekam RCM, An aetiological study of 25 mentally retarded adults with autism. J MED GENET 2002;39 (3):205-214 [PubMed]
Bakker B, Bikker H, Hennekam RC, Lommen EJ, Schipper MG, Vulsma T, de Vijlder JJ, Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. J CLIN ENDOCR METAB 2001;86 (3):1164-1168 [PubMed]
Bellini C, Bonioli E, Josso N, Belville C, Mazzella M, Costabel S, Sementa AR, Marino CE, Tomà P, Hennekam RC, Serra G, Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. AM J MED GENET 2001;104 (1):69-74 [PubMed]
Bliek J, maas SM , Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM, Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. HUM MOL GENET 2001;10 (5):467-476 [PubMed]
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV, Meier-Gorlin syndrome: report of eight additional cases and review. AM J MED GENET 2001;102 (2):115-124 [PubMed]
Breugem CC, van der Horst CM, Hennekam RC, Progress toward understanding vascular malformations. PLAST RECONSTR SURG 2001;107 (6):1509-1523 [PubMed]
Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM, PTEN mutations and proteus syndrome. LANCET 2001;358 (9298):2079-2080 [PubMed]
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, de Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, Lacombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML, LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. CELL 2001;107 (4):513-523 [PubMed]
Hennekam RCM, Gorlin RJ, Cohen MM, editors, Syndromes of the Head and Neck. New York: Oxford University Press; 2001. 1283p.
Hennekam RC, Waterham HR, Wanders RJ, Aronson DC, No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis. AM J MED GENET 2001;99 (3):256-257 [PubMed]
Jira PE, Wanders RJ, Smeitink JA, de Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR, Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. ANN HUM GENET 2001;65 (Part 3):229-236 [PubMed]
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B, Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. AM J HUM GENET 2001;68 (1):81-91 [PubMed]
Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJ, van der Wall EE, Smit R, Hennekam RC, Quantitative assessment of dural ectasia as a marker for Marfan syndrome. RADIOLOGY 2001;220 (2):514-518 [PubMed]
van Haelst MM, Hoogeboom J, Galjaard RJ, Kleijer WJ, den Hollander NS, de Krijger RR, Hennekam RC, Niermeijer MF, Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome. AM J MED GENET 2001;104 (1):65-68 [PubMed]
van Karnebeek CD, Naeff MS, Mulder BJ, Hennekam RC, Offringa M, Natural history of cardiovascular manifestations in Marfan syndrome. ARCH DIS CHILD 2001;84 (2):129-137 [PubMed]
Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, Fitzpatrick DR, Kelley RI, Wanders RJ, Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. AM J HUM GENET 2001;69 (4):685-694 [PubMed]
Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C, Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. LANCET 2001;358 (9277):210-211 [PubMed]
Celli J , van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG, Familial syndromic esophageal atresia maps to 2p23-p24. AM J HUM GENET 2000;66 (2):436-444 [PubMed]
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ, Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. AM J HUM GENET 2000;67 (1):197-202 [PubMed]
Kelley RI, Hennekam RC, The Smith-Lemli-Opitz syndrome. J MED GENET 2000;37 (5):321-335 [PubMed]
maas SM , Hoovers JM, van Seggelen ME, Menzel DM, Hennekam RC, Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?. CLIN DYSMORPHOL 2000;9 (1):47-53 [PubMed]
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L, Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. AM J HUM GENET 2000;66 (2):368-377 [PubMed]
Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ, Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. NAT GENET 2000;24 (1):71-74 [PubMed]
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH, Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J MED GENET 2000;37 (3):168-176 [PubMed]
Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ, Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). AM J MED GENET 2000;92 (1):47-52 [PubMed]
Ravazzolo R, Cossu G, Hennekam RC, From developmental biology to dysmorphology. EUR J HUM GENET 2000;8 (10):813 [PubMed]
Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, de Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E, Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. HUM MUTAT 2000;15 (3):293 [PubMed]
van den Berg JS, Hennekam RC, Cruysberg JR, Steijlen PM, Swart J, Tijmes N, Limburg M, Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. CEREBROVASC DIS 2000;10 (4):315-319 [PubMed]
van Genderen MM, Kinds GF, Riemslag FC, Hennekam RC, Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. BRIT J OPHTHALMOL 2000;84 (10):1177-1184 [PubMed]
Waterham HR, Oostheim W, Romeijn GJ, Wanders RJ, Hennekam RC, Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. J MED GENET 2000;37 (5):387-389 [PubMed]
Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC, Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J MED GENET 1999;36 (8):604-609 [PubMed]
Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM, Polytopic anomalies with agenesis of the lower vertebral column. AM J MED GENET 1999;87 (2):99-114 [PubMed]
Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M, A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. HUM MOL GENET 1999;8 (9):1785-1789 [PubMed]
Celli J , Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H, Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. CELL 1999;99 (2):143-153 [PubMed]
Groenink M, Lohuis TA, Tijssen JG, Naeff MS, Hennekam RC, van der Wall EE, Mulder BJ, Survival and complication free survival in Marfan's syndrome: implications of current guidelines. HEART 1999;82 (4):499-504 [PubMed]
Hennekam RC, Kwa VI, van Amerongen A, Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?. CLIN DYSMORPHOL 1999;8 (2):111-115 [PubMed]
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I, Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. BRIT J HAEMATOL 1999;107 (2):335-339 [PubMed]
maas SM , Brooks AS, Hennekam RC, Heydendael VM, Wijburg FA, Hofstra RM, Genen en genetica bij de ziekte van Hirschsprung. NED TIJDSCHR GENEESKD 1999;143 (26):1352-1356 [PubMed]
Oostra RJ, Baljet B, Hennekam RCM, Reply to letter to the editor of Jean-Pierre Fryns - "On the nosology of severe acrofacial dysostosis with limb deficiency". AM J MED GENET 1999;82 (3):283
Oostra RJ, Dijkstra PF, Baljet B, Verbeeten BW, Hennekam RC, A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome. AM J MED GENET 1999;85 (2):134-139 [PubMed]
van den Berg H, Hennekam RC, Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J MED GENET 1999;36 (10):799-800 [PubMed]
van den Berg JS, Pals G, Arwert F, Hennekam RC, Albrecht KW, Westerveld A, Limburg M, Type III collagen deficiency in saccular intracranial aneurysms. Defect in gene regulation?. STROKE 1999;30 (8):1628-1631 [PubMed]
van Eeghen AM, van Gelderen I, Hennekam RC, Costello syndrome: report and review. AM J MED GENET 1999;82 (2):187-193 [PubMed]
van Karnebeek CD, Hennekam RC, Associations between chromosomal anomalies and congenital heart defects: a database search. AM J MED GENET 1999;84 (2):158-166 [PubMed]
Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M, Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. NAT GENET 1998;20 (2):180-183 [PubMed]
Deutz-Terlouw PP, Losekoot M, Aalfs CM, Hennekam RC, Bakker E, Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. HUM MUTAT 1998;11 (Suppl. 1):S62-S65 [PubMed]
Groenink M, Rozendaal L, Naeff MS, Hennekam RC, Hart AA, van der Wall EE, Mulder BJ, Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. HEART 1998;80 (2):163-169 [PubMed]
Groen SE, Drewes JG, de Boer EG, Hoovers JM, Hennekam RC, Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. AM J MED GENET 1998;80 (5):448-453 [PubMed]
Hennekam RC, Goldschmeding R, Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?. EUR J HUM GENET 1998;6 (1):71-74 [PubMed]
Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF, Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. AM J MED GENET 1998;76 (3):262-268 [PubMed]
Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC, Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. AM J MED GENET 1998;77 (2):116-134 [PubMed]
Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC, Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. AM J MED GENET 1998;77 (2):100-115 [PubMed]
Oostra RJ, Baljet B, Hennekam RC, Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube. AM J MED GENET 1998;80 (1):60-73 [PubMed]
Oostra RJ, Baljet B, Hennekam RC, Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. AM J MED GENET 1998;78 (2):195-197 [PubMed]
Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC, Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies. AM J MED GENET 1998;80 (1):46-59 [PubMed]
Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC, Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V: conjoined and acardiac twins. AM J MED GENET 1998;80 (1):74-89 [PubMed]
O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M, Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. AM J HUM GENET 1998;62 (1):130-135 [PubMed]
Rider LG, Gurley RC, Pandey JP, Garcia de la Torre I, Kalovidouris AE, O'Hanlon TP, Love LA, Hennekam RC, Baumbach LL, Neville HE, Garcia CA, Klingman J, Gibbs M, Weisman MH, Targoff IN, Miller FW, Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy. ARTHRITIS RHEUM-US 1998;41 (4):710-719 [PubMed]
Rozendaal L, Groenink M, Naeff MS, Hennekam RC, Hart AA, van der Wall EE, Mulder BJ, Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation. HEART 1998;79 (1):69-72 [PubMed]
van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC, Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. J MED GENET 1998;35 (4):323-327 [PubMed]
van Balkom ID, Quartel S, Hennekam RC, Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. AM J MED GENET 1998;75 (3):273-276 [PubMed]
Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ, Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. AM J HUM GENET 1998;63 (2):329-338 [PubMed]
Aalfs CM, Fantes JA, Wenniger-Prick LJ, Sluijter S, Hennekam RC, van Heyningen V, Hoovers JM, Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?. AM J MED GENET 1997;73 (3):267-271 [PubMed]
Allanson JE, Hennekam RC, Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. AM J MED GENET 1997;71 (4):414-419 [PubMed]
Allanson JE, Hennekam RC, Ireland M, De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J MED GENET 1997;34 (8):645-650 [PubMed]
Bakker HD, Hennekam RC, Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation--a sib observation. AM J MED GENET 1997;70 (3):312-314 [PubMed]
Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D, Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. CLIN DYSMORPHOL 1997;6 (4):291-302 [PubMed]
de Paepe A, Hennekam RC, Marfan syndrome. J MED GENET 1997;34 (7):614 [PubMed]
Oostra RJ, Baljet B, Schutgens RB, Hennekam RC, Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. AM J MED GENET 1997;68 (3):257-259 [PubMed]
Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM, Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. AM J HUM GENET 1997;60 (4):818-827 [PubMed]
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A, Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. NAT GENET 1997;17 (3):285-291 [PubMed]
van den Berg JS, Limburg M, Pals G, Arwert F, Westerveld A, Hennekam RC, Albrecht KW, Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio. A case-control study. NEUROLOGY 1997;49 (6):1546-1551 [PubMed]
Wanders RJ, Romeijn GJ, Wijburg F, Hennekam RC, de Jong J, Wevers RA, Dacremont G, Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection. J INHERIT METAB DIS 1997;20 (3):432-436 [PubMed]
Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA, Het Smith-Lemli-Opitz-syndroom; een bijzonder defect in het cholesterolmetabolisme. NED TIJDSCHR GENEESKD 1996;140 (28):1463-1466 [PubMed]
Aalfs CM, Jacobs ME, Nieste-Otter MA, Hennekam RC, Hoovers JM, Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. CLIN GENET 1996;49 (1):42-45 [PubMed]
Aalfs CM, Oosterwijk JC, van Schooneveld MJ, Begeman CJ, Wabeke KB, Hennekam RC, Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?. CLIN DYSMORPHOL 1996;5 (2):93-103 [PubMed]
Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC, Further delineation of the acro-renal-ocular syndrome. AM J MED GENET 1996;62 (3):276-281 [PubMed]
Ausems MG, Wittebol-Post D, Hennekam RC, Cleft lip and cone-rod dystrophy in a consanguineous sibship. CLIN DYSMORPHOL 1996;5 (4):307-311 [PubMed]
Beuten J, Hennekam RC, van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ, Angelman syndrome in an inbred family. HUM GENET 1996;97 (3):294-298 [PubMed]
Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ, Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. AM J MED GENET 1996;63 (2):414-415 [PubMed]
Culić V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC, A Croatian case of the Schinzel-Giedion syndrome. GENET COUNSEL 1996;7 (1):21-25 [PubMed]
de Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE, Revised diagnostic criteria for the Marfan syndrome. AM J MED GENET 1996;62 (4):417-426 [PubMed]
Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ, Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. HUM MOL GENET 1996;5 (10):1533-1538 [PubMed]
Hennekam RC, Gorlin RJ, Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome. AM J MED GENET 1996;65 (2):146-148 [PubMed]
Hennekam RC, van Bever Y, Oorthuys JW, Acromicric dysplasia and geleophysic dysplasia: similarities and differences. EUR J PEDIATR 1996;155 (4):311-314 [PubMed]
Hennekam RC, van der Horst CM, A boy with a cleft lip and palate, tritubercular incisors, and finger anomaly. CLIN DYSMORPHOL 1996;5 (4):303-305 [PubMed]
Israëls T, Hoovers J, Turpijn HM, Wijburg FA, Hennekam RC, Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. CLIN GENET 1996;50 (6):520-524 [PubMed]
Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M, Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?. AM J MED GENET 1996;66 (4):478-484 [PubMed]
Kroon AA, Smit BJ, Barth PG, Hennekam RC, Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. NEUROPEDIATRICS 1996;27 (5):273-276 [PubMed]
Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF, Angelman syndrome in adulthood. AM J MED GENET 1996;66 (3):356-360 [PubMed]
maas SM , de Jong TP, Buss P, Hennekam RC, EEC syndrome and genitourinary anomalies: an update. AM J MED GENET 1996;63 (3):472-478 [PubMed]
van Balkom ID, Gunning WB, Hennekam RC, Foetaal alcoholsyndroom: een miskende oorzaak van verstandelijke handicap en probleemgedrag in Nederland. NED TIJDSCHR GENEESKD 1996;140 (11):592-595 [PubMed]
van Bever Y, Dijkstra PF, Hennekam RC, Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects. AM J MED GENET 1996;65 (3):213-217 [PubMed]
van den Berg JS, Limburg M, Hennekam RC, Is Marfan syndrome associated with symptomatic intracranial aneurysms?. STROKE 1996;27 (1):10-12 [PubMed]
van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM, Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. CLIN GENET 1996;49 (1):49-53 [PubMed]
Aalfs CM, Hennekam RC, Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. AM J MED GENET 1995;58 (4):385 [PubMed]
Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ, Further delineation of the partial proximal trisomy 10q syndrome. J MED GENET 1995;32 (12):968-971 [PubMed]
Aalfs CM, van den Berg H, Barth PG, Hennekam RC, The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. EUR J PEDIATR 1995;154 (4):304-308 [PubMed]
Aalfs CM, VANDENBERG H, Barth PG, Hennekam RCM, THE HOYERAAL-HREIDARSSON SYNDROME - DONT FORGET THE ASSOCIATED IMMUNODEFICIENCY - REPLY. EUR J PEDIATR 1995;154 (12):998
Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP, Clinical profile of Angelman syndrome at different ages. AM J MED GENET 1995;56 (2):176-183 [PubMed]
Hennekam RC, Cohen MM Jr, Hypothesis: patient with possible disturbance in programmed cell death. EUR J HUM GENET 1995;3 (6):374-377 [PubMed]
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. NATURE 1995;376 (6538):348-351 [PubMed]
van Bever Y, Hennekam RC, Haspeslagh syndrome without severe mental retardation and pterygia?. CLIN GENET 1995;47 (5):263-266 [PubMed]
van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ, DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). HUM GENET 1995;95 (5):562-567 [PubMed]
Ausems MG, Bhola SL, Post-Blok CA, Hennekam RC, de France HF, 18q- and 18q+ mosaicism in a mentally retarded boy. AM J MED GENET 1994;53 (3):296-299 [PubMed]
de Knecht-van Eekelen A, Hennekam RC, Historical study: Cornelia C. de Lange (1871-1950)--a pioneer in clinical genetics. AM J MED GENET 1994;52 (3):257-266 [PubMed]
Hennekam RC, Scalp lipomas and cerebral malformations: overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. CLIN DYSMORPHOL 1994;3 (1):87-89 [PubMed]
Hennekam RC, Schisis, een voortdurend probleem voor de patiënt?. NED TIJDSCHR GENEESKD 1994;138 (29):1495-1496 [PubMed]
Hennekam RC, Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. J MED GENET 1994;31 (3):251-252 [PubMed]
Hennekam RC, Huber J, Variend D, Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?. AM J MED GENET 1994;53 (2):102-107 [PubMed]
Hennekam RC, Limburg M, Pals G, 3-M syndrome and intracerebral aneurysms. J MED GENET 1994;31 (11):898 [PubMed]
Hennekam RCM, JOHNSON-MCMILLIN SYNDROME - REPORT OF ANOTHER FAMILY - REPLY. AM J MED GENET 1994;52 (4):494
Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC, Schaefer GB, Weik L, Lubinsky MS, Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. P NATL ACAD SCI USA 1994;91 (17):8102-8106 [PubMed]
Oostra RJ, Baljet B, Hennekam RC, Brachmann-de Lange syndrome "avant la lettre". AM J MED GENET 1994;52 (3):267-268 [PubMed]
van Balkom ID, Hennekam RC, Dermal eccrine cylindromatosis. J MED GENET 1994;31 (4):321-324 [PubMed]
van Bever Y, Hennekam RC, Isolated macrodactyly or extremely localized Proteus syndrome?. CLIN DYSMORPHOL 1994;3 (4):351-352 [PubMed]
van Langen IM, Hennekam RC, Another example of the human homologue of the mouse mutant disorganization?. CLIN DYSMORPHOL 1994;3 (4):361-362 [PubMed]
Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RC, van Broeckhoven C, Willems PJ, Molecular study of chromosome 15 in 22 patients with Angelman syndrome. HUM GENET 1993;90 (5):489-495 [PubMed]
Bouwens-Rombouts AG, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG, Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. HUM GENET 1993;91 (5):451-454 [PubMed]
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC, Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. AM J HUM GENET 1993;52 (2):249-254 [PubMed]
del Canho H, van den Bergh FA, Duran M, Hennekam RC, Gröniger AM, Poorthuis BJ, De ziekte van Sanfilippo type D bij een 8-jarige jongen; een zeldzame oorzaak van mentale retardatie. NED TIJDSCHR GENEESKD 1993;137 (19):969-972 [PubMed]
Hennekam RC, Lingua cochlearis in multiple pterygium syndrome. AM J MED GENET 1993;47 (5):761 [PubMed]
Hennekam RC, Rubinstein-Taybi syndrome: a history in pictures. CLIN DYSMORPHOL 1993;2 (1):87-92 [PubMed]
Hennekam RC, Holtus FJ, Johnson-McMillin syndrome: report of another family. AM J MED GENET 1993;47 (5):714-716 [PubMed]
Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH, Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. AM J HUM GENET 1993;52 (2):255-262 [PubMed]
Hennekam RC, van Schooneveld MJ, Ardinger HH, van den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P, The Peters'-Plus syndrome: description of 16 patients and review of the literature. CLIN DYSMORPHOL 1993;2 (4):283-300 [PubMed]
Hofstee Y, Kors N, Hennekam RC, Genetic survey of a group of children with clefting: implications for genetic counseling. CLEFT PALATE-CRAN J 1993;30 (5):447-451 [PubMed]
Kääriäinen H, Barrow M, Hennekam R, Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature. AM J MED GENET 1993;46 (2):223-227 [PubMed]
van Noort G, Straks W, van Diggelen OP, Hennekam RC, A congenital variant of glycogenosis type IV. PEDIATR PATHOL 1993;13 (5):685-698 [PubMed]
Wittebol-Post D, Hennekam RC, Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?. CLIN DYSMORPHOL 1993;2 (4):346-350 [PubMed]
Hennekam RC, Another human homologue for the mouse mutant disorganisation. J MED GENET 1992;29 (1):71 [PubMed]
Hennekam RC, Aplasia cutis congenita reminiscent of the lines of Blaschko. HUM GENET 1992;90 (4):469-471 [PubMed]
Hennekam RC, Automutilatie. NED TIJDSCHR GENEESKD 1992;136 (18):893 [PubMed]
Hennekam RC, Baselier AC, Beyaert E, Bos A, Blok JB, Jansma HB, Thorbecke-Nilsen VV, Veerman H, Psychological and speech studies in Rubinstein-Taybi syndrome. AM J MENT RETARD 1992;96 (6):645-660 [PubMed]
Hennekam RC, Beemer FA, Skin mastocytosis, hearing loss and mental retardation. CLIN DYSMORPHOL 1992;1 (2):85-88 [PubMed]
Hennekam RC, Rotteveel JJ, Hall JG, Fetal hypokinesia sequence caused by maternal autoimmune disorder?. AM J MED GENET 1992;43 (6):1047-1048 [PubMed]
Hennekam RC, van Rhijn A, Hennekam FA, Dominantly inherited microcephaly, short stature and normal intelligence. CLIN GENET 1992;41 (5):248-251 [PubMed]
Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD, Oculoauriculovertebral spectrum and cerebral anomalies. J MED GENET 1992;29 (5):326-331 [PubMed]
van Balkom ID, Hagendoorn J, de Pater JM, Hennekam RC, Partial monosomy 8p and partial trisomy 8p with moderate mental retardation. GENET COUNSEL 1992;3 (2):83-89 [PubMed]
van Doornik MC, Hennekam RC, Hemi-hydranencephaly with favourable outcome. DEV MED CHILD NEUROL 1992;34 (5):454-458 [PubMed]
Verbraak FD, Pogány K, Pilon JW, Mooy CM, de France HF, Hennekam RC, Bleeker-Wagemakers EM, Congenital glaucoma in a child with partial 1q duplication and 9p deletion. OPHTHALMIC PAEDIATR GENET 1992;13 (3):165-170 [PubMed]
Hennekam RC, Chromosomal localisation of the Rubinstein-Taybi syndrome?. AM J MED GENET 1991;38 (4):634-635 [PubMed]
Hennekam RC, Hereditary multiple exostoses. J MED GENET 1991;28 (4):262-266 [PubMed]
Hennekam RC, Osteogenesis imperfecta; meer dan veel fracturen alleen. NED TIJDSCHR GENEESKD 1991;135 (1):30 [PubMed]
Hennekam RC, Short rib syndrome--Beemer type in sibs. AM J MED GENET 1991;40 (2):230-233 [PubMed]
Hennekam RC, Barth PG, van Lookeren Campagne W, de Visser M, Dingemans KP, A family with severe X-linked arthrogryposis. EUR J PEDIATR 1991;150 (9):656-660 [PubMed]
Hennekam RC, Beyaert EM, Tongreductie bij kinderen met het syndroom van Down; een functionele operatie. NED TIJDSCHR GENEESKD 1991;135 (51):2452-2453 [PubMed]
Hennekam RC, van den Boogaard MJ, van Doorne JM, A cephalometric study in Rubinstein-Taybi syndrome. J CRANIOFAC GENET DEV BIOL 1991;11 (1):33-40 [PubMed]
Hennekam RC, van Noort G, de la Fuente AA, Familial holoprosencephaly, heart defects, and polydactyly. AM J MED GENET 1991;41 (2):258-262 [PubMed]
Hennekam RC, van Noort G, de la Fuente FA, Norbruis OF, Agenesis of the nasal septal cartilage: another sign in autosomal dominant holoprosencephaly. AM J MED GENET 1991;39 (1):121-122 [PubMed]
van den Boogaard MJ, de Pater J, Hennekam RC, A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation. GENET COUNSEL 1991;2 (2):83-91 [PubMed]
Bleeker-Wagemakers LM, Hamel BC, Hennekam RC, Beemer FA, Oorthuys HW, Oculocerebrocutaneous syndrome. J MED GENET 1990;27 (1):69-70 [PubMed]
Hennekam RC, Agnathia-holoprosencephaly: a midline malformation association. AM J MED GENET 1990;36 (4):525 [PubMed]
Hennekam RC, Bibliography on Rubinstein-Taybi syndrome. AM J MED GENET SUPPL 1990;6:77-83 [PubMed]
Hennekam RC, Beemer FA, Cats BP, Jansen G, Staal GE, Hydrops fetalis associated with red cell pyruvate kinase deficiency. GENET COUNSEL 1990;1 (1):75-79 [PubMed]
Hennekam RC, Hiemstra I, Jennekens FG, Kuis W, Juvenile dermatomyositis in first cousins. NEW ENGL J MED 1990;323 (3):199 [PubMed]
Hennekam RC, Hofstee N, Familial liability to intrauterine vascular impairments. PEDIATRICS 1990;86 (2):326-327 [PubMed]
Hennekam RCM, CORRECTION. J MED GENET 1990;27 (5):344
Hennekam RC, Renckens-Wennen EG, Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy. J MED GENET 1990;27 (10):635-636 [PubMed]
Hennekam RC, Stevens CA, van de Kamp JJ, Etiology and recurrence risk in Rubinstein-Taybi syndrome. AM J MED GENET SUPPL 1990;6:56-64 [PubMed]
Hennekam RC, van den Boogaard MJ, Autosomal dominant craniosynostosis of the sutura metopica. CLIN GENET 1990;38 (5):374-377 [PubMed]
Hennekam RC, van den Boogaard MJ, Dijkstra PF, van de Kamp JJ, Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome. AM J MED GENET SUPPL 1990;6:48-50 [PubMed]
Hennekam RC, van den Boogaard MJ, Sibbles BJ, van Spijker HG, Rubinstein-Taybi syndrome in The Netherlands. AM J MED GENET SUPPL 1990;6:17-29 [PubMed]
Hennekam RC, van Doorne JM, Oral aspects of Rubinstein-Taybi syndrome. AM J MED GENET SUPPL 1990;6:42-47 [PubMed]
Janssen LA, Sandkuyl LA, Merkens EC, Maat-Kievit JA, Sampson JR, Fleury P, Hennekam RC, Grosveld GC, Lindhout D, Halley DJ, Genetic heterogeneity in tuberous sclerosis. GENOMICS 1990;8 (2):237-242 [PubMed]
Stevens CA, Hennekam RC, Blackburn BL, Growth in the Rubinstein-Taybi syndrome. AM J MED GENET SUPPL 1990;6:51-55 [PubMed]
Hennekam RC, Acral-genital anomalies combined with ear anomalies. AM J MED GENET 1989;34 (3):454-455 [PubMed]
Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, Tillemans AA, Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. AM J MED GENET 1989;34 (4):593-600 [PubMed]
Hennekam RC, Lommen EJ, Strengers JL, van Spijker HG, Jansen-Kokx TM, Rubinstein-Taybi syndrome in a mother and son. EUR J PEDIATR 1989;148 (5):439-441 [PubMed]
Hennekam RCM, 3-M SYNDROME - COMMENT. AM J MED GENET 1989;32 (2):253
Hennekam RC, van Nieuwenhuizen O, Gooskens RH, Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia. J GENET HUM 1989;37 (4-5):437-438 [PubMed]
Hennekam RC, Veenema H, Bakker E, Jennekens FG, te Velde ER, de Pater J, A male carrier for Duchenne muscular dystrophy. AM J HUM GENET 1989;44 (4):591-592 [PubMed]
Hennekam RC, Vermeulen-Meiners C, Further delineation of the Yunis-Varon syndrome. J MED GENET 1989;26 (1):55-58 [PubMed]
Hennekam RC, Lommen EJ, Ectrodactyly in sisters and half sisters. J MED GENET 1988;25 (2):134-135 [PubMed]
Hennekam RC, van de Meeberg AG, van Doorne JM, Dijkstra PF, Bijlsma JB, Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. EUR J PEDIATR 1988;147 (5):539-543 [PubMed]
Hennekam RC, LADD syndrome: a distinct entity?. EUR J PEDIATR 1987;146 (1):94-95 [PubMed]
Hennekam RC, Bijlsma JB, Spranger J, Further delineation of the 3-M syndrome with review of the literature. AM J MED GENET 1987;28 (1):195-209 [PubMed]
Hennekam RC, Beemer FA, van Merrienboer F, van Ketel BA, Kramer PP, Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case. AM J MED GENET SUPPL 1986;2:45-52 [PubMed]
Hennekam RC, Beemer FA, Huijbers WA, Hustinx PA, van Sprang FJ, The cerebro-costo-mandibular syndrome: third report of familial occurrence. CLIN GENET 1985;28 (2):118-121 [PubMed]
Beemer FA, Hennekam RC, Het Dyggve-Melchior-Clausen syndroom. TIJDSCHR KINDERGENEESKD 1984;52 (3):103-107 [PubMed]
Gerards LJ, Hennekam RC, von Dijk WC, Roord JJ, Fleer A, An outbreak of gastroenteritis due to Escherichia coli 0142 H6 in a neonatal department. J HOSP INFECT 1984;5 (3):283-288 [PubMed]
Hennekam RC, Muis N, Bloem GW, de Vries LS, Beemer FA, De "CHARGE-associatie"; een combinatie van congenitale afwijkingen. NED TIJDSCHR GENEESKD 1984;128 (22):1050-1053 [PubMed]
Hennekam RC, Beemer FA, Gerards LJ, Cats BP, Thoracic pelvic phalangeal dystrophy (Jeune syndroom). TIJDSCHR KINDERGENEESKD 1983;51 (3):95-100 [PubMed]
Hennekam RC, Donckerwolcke RA, Primary hypomagnesaemia, an autosomal recessive inherited disease?. LANCET 1983;1 (8330):927 [PubMed]
Key publications

Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg ASP, Fliers E, Schwabe JWR, Hennekam RC, A specific mutation in TBL1XR1 causes Pierpont syndrome. J MED GENET 2016;53 (5):330-337 [PubMed]
Rutsch F, Macdougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A, Hennekam RC, A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome. AM J HUM GENET 2015;96 (2):275-282 [PubMed]
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TEJ, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC, Mutations in ZBTB20 cause Primrose syndrome. NAT GENET 2014;46 (8):815-817 [PubMed]
Hennekam RCM, Biesecker LG, Next-Generation Sequencing Demands Next-Generation Phenotyping. HUM MUTAT 2012;33 (5):884-886 [PubMed]
van Houdt JKJ, Nowakowska BA, Sousa SB, van Schaik BDC, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJH, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AHC, Devriendt K, Hennekam R, Vermeesch JR, Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. NAT GENET 2012;44 (4):445-U261 [PubMed]


All Publications

Curriculum Vitae

Dr Raoul CM Hennekam received his MD degree and his specialty trainings in Paediatrics and a second one in Clinical Genetics at the State University of Utrecht, The Netherlands. He wrote a PhD thesis on the Rubinstein-Taybi syndrome in 1990. He was appointed as professor of Paediatrics and Clinical Genetics in 2002 at the Academic Medical Centre of the University of Amsterdam. Between 2005 and 2010 he worked in London at the Institute of Child Health and Great Ormond Street Hospital for Children at the University College London as professor of Clinical Genetics and Dysmorphology. He is presently working as professor of Paediatrics and Translational Genetics at the Department of Paediatrics of the University of Amsterdam and honorary professor of Clinical Genetics and Dysmorphology at the Institute of Neurology of the University College London. His main scientific interests include mental disabilities, autism, connective tissue disorders, and (molecular) dysmorphology. He is member of the National Dutch Health Council, of the European Research council for FP7, and chair of the Interbnational Nomenclature Committee. He is European Editor of the American Journal of Medical Genetics, Associate Editor of the European Journal of Medical Genetics, member of the editorial board of 8 other medical journals, author of 400 papers in the international literature and of 15 chapters in international texts, reviewer for >35 medical journals and >10 international scientific organisations, and senior editor of the major text in Dysmorphology ‘Gorlin’s Syndromes of the Head and Neck’.

Research programmes

Diagnostics and care for rare disorders

a. Diagnostics: these concern both clinical diagnostic procedures and molecular techniques and include next generation sequencing techniques (total exome sequencing; total genome sequencing; total methylome sequencing)

b. Care: these include translational medicine studies; natural history studies; use of modern media in informatics to patients

c. Support work: these include nomenclaturestudies; ontologies; implementation of next generation sequencing in patient care

Faculty
Prof. dr. R.C.M. Hennekam
Dr. J.M. Cobben
Dr. A.M. van Eeghen (Erasmus MC; De Hartekamp Groep Haarlem)
Drs. S.A. Huisman
Drs. W.G. Leeuwenburgh-Pronk
Drs. S.M. Maas
Dr. L.A. Menke

PhD Students
C.A. Heinen
Drs. A.L. van de Kar
C.R. Mitchell
P.A. Mulder
Drs. F.A.M. Postema MSc
Drs. N. Zwaveling-Soonawala

Other research related activities
  • Membership of medical or scientific committee, EU (European Union Committee), European Research Council LS7
  • Membership of advisory board / Consultant, GR (GezondheidsRaad, Dutch Health Council)
  • Membership of medical or scientific committee, Other, WAR Hersenstichting
  • Membership of medical or scientific committee, International Committee on Nomenclature in Clinical Genetics
  • Membership of medical or scientific committee, Other, EME Programme College of Experts
  • Board of directors / Trustees / Supervisory board, Other
  • Contribution to guidelines and protocols, Guidelines CDLS; PTHS; BWS
  • Speakers bureau / Lectures, European Course on Dysmorphology
  • Membership of editorial board / Editorship, AMERICAN JOURNAL OF MEDICAL GENETICS
  • Membership of editorial board / Editorship, EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Membership of editorial board / Editorship, LYMPHATIC RESEARCH AND BIOLOGY
  • Contribution to guidelines and protocols, Diagnostic Procedures in Children and Adults with Mental Retardation in the Netherlands
Current research funding
  • St.Steun Emma Kinderzkh. AMC, Fonds Motiliteitslaboratorium