A.V. Postma PhD publications

foto

wiwir_publications_by A.V. Postma PhD

Position
Research Associate
Main activities
Research
Specialisation
Genetics of rare (congenital) diseases
Focus of research

My research aims to identify the underlying genetic cause(s) in rare (congenital) diseases. To this end I generate data, or employ existing datasets, using various state-of-the-art techniques such as linkage analysis, SNP-chip (GWAS), whole exome or genome sequencing, targeted sequencing, variant analysis and prediction, RNA-seq, pathway analyses, array CGH, and epigenetic techniques such as chip-seq, ATAC-seq, Hi-C etc. The right combination of these techniques and datasets can lead to the identification of the genetic background of rare diseases. My current resarch areas are:

1 Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect, accounting for one-third of all major congenital anomalies. Worldwide, 1.35 million infants are born with CHD each year. In the Netherlands, CHD occurs in 7 per 1000 live births. A broad phenotypic spectrum exists for CHDs. Conotruncal cardiac defects are among the most prevalent and severe. They are associated with severe late complications, requiring lifelong medical care. Tetralogy of Fallot (TOF, consisting of a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy) and Transposition of the Great Arteries (TGA, characterised by ventriculo-arterial discordance, where the pulmonary artery arises from a morphological left ventricle and the aorta arises from a morphological right ventricle), account for more than half of conotruncal cardiac defects and 5-10% of all CHDs. Although there have been tremendous advances in diagnosis and treatment of congenital heart disease (CHD), our knowledge of causes of CHD is very limited. Recent clinical and basic research has shown the importance of genetic factors in causation of CHD. The novel high-throughput DNA sequencing technologies that have lately become available (namely next-generation sequencing, NGS) are now expected to provide an important impetus for CHD gene discovery, even in cases with sporadic (non-familial) presentation. Some recent successful examples are the identification of a gain-of-function mutation in TBX5, a cardiac transcription factor, and its involvement in atrial fibrillation in the setting of Holt-Oram disease. Two GWAS studies on the common genetics of TOF and ASD type II and the identification of MYH7 mutations as a cause of Ebsteins anomaly, and TAB2 mutations in patients with outflow tract defects.
Current major focusses of our group for CHD genetics are:
• Transposition of the Great Arteries
• Tetralogy of Fallot
• Familial (consanguineous) CHD


2 Genetics of rare developmental syndromes/diseases
Congenital cardiac and neural tube defects account for 21 percent of late stage fetal or neonatal loss. Chromosomal aberrations commonly contributing to fetal demise are routinely identified via karyotype or comparative genome hybridization (CGH) array analysis; however, these techniques do not identify single nucleotide changes, thus many affected pregnancies remain without a genetic diagnosis. To understand what the genetic cause is for rare developmental syndromes/diseases we use traditional genetic methods such as linkage analysis or homozygosity analysis, coupled to whole exome or genome sequencing (WES/WGS) and other data sources in the hope to uncover the causal variant(s). Case in point, we were the first to describe a novel syndrome including sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal and to provide evidence that homozygous mutations in the T/Brachyury gene underlie this syndrome. Another recent success story was the linking of the SIRT6 gene, a chromatin-associated protein, to a syndrome involving perinatal loss of life due to a number of severe neurodevelopmental and cardiac anomalies.

Publications, google scholar
https://scholar.google.com/citations?user=UXWBHLoAAAAJ&hl=en


Peer-reviewer profile, publon
https://publons.com/author/665137/alex-postma#profile


ORCID researcher ID
https://orcid.org/0000-0003-4874-2487

2020

  • Verberne Eline A., Faries Sonja, Mannens Marcel M. A. M., Postma Alex V., van Haelst Mieke M. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency American journal of medical genetics. Part A 2020;182 (8):1952-1956 [PubMed]
  • van Walree Eva S., Dombrowsky Gregor, Jansen Iris E., Mirkov Maša Umićević, Zwart Rob, Ilgun Aho, Guo Dongchuan, Clur Sally-Ann B., Amin Ahmed S., Savage Jeanne E., van der Wal Allard C., Waisfisz Quinten, Maugeri Alessandra, Wilsdon Anna, Bu’Lock Frances A., Hurles Matthew E., Dittrich Sven, Berger Felix, Audain Martinez Enrique, Christoffels Vincent M., Hitz Marc-Philip, Milewicz Dianna M., Posthuma Daniëlle, Meijers-Heijboer Hanne, Postma Alex V., Mathijssen Inge B. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms Genetics in medicine 2020 [PubMed]
  • Mohan Rajiv A. Origin and transcriptional control of the cardiac conduction system 2020. 240p. ISBN 9789493197008. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Christoffels Vincent M.; Co-supervisors: Boukens Bas J. D., Postma Alex V.)

2019

  • de Waard Vivian, Postma Alex V. Another Notch for bicuspid aortic valve aortopathy? Trends in cardiovascular medicine 2019;29 (2):69-70 [PubMed]
  • Cobben Jan Maarten, Krzyzewska Izabela M., Venema Andrea, Mul Adri N., Polstra Abeltje, Postma Alex V., Smigiel Robert, Pesz Karolina, Niklinski Jacek, Chomczyk Monika A., Henneman Peter, Mannens Marcel M. A. M. DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes Epigenomics 2019;11 (7):767-785 [PubMed]
  • Kessler Elise L., van Stuijvenberg Leonie, van Bavel Joanne J. A., van Bennekom Joëlle, Zwartsen Anne, Rivaud Mathilde R., Vink Aryan, Efimov Igor R., Postma Alex V., van Tintelen J. Peter, Remme Carol A., Vos Marc A., Banning Antje, de Boer Teun P., Tikkanen Ritva, van Veen Toon A. B. Flotillins in the intercalated disc are potential modulators of cardiac excitability Journal of molecular and cellular cardiology 2019;126:86-95 [PubMed]
  • Škorić-Milosavljević Doris, Tjong Fleur V. Y., Barc Julien, Backx Ad P. C. M., Clur Sally-Ann B., van Spaendonck-Zwarts Karin, Oostra Roelof-Jan, Lahrouchi Najim, Beekman Leander, Bökenkamp Regina, Barge-Schaapveld Daniela Q. C. M., Mulder Barbara J., Lodder Elisabeth M., Bezzina Connie R., Postma Alex V. GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum American journal of medical genetics. Part A 2019;179 (9):1836-1845 [PubMed]
  • Lahrouchi Najim, George Aman, Ratbi Ilham, Schneider Ronen, Elalaoui Siham C, Moosa Shahida, Bharti Sanita, Sharma Ruchi, Abu-Asab Mones, Onojafe Felix, Adadi Najlae, Lodder Elisabeth M, Laarabi Fatima-Zahra, Lamsyah Yassine, Elorch Hamza, Chebbar Imane, Postma Alex V, Lougaris Vassilios, Plebani Alessandro, Altmueller Janine, Kyrieleis Henriette, Meiner Vardiella, McNeill Helen, Bharti Kapil, Lyonnet Stanislas, Wollnik Bernd, Henrion-Caude Alexandra, Berraho Amina, Hildebrandt Friedhelm, Bezzina Connie R, Brooks Brian P, Sefiani Abdelaziz Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly Nature communications 2019;10 (1):1180 [PubMed]
  • Prakash Stuti, Mattiotti Andrea, Sylva Marc, Mulder Barbara J. M., Postma Alex V., van den Hoff Maurice J. B. Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders Molecular genetics and genomic medicine 2019;7 (4) [PubMed]
  • Houweling Arjan C., Beaman Glenda M., Postma Alex V., Blair Gainous T., Lichtenbelt Klaske D., Brancati Francesco, Lopes Filipa M., van der Made Ingeborg, Polstra Abeltje M., Robinson Michael L., Wright Kevin D., Ellingford Jamie M., Jackson Ashley R., Overwater Eline, Genesio Rita, Romano Silvio, Camerota Letizia, D'Angelo Emanuela, Meijers-Heijboer Elizabeth J., Christoffels Vincent M., McHugh Kirk M., Black Brian L., Newman William G., Woolf Adrian S., Creemers Esther E. Loss-of-function variants in myocardin cause congenital megabladder in humans and mice Journal of clinical investigation 2019;129 (12):5374-5380 [PubMed]
  • Page Donna J., Miossec Matthieu J., Williams Simon G., Monaghan Richard M., Fotiou Elisavet, Cordell Heather J., Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L., Winlaw David S., Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J. David, Setchfield Kerry J., Bu'Lock Frances A., O'Sullivan John, Stuart Graham, Bezzina Connie R., Mulder Barbara J. M., Postma Alex V., Bentham James R., Baron Martin, Bhaskar Sanjeev S., Black Graeme C., Newman William G., Hentges Kathryn E., Lathrop G. Mark, Santibanez-Koref Mauro, Keavney Bernard D. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot Circulation research 2019;124 (4):553-563 [PubMed]

2018

  • Ferrer Christina M., Alders Marielle, Postma Alex V., Park Seonmi, Klein Mark A., Cetinbas Murat, Pajkrt Eva, Glas Astrid, van Koningsbruggen Silvana, Christoffels Vincent M., Mannens Marcel M. A. M., Knegt Lia, Etchegaray Jean-Pierre, Sadreyev Ruslan I., Denu John M., Mostoslavsky Gustavo, van Maarle Merel C., Mostoslavsky Raul An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality Genes & development 2018;32 (5-6):373-388 [PubMed]
  • Ellesøe Sabrina G., Workman Christopher T., Bouvagnet Patrice, Loffredo Christopher A., McBride Kim L., Hinton Robert B., van Engelen Klaartje, Gertsen Emma C., Mulder Barbara J. M., Postma Alex V., Anderson Robert H., Hjortdal Vibeke E., Brunak Søren, Larsen Lars A. Familial co-occurrence of congenital heart defects follows distinct patterns European heart journal 2018;39 (12):1015-1022 [PubMed]
  • Jensen Bjarke, Boukens Bastiaan J, Crossley Dane A, Conner Justin, Mohan Rajiv A, van Duijvenboden Karel, Postma Alex V, Gloschat Christopher R, Elsey Ruth M, Sedmera David, Efimov Igor R, Christoffels Vincent M Specialized impulse conduction pathway in the alligator heart eLife 2018;7 [PubMed]
  • de Bortoli Marzia, Postma Alex V., Poloni Giulia, Calore Martina, Minervini Giovanni, Mazzotti Elisa, Rigato Ilaria, Ebert Micaela, Lorenzon Alessandra, Vazza Giovanni, Cipriani Alberto, Bariani Riccardo, Perazzolo Marra Martina, Husser Daniela, Thiene Gaetano, Daliento Luciano, Corrado Domenico, Basso Cristina, Tosatto Silvio C. E., Bauce Barbara, van Tintelen J. Peter, Rampazzo Alessandra Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy Circulation. Genomic and precision medicine 2018;11 (10):e002123 [PubMed]

2017

  • van den Berg Gert, Krasemann Thomas, Postma Alex V. Editorial Commentary: Keeping the congenitally malformed heart in shape Trends in cardiovascular medicine 2017;27 (8):532-533 [PubMed]
  • Lahrouchi Najim, Lodder Elisabeth M., Mansouri Maria, Tadros Rafik, Zniber Layla, Adadi Najlae, Clur Sally-Ann B., van Spaendonck-Zwarts Karin Y., Postma Alex V., Sefiani Abdelaziz, Ratbi Ilham, Bezzina Connie R. Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death European journal of human genetics 2017;25 (6):783-787 [PubMed]
  • van de Meerakker Judith B. A. Genetic aspects of congenital heart defects 2017. 184p. ISBN 9789462997547. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Moorman A. F. M.; Co-supervisors: Mannens M. M. A. M., Postma A. V.)
  • Jansweijer Joeri A., Nieuwhof Karin, Russo Francesco, Hoorntje Edgar T., Jongbloed Jan D. H., Lekanne Deprez Ronald H., Postma Alex V., Bronk Marieke, van Rijsingen Ingrid A. W., de Haij Simone, Biagini Elena, van Haelst Paul L., van Wijngaarden Jan, van den Berg Maarten P., Wilde Arthur A. M., Mannens Marcel M. A. M., de Boer Rudolf A., van Spaendonck-Zwarts Karin Y., van Tintelen J. Peter, Pinto Yigal M. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy European journal of heart failure 2017;19 (4):512-521 [PubMed]

2016

  • Noël Emily S., Momenah Tarek S., Al-Dagriri Khalid, Al-Suwaid Abdulrahman, Al-Shahrani Safar, Jiang Hui, Willekers Sven, Oostveen Yara Y., Chocron Sonja, Postma Alex V., Bhuiyan Zahurul A., Bakkers Jeroen A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function Human mutation 2016;37 (2):194-200 [PubMed]
  • Bouma Berto J., Postma Alex V. Editorial Commentary: Looking beyond the heart in adult congenital heart disease Trends in cardiovascular medicine 2016;26 (7):637-638 [PubMed]
  • Postma Alex V., Bezzina Connie R., Christoffels Vincent M. Genetics of congenital heart disease: the contribution of the noncoding regulatory genome Journal of human genetics 2016;61 (1):13-19 [PubMed]

2015

  • Barnett Phil, Postma Alex V. Genetics of congenital heart disease: Beyond half-measures Trends in cardiovascular medicine 2015;25 (4):302-304 [PubMed]

2014

  • Mohan Rajiv A., van Engelen Klaartje, Stefanovic Sonia, Barnett Phil, Ilgun Aho, Baars Marieke J. H., Bouma Berto J., Mulder Barbara J. M., Christoffels Vincent M., Postma Alex V. A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects American journal of medical genetics. Part A 2014;164AA (11):2732-2738 [PubMed]
  • van Engelen Klaartje, Bartelings Margot M., Gittenberger-de Groot Adriana C., Baars Marieke J. H., Postma Alex V., Bijlsma Emilia K., Mulder Barbara J. M., Jongbloed Monique R. M. Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study Fetal diagnosis and therapy 2014;36 (1):59-68 [PubMed]
  • Milano Annalisa, Vermeer Alexa M. C., Lodder Elisabeth M., Barc Julien, Verkerk Arie O., Postma Alex V., van der Bilt Ivo A. C., Baars Marieke J. H., van Haelst Paul L., Caliskan Kadir, Hoedemaekers Yvonne M., Le Scouarnec Solena, Redon Richard, Pinto Yigal M., Christiaans Imke, Wilde Arthur A., Bezzina Connie R. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy Journal of the American College of Cardiology 2014;64 (8):745-756 [PubMed]
  • Postma A. V., Alders M., Sylva M., Bilardo C. M., Pajkrt E., van Rijn R. R., Schulte-Merker S., Bulk S., Stefanovic S., Ilgun A., Barnett P., Mannens M. M. A. M., Moorman A. F. M., Oostra R. J., van Maarle M. C. Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal Journal of medical genetics 2014;51 (2):90-97 [PubMed]

2013

  • van de Meerakker Judith B. A., Christiaans Imke, Barnett Phil, Lekanne Deprez Ronald H., Ilgun Aho, Mook Olaf R. F., Mannens Marcel M. A. M., Lam Jan, Wilde Arthur A. M., Moorman Antoon F. M., Postma Alex V. A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 2013;1833 (4):833-839 [PubMed]
  • Mamasoula Chrysovalanto, Prentice R. Reid, Pierscionek Tomasz, Pangilinan Faith, Mills James L., Druschel Charlotte, Pass Kenneth, Russell Mark W., Hall Darroch, Töpf Ana, Brown Danielle L., Zelenika Diana, Bentham Jamie, Cosgrove Catherine, Bhattacharya Shoumo, Riveron Javier Granados, Setchfield Kerry, Brook J. David, Bu'lock Frances A., Thornborough Chris, Rahman Thahira J., Doza Julian Palomino, Tan Huay L., O'Sullivan John, Stuart A. Graham, Blue Gillian, Winlaw David, Postma Alex V., Mulder Barbara J. M., Zwinderman Aelko H., van Engelen Klaartje, Moorman Antoon F. M., Rauch Anita, Gewillig Marc, Breckpot Jeroen, Devriendt Koen, Lathrop G. Mark, Farrall Martin, Goodship Judith A., Cordell Heather J., Brody Lawrence C., Keavney Bernard D. Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls Circulation. Cardiovascular genetics 2013;6 (4):347-353 [PubMed]
  • Vermeer Alexa M. C., van Engelen Klaartje, Postma Alex V., Baars Marieke J. H., Christiaans Imke, de Haij Simone, Klaassen Sabine, Mulder Barbara J. M., Keavney Bernard Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7 American journal of medical genetics. Part C, Seminars in medical genetics 2013;163 (3):178-184 [PubMed]
  • van Engelen K., Postma A. V., van de Meerakker J. B. A., Roos-Hesselink J. W., Helderman-van den Enden A. T. J. M., Vliegen H. W., Rahman T., Baars M. J. H., Sels J.-W., Bauer U., Pickardt T., Sperling S. R., Moorman A. F. M., Keavney B., Goodship J., Klaassen S., Mulder B. J. M. Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7 Netherlands heart journal 2013;21 (3):113-117 [PubMed]
  • van Engelen Klaartje Genetics and inheritance issues in congenital heart disease 2013. 213p. ISBN 9789090278827. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Mulder B. J. M.; Co-supervisors: Baars M. J. H., Postma A. V.)
  • Cordell Heather J., Töpf Ana, Mamasoula Chrysovalanto, Postma Alex V., Bentham Jamie, Zelenika Diana, Heath Simon, Blue Gillian, Cosgrove Catherine, Granados Riveron Javier, Darlay Rebecca, Soemedi Rachel, Wilson Ian J., Ayers Kristin L., Rahman Thahira J., Hall Darroch, Mulder Barbara J. M., Zwinderman Aelko H., van Engelen Klaartje, Brook J. David, Setchfield Kerry, Bu'lock Frances A., Thornborough Chris, O'Sullivan John, Stuart A. Graham, Parsons Jonathan, Bhattacharya Shoumo, Winlaw David, Mital Seema, Gewillig Marc, Breckpot Jeroen, Devriendt Koen, Moorman Antoon F. M., Rauch Anita, Lathrop G. Mark, Keavney Bernard D., Goodship Judith A. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot Human molecular genetics 2013;22 (7):1473-1481 [PubMed]
  • Cordell Heather J., Bentham Jamie, Topf Ana, Zelenika Diana, Heath Simon, Mamasoula Chrysovalanto, Cosgrove Catherine, Blue Gillian, Granados-Riveron Javier, Setchfield Kerry, Thornborough Chris, Breckpot Jeroen, Soemedi Rachel, Martin Ruairidh, Rahman Thahira J., Hall Darroch, van Engelen Klaartje, Moorman Antoon F. M., Zwinderman Aelko H., Barnett Phil, Koopmann Tamara T., Adriaens Michiel E., Varro Andras, George Alfred L., Dos Remedios Christobal, Bishopric Nanette H., Bezzina Connie R., O'Sullivan John, Gewillig Marc, Bu'lock Frances A., Winlaw David, Bhattacharya Shoumo, Devriendt Koen, Brook J. David, Mulder Barbara J. M., Mital Seema, Postma Alex V., Lathrop G. Mark, Farrall Martin, Goodship Judith A., Keavney Bernard D. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 Nature genetics 2013;45 (7):822-824 [PubMed]
  • de Laat Monique W. M., Pieper Petronella G., Oudijk Martijn A., Mulder Barbara J. M., Christoffels Vincent M., Afink Gijs B., Postma Alex V., Ris-Stalpers Carrie The clinical and molecular relations between idiopathic preterm labor and maternal congenital heart defects Reproductive sciences (Thousand Oaks, Calif.) 2013;20 (2):190-201 [PubMed]
  • van Engelen Klaartje, Baars Marieke J. H., Felix Joyce P., Postma Alex V., Mulder Barbara J. M., Smets Ellen M. A. The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective American journal of medical genetics. Part A 2013;161AA (7):1628-1637 [PubMed]

2012

  • Casini Simona, Postma Alex V. Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome Cardiovascular research 2012;93 (4):535-536 [PubMed]
  • Jensen Bjarke, Boukens Bastiaan J. D., Postma Alex V., Gunst Quinn D., van den Hoff Maurice J. B., Moorman Antoon F. M., Wang Tobias, Christoffels Vincent M. Identifying the Evolutionary Building Blocks of the Cardiac Conduction System PLoS ONE 2012;7 (9):e44231 [PubMed]
  • van Engelen Klaartje, Mommersteeg Mathilda T. M., Baars Marieke J. H., Lam Jan, Ilgun Aho, van Trotsenburg A. S. Paul, Smets Anne M. J. B., Christoffels Vincent M., Mulder Barbara J. M., Postma Alex V. The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis PLoS ONE 2012;7 (12):e52685 [PubMed]

2011

  • Marsman Roos F., Bardai Abdennasser, Postma Alex V., Res Jan C. J., Koopmann Tamara T., Beekman Leander, van der Wal Allard C., Pinto Yigal M., Lekanne Deprez Ronald H., Wilde Arthur A. M., Jordaens Luc J., Bezzina Connie R. A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death Circulation. Cardiovascular genetics 2011;4 (3):280-287 [PubMed]
  • van de Meerakker Judith B. A., van Engelen Klaartje, Mathijssen Inge B., Lekanne dit Deprez Ronald H., Lam Jan, Wilde Arthur A. M., Baars Marieke J. H., Mannens Marcel M. A. M., Mulder Barbara J. M., Moorman Antoon F. M., Postma Alex V. A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q European journal of human genetics 2011;19 (7):820-826 [PubMed]
  • Postma Alex V., Christoffels Vincent M., Bezzina Connie R. Developmental aspects of cardiac arrhythmogenesis Cardiovascular research 2011;91 (2):243-251 [PubMed]
  • Boogerd Cornelis J. J., Dooijes Dennis, Ilgun Aho, Mathijssen Inge B., Hordijk Roel, van de Laar Ingrid M. B. H., Rump Patrick, Veenstra-Knol Hermine E., Moorman Antoon F. M., Barnett Phil, Postma Alex V. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome (vol 88, pg 130, 2010) Cardiovascular research 2011;89 (1):253
  • Postma Alex V., van Engelen Klaartje, van de Meerakker Judith, Rahman Thahira, Probst Susanne, Baars Marieke J. H., Bauer Ulrike, Pickardt Thomas, Sperling Silke R., Berger Felix, Moorman Antoon F. M., Mulder Barbara J. M., Thierfelder Ludwig, Keavney Bernard, Goodship Judith, Klaassen Sabine Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly Circulation. Cardiovascular genetics 2011;4 (1):43-50 [PubMed]
  • van Engelen Klaartje, Baars Marieke J. H., Postma Alex V., Mulder Barbara J. M. Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot Reply Heart (British Cardiac Society) 2011;97 (10):860 [PubMed]

2010

  • van Engelen Klaartje, Topf Ana, Keavney Bernard D., Goodship Judith A., van der Velde Enno T., Baars Marieke J. H., Snijder Simone, Moorman Antoon F., Postma Alex V., Mulder Barbara J. M. 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia Heart (British Cardiac Society) 2010;96 (8):621-624 [PubMed]
  • Boogerd Cornelis J. J., Dooijes Dennis, Ilgun Aho, Hordijk Roel, van de Laar Ingrid M. B. H., Rump Patrick, Veenstra-Knol Hermine E., Moorman Antoon F. M., Barnett Phil, Postma Alex V. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome Cardiovascular research 2010;88 (1):130-139 [PubMed]
  • Thienpont Bernard, Zhang Litu, Postma Alex V., Breckpot Jeroen, Tranchevent Léon-Charles, van Loo Peter, Møllgård Kjeld, Tommerup Niels, Bache Iben, Tümer Zeynep, van Engelen Klaartje, Menten Björn, Mortier Geert, Waggoner Darrel, Gewillig Marc, Moreau Yves, Devriendt Koen, Larsen Lars Allan Haploinsufficiency of TAB2 causes congenital heart defects in humans American journal of human genetics 2010;86 (6):839-849 [PubMed]
  • Kirchhefer Uwe, Wehrmeister Diana, Postma Alex V., Pohlentz Gottfried, Mormann Michael, Kucerova Dana, Müller Frank U., Schmitz Wilhelm, Schulze-Bahr Eric, Wilde Arthur A., Neumann Joachim The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling Journal of molecular and cellular cardiology 2010;49 (1):95-105 [PubMed]

2009

  • Postma Alex V., Dekker Lukas R. C., Soufan Alexandre T., Moorman Antoon F. M. Developmental and genetic aspects of atrial fibrillation Trends in cardiovascular medicine 2009;19 (4):123-130 [PubMed]
  • van Engelen Klaartje, Merks Johannes H. M., Lam Jan, Kremer Leontien C. M., Backes Manouk, Baars Marieke J. H., van der Pal Heleen J. H., Postma Alex V., Versteeg Rogier, Caron Huib N., Mulder Barbara J. M. Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature European journal of pediatrics 2009;168 (9):1081-1090 [PubMed]

2008

  • de la Fuente Sam, van Langen Irene M., Postma Alex V., Bikker Henni, Meijer Albert A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations Pacing and clinical electrophysiology 2008;31 (7):916-919 [PubMed]
  • Postma Alex V., van de Meerakker Judith B. A., Mathijssen Inge B., Barnett Phil, Christoffels Vincent M., Ilgun Aho, Lam Jan, Wilde Arthur A. M., Lekanne Deprez Ronald H., Moorman Antoon F. M. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation Circulation research 2008;102 (11):1433-1442 [PubMed]
  • Postma A. V., Christoffels V. M., Moorman A. F. M. Developmental aspects of the electrophysiology of the heart: function follows formin: Ihor Gussak, Charles Antzelevitch, Arthur A. M. Wilde, Paul A. Friedman, Michael J. Ackerman, Win-Kuang Shen, editors. Electrical diseases of the heart. Genetics, mechanisms, treatment, prevention.. London: Springer; 2008. p. 24-36, ISBN 9781846288531

2007

  • Bhuiyan Zahurul A., Hamdan Mohamed A., Shamsi Eman T. A., Postma Alex V., Mannens Marcel M. A. M., Wilde Arthur A. M., Al-Gazali Lihadh A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22 Journal of cardiovascular electrophysiology 2007;18 (10):1060-1066 [PubMed]
  • Bhuiyan Zahurul A., van den Berg Maarten P., van Tintelen J. Peter, Bink-Boelkens Margreet T. E., Wiesfeld Ans C. P., Alders Marielle, Postma Alex V., van Langen Irene, Mannens Marcel M. A. M., Wilde Arthur A. M. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features Circulation 2007;116 (14):1569-1576 [PubMed]

2006

  • van den Hoff Maurice J. B., Postma Alex V., Michel Martin C. Candidate genes for the hereditary component of cardiac hypertrophy Journal of hypertension 2006;24 (2):273-277 [PubMed]
  • Postma Alex V., Bhuiyan Zahurul A., Bikker Hennie Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing Methods in molecular medicine 2006;126:171-183 [PubMed]

2005

  • Postma A. V., van Aalderen W. M. C. Astmain: R. G. van Wijk, M. H. J. Vaessen, editors. Het allergie formularium. Een praktische leidraad. Houten: Bohn Stafleu Van Loghum Healthcare Communications; 2005. p. 61-ev
  • Postma A. V., Denjoy I., Kamblock J., Alders M., Lupoglazoff J.-M., Vaksmann G., Dubosq-Bidot L., Sebillon P., Mannens M. M. A. M., Guicheney P., Wilde A. A. M. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients Journal of medical genetics 2005;42 (11):863-870 [PubMed]
  • Barnett Phil, Postma Alex V. Molecular Genetics of Holt–Oram Syndromein: N. N., editors. Encyclopedia of life sciences (eLS). Chichester: John Wiley & Sons Ltd; 2005. p. 10.1002/9780470015902.a0024329
  • Denjoy I., Postma A. V., Lupoglazoff J. M., Vaksman G., Kamblock J., Leenhardt A., Wilde A. A., Guicheney P. Tachycardies ventriculaires catécholergiques chez l'enfant Archives des maladies du coeur et des vaisseaux 2005;98 (5):506-512 [PubMed]

2003

  • Postma A. V. Genetics aspects of cardiac arrythmia syndromes 2003. 162p. ISBN 9789090170916. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wilde A. A. M.; Co-supervisors: Moorman A. F. M., Mannens M. M. A. M.)

2002

  • Postma Alex V., Denjoy Isabelle, Hoorntje Theo M., Lupoglazoff Jean-Marc, Da Costa Antoine, Sebillon Pascale, Mannens Marcel M. A. M., Wilde Arthur A. M., Guicheney Pascale Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia Circulation research 2002;91 (8):E21-E26 [PubMed]
  • Postma A. V., Wilde A. A. M. Catecholaminergic polymorphic ventricular tachycardia: A reviewin: M. J. Schalij, M. J. Janse, A. T. Oosterom, H. J. J. Wellens, E. E. van der Wall, editors. Einthoven 2002: 100 years of electrocardiography. Leiden: The Einthoven Foundation; 2002. p. 505-513

2000

  • Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3 Human genetics 2000;106 (6):614-619 [PubMed]

1999

  • Bezzina C., Veldkamp M. W., van den Berg M. P., Postma A. V., Rook M. B., Viersma J. W., van Langen I. M., Tan-Sindhunata G., Bink-Boelkens M. T., van der Hout A. H., Mannens M. M., Wilde A. A. A single Na(+) channel mutation causing both long-QT and Brugada syndromes Circulation research 1999;85 (12):1206-1213 [PubMed]

Corona-maatregelen

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