• Principal Investigator
  • Male

Prof. dr. A.A.B. Bergen

Position: Professor
Main activities: Research
Specialisation: Complex genetics of ophthalmic disorders
foto A.A.B. Bergen is one of the AMC Principal Investigators
Focus of research:

The focus of my group is to elucidate the complex genetics of ophthalmogenetic disorders and to develop rational, genomics-driven diagnostics and therapies

AMC themes: Neurological & Psychiatric Disorders, Reproduction and development
Departments: Clinical Genetics
Bennis A, Jacobs JG, Catsburg LAE, ten Brink JB, Koster C, Schlingemann RO, van Meurs J, Gorgels TGMF, Moerland PD, Heine VM, Bergen AA, Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium. STEM CELL REV REP 2017;13 (5):659-669 [PubMed]
Bennis A, ten Brink JB, Moerland PD, Heine VM, Bergen AA, Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium. PLOS ONE 2017;12 (8):e0182983 [PubMed]
Bergen AA, Nicotinamide, iRPE-in-a dish, and age-related macular degeneration therapy development. STEM CELL INVESTIG 2017;4:81 [PubMed]
Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW [Contributors: Ajana S, Arango-Gonzalez B, Arndt V, Bhatia V, Bhattacharya SS, Biarnés M, Borrell A, Bühren S, Calado SM, Colijn JM, Cougnard-Grégoire A, Dammeier S, de Jong EK, de la Cerda B, Delcourt C, den Hollander AI, Diaz-Corrales FJ, Diether S, Emri E, Endermann T, Ferraro LL, Garcia M, Heesterbeek TJ, Honisch S, Hoyng CB, Kersten E, Kilger E, Klaver CCW, Langen H, Lengyel I, Luthert P, Maugeais C, Meester-Smoor M, Merle BMJ, Monés J, Nogoceke E, Peto T, Pool FM, Rodríguez E, Ueffing M, Ulrich Bartz-Schmidt KU, van Leeuwen EM, Verzijden T, Zumbansen M, Acar N, Anastosopoulos E, Azuara-Blanco A, Bergen A , Bertelsen G, Binquet C, Bird A, Brétillon L, Bron A, Buitendijk G, Cachulo ML, Chakravarthy U, Chan M, Chang P, Colijn J, Creuzot-Garcher C, Cumberland P, Cunha-Vaz J, Daien V, Deak G, Delyfer MN, den Hollander A, Dietzel M, Erke MG, Fauser S, Finger R, Fletcher A, Foster P, Founti P, Göbel A, Gorgels T, Grauslund J, Grus F, Hammond C, Helmer C, Hense HW, Hermann M, Hoehn R, Hogg R, Holz F, Hoyng C, Jansonius N, Janssen S, Khawaja A, Klaver C, Korobelnik JF, Lamparter J, Le Goff M, Leal S, Lechanteur Y, Lehtimäki T, Lotery A, Leung I, Mauschitz M, Merle B, Meyer Zu Westrup V, Midena E, Miotto S, Mirshahi A, Mohan-Saïd S, Mueller M, Muldrew A, Nunes S, Oexle K, Piermarocchi S, Prokofyeva E, Rahi J, Raitakari O, Ribeiro L, Rougier MB, Sahel J, Salonikiou A, Sanchez C, Schmitz-Valckenberg S, Schweitzer C, Segato T, Shehata J, Silva R, Silvestri G, Simader C, Souied E, Springelkamp H, Tapp R, Topouzis F, Verhoeven V, Von Hanno T, Vujosevic S, Williams K, Wolfram C, Yip J, Zerbib J, Zwiener I]] , Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future. OPHTHALMOLOGY 2017;ahead of print [PubMed]
Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A, Kamermans M , Ingeborgh van den Born L, Klaver CCW [Contributors: van Huet RA, Klevering BJ, Bax NM, Lambertus S, Klaver CCW, Hoyng CB, Oomen CJ, van Zelst-Stams WA, Cremers FP, Plomp AS, van Schooneveld MJ, van Genderen MM, Schuil J, Boonstra FN, Schlingemann RO, Bergen AA, Pierrache L, Meester-Smoor M, van den Born LI, Boon CJ, Pott JWR, van Leeuwen R, Kroes HY, de Jong-Hesse Y]] , Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. AM J OPHTHALMOL 2017;182:81-89 [PubMed]
Mathijssen IB, Florijn RJ, van den Born LI, Zekveld-Vroon RC, ten Brink JB, Plomp AS, Baas F, Meijers-Heijboer H, Bergen AAB, van Schooneveld MJ, LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. RETINA-J RET VIT DIS 2017;37 (1):161-172 [PubMed]
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF, Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. OPHTHALMOLOGY 2017;124 (6):884-895 [PubMed]
van Schuppen SM, Talib M, Bergen AA, ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ, LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. RETINA-J RET VIT DIS 2017;ahead of print [PubMed]
Delcourt C, Korobelnik JF, Buitendijk GHS, Foster PJ, Hammond CJ, Piermarocchi S, Peto T, Jansonius N, Mirshahi A, Hogg RE, Bretillon L, Topouzis F, Deak G, Grauslund J, Broe R, Souied EH, Creuzot-Garcher C, Sahel J, Daien V, Lehtimäki T, Hense HW, Prokofyeva E, Oexle K, Rahi JS, Cumberland PM, Schmitz-Valckenberg S, Fauser S, Bertelsen G, Hoyng C, Bergen A , Silva R, Wolf S, Lotery A, Chakravarthy U, Fletcher A, Klaver CCW, Ophthalmic epidemiology in Europe: the "European Eye Epidemiology" (E3) consortium. EUR J EPIDEMIOL 2016;31 (2):197-210 [PubMed]
Khawaja AP, Springelkamp H, Creuzot-Garcher C, Delcourt C, Hofman A, Höhn R, Iglesias AI, Wolfs RCW, Korobelnik JF, Silva R, Topouzis F, Williams KM, Bron AM, Buitendijk GHS, Cachulo MdL, Cougnard-Grégoire A, Dartigues JF, Hammond CJ, Pfeiffer N, Salonikiou A, van Duijn CM, Vingerling JR, Luben RN, Mirshahi A, Lamparter J, Klaver CCW, Jansonius NM, Foster PJ [Contributors: Acar N, Anastosopoulos E, Azuara-Blanco A, Bergen A , Bertelsen G, Binquet C, Bird A, Brétillon L, Bron A, Buitendijk G, Cachulo ML, Chakravarthy U, Chan M, Chang P, Colijn A, Cougnard-Grégoire A, Creuzot-Garcher C, Cumberland P, Cunha-Vaz J, Daien V, Deak G, Delcourt C, Delyfer MN, Hollander Ad, Dietzel M, Erke MG, Fauser S, Finger R, Fletcher A, Foster P, Founti P, Göbel A, Gorgels T, Grauslund J, Grus F, Hammond C, Helmer C, Hense HW, Hermann M, Hoehn R, Hogg R, Holz F, Hoyng C, Jansonius N, Janssen S, Khawaja A, Klaver C, Korobelnik JF, Lamparter J, Le Goff M, Leal S, Lechanteur Y, Lehtimäki T, Lotery A, Leung I, Mauschitz M, Merle B, Meyer Zu Westrup V, Midena E, Miotto S, Mirshahi A, Mohan-Saïd S, Muldrew A, Mueller M, Nunes S, Oexle K, Peto T, Piermarocchi S, Prokofyeva E, Rahi J, Raitakari O, Ribeiro L, Rougier MB, Sahel J, Salonikiou A, Sanchez C, Schmitz-Valckenberg S, Schweitzer C, Segato T, Shehata J, Silva R, Silvestri G, Simader C, Souied E, Springelkamp H, Tapp R, Topouzis F, Verhoeven V, Von Hanno T, Vujosevic S, Williams K, Wolfram C, Yip J, Zerbib J, Zwiener I]] , Associations with intraocular pressure across Europe: The European Eye Epidemiology (E-3) Consortium. EUR J EPIDEMIOL 2016;31 (11):1101-1111 [PubMed]
Pierrache LHM, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FPM, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CWRJ, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJE, van den Born LI, Klaver CCW, Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. OPHTHALMOLOGY 2016;123 (5):1151-1160 [PubMed]
van Dijk EHC, Duits DEM, Versluis M, Luyten GPM, Bergen AAB, Kapiteijn EW, de Lange MJ, Boon CJF, van der Velden PA, Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients. MEDICINE 2016;95 (18):e3457 [PubMed]
Bennis A, Gorgels TGMF, ten Brink JB, van der Spek PJ, Bossers K, Heine VM, Bergen AA, Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular Degeneration. PLOS ONE 2015;10 (10):e0141597 [PubMed]
Bergen AA, Kaing S, ten Brink JB, Gorgels TG, Janssen SF, Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease. BMC GENOMICS 2015;16 (1):956 [PubMed]
Boon CJF, van den Born LI, Keunen JEE, Bergen AAB, Riemslag FC, Florijn RJ, van Schooneveld MJ, Correspondence. RETINA-J RET VIT DIS 2015;35 (9):e57-e58 [PubMed]
Janssen SF, Jansonius NM, Bouwman F, Verbraak FD, Bergen AA, Systematic review of the association between Alzheimer's disease and chronic glaucoma. CLIN OPHTHALMOL 2015;9:783-784 [PubMed]
Marton J, Albert D, Wiltshire SA, Park R, Bergen A , Qureshi S, Malo D, Burelle Y, Vidal SM, Cyclosporine A Treatment Inhibits Abcc6-Dependent Cardiac Necrosis and Calcification following Coxsackievirus B3 Infection in Mice. PLOS ONE 2015;10 (9):e0138222 [PubMed]
Brampton C, Aherrahrou Z, Chen LH, Martin L, Bergen AAB, Gorgels TGMF, Erdfdi J, Schunkert H, Szabó Z, Váradi A, Le Saux O, The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury. AM J PATHOL 2014;184 (1):159-170 [PubMed]
Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, Plomp A, Bergen AA, Oude Elferink RPJ, Borst P, van de Wetering K, ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report. ARTERIOSCL THROM VAS 2014;34 (9):1985-1989 [PubMed]
Janssen SF. Molecular mechanisms underlying primary open angle glaucoma. S.l.: s.n.; 2014. 277p. ISBN 9789053359365 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam, onderzoek bij Netherlands Institute for Neuroscience Amsterdam, Depratment of Clinical and Molecular Ophthalmogenetics. (Promotor(s): Bergen AAB, Jansonius NM; copromotor(s): Gorgels TGMF)
Janssen SF, Bennis A, Heine VM, Bergen AAB, Human ciliary epithelia do express genes with retinal progenitor cell characteristics in vivo. EXP EYE RES 2014;121:41 [PubMed]
Janssen SF, Gorgels TGMF, Ramdas WD, Klaver CCW, van Duijn CM, Jansonius NM, Bergen AAB, Alzheimer's disease and glaucoma-reply. PROG RETIN EYE RES 2014;39:108-110 [PubMed]
Janssen SF, Gorgels TGMF, ten Brink JB, Jansonius NM, Bergen AAB, Gene expression-based comparison of the human secretory neuroepithelia of the brain choroid plexus and the ocular ciliary body: potential implications for glaucoma. FLUIDS BARRIERS CNS 2014;11 (1):2 [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]
Kauffenstein G, Pizard A, Le Corre Y, Vessières E, Grimaud L, Toutain B, Labat C, Mauras Y, Gorgels TG, Bergen AA, Le Saux O, Lacolley P, Lefthériotis G, Henrion D, Martin L, Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum. ARTERIOSCL THROM VAS 2014;34 (5):1045-1056 [PubMed]
Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JNC, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJM, Hauser MA, Loon SC, Despriet DDG, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LME, Rivadeneira F, Souzeau E, Jonsson V, Menon G, Weinreb RN, de Jong PTVM, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, Spector TD, Mirshahi A, Saw SM, Vingerling JR, teo YY, Haines JL, Wolfs RCW, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CCW, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AAB, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ [Contributors: Mitchell P, Wang JJ, Rochtchina E, Attia J, Scott R, Holliday EG, Wong TY, Baird PN, Xie J, Inouye M, Viswanathan A, Sim X, Allingham RR, Brilliant MH, Budenz DL, Bailey JNC, Christen WG, Fingert J, Friedman DS, Gaasterland D, Gaasterland T, Haines JL, Hauser MA, Kang JH, Kraft P, Lee RK, Lichter PR, Liu Y, Loomis SJ, Moroi SE, Pasquale LR, Pericak-Vance MA, Realini A, Richards JE, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wiggs JL, Wollstein G, Zack DJ, Zhang K, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CCA, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Strange A, Su Z, Vukcevic D, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P]] , Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. NAT COMMUN 2014;5:4883 [PubMed]
van Huet RAC, Oomen CJ, Plomp AS, van Genderen MM, Klevering BJ, Schlingemann RO, Klaver CCW, van den Born LI, Cremers FPM [Contributors: Bax NM, Hoyng CB, van Zelst-Stams WA, Bergen AAB, Schuil J, van Schooneveld MJ, Pierrache L, Meester-Smoor MA, Boon CJF, Pott JWR, van Leeuwen R, Kroes HY, Boonstra FN]] , The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases. INVEST OPHTH VIS SCI 2014;55 (11):7355-7360 [PubMed]
Bijveld MMC, Florijn RJ, Bergen AAB, van den Born LI, Kamermans M , Prick L, Riemslag FCC, van Schooneveld MJ, Kappers AML, van Genderen MM, Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. OPHTHALMOLOGY 2013;120 (10):2072-2081 [PubMed]
Boon CJF, van den Born LI, Visser L, Keunen JEE, Bergen AAB, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ, Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. OPHTHALMOLOGY 2013;120 (4):809-820 [PubMed]
Jansen RS, Küçükosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IEM, Bergen AAB, Gorgels TGMF, Borst P, van de Wetering K, ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. P NATL ACAD SCI USA 2013;110 (50):20206-20211 [PubMed]
Janssen SF, Gorgels TGMF, Ramdas WD, Klaver CCW, van Duijn CM, Jansonius NM, Bergen AAB, The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. PROG RETIN EYE RES 2013;37:31-67 [PubMed]
Janssen SF, Gorgels TGMF, van der Spek PJ, Jansonius NM, Bergen AAB, In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucoma. J CLIN BIOINFORMA 2013;3 (1):21 [PubMed]
Janssen SF, van der Spek SJF, ten Brink JB, Essing AHW, Gorgels TGMF, van der Spek PJ, Jansonius NM, Bergen AAB, Gene expression and functional annotation of the human and mouse choroid plexus epithelium. PLOS ONE 2013;8 (12):e83345 [PubMed]
Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FCC, Bergen AAB, Gregg RG, Peachey NS, Kamermans M, Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. INVEST OPHTH VIS SCI 2013;54 (10):6973-6981 [PubMed]
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A , Chen R, Cremers FPM, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM, Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype. PLOS ONE 2013;8 (1):e51622 [PubMed]
Prunier F, Terrien G, Le Corre Y, Apana ALY, Bière L, Kauffenstein G, Furber A, Bergen AAB, Gorgels TGMF, Le Saux O, Leftheriotis G, Martin L, Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model. PLOS ONE 2013;8 (7):e68700 [PubMed]
Ramos de Carvalho JE, Klaassen I, Vogels IMC, Schipper-Krom S, van Noorden CJF, Reits E, Gorgels TGMF, Bergen AAB, Schlingemann RO, Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration. INVEST OPHTH VIS SCI 2013;54 (10):6489-6501 [PubMed]
Reis A, Mateus C, Viegas T, Florijn R, Bergen A , Silva E, Castelo-Branco M, Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level. GRAEF ARCH CLIN EXP 2013;251 (1):221-234 [PubMed]
Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ [Contributors: Rahi JS, Hysi PG, Yoshimura N, Yamashiro K, Miyake M, Delcourt C, Maubaret C, Williams C, Guggenheim JA, Northstone K, Ring SM, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Igo RP Jr, Chew E, Janmahasathian S, Stambolian D, Wilson JEB, Macgregor S, Lu Y, Jonas JB, Xu L, Baird PN, Rochtchina E, Mitchell P, Wang JJ, Nangia V, Hayward C, Wright AF, Vitart V, Polasek O, Campbell H, Rudan I, Vatavuk Z, Paterson AD, Hosseini SM, Fondran JR, Young TL, Feng S, Verhoeven VJM, Klaver CC, van Duijn CM, Metspalu A, Haller T, Mihailov E, Pärssinen O, Wilson JWJEB, Wojciechowski R, Schache M, Pfeiffer N, Höhn R, Pang CP, Chen P, Meitinger T, Oexle K, Wegner A, Miyak M, Yip SP, Ho DWH, Pirastu M, Murgia F, Portas L, Biino G, Wilson JF, Fleck B, Hewitt AW, Ang W, Zhou X, Ikram MK, Fan Q, Mackey MKDA, Hammond CJ, Deangelis MM, Morrison M, Zhou X, Chen W, Mizuki N, Meguro A, Raitakari O, Kähönen M, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CCA, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Strange A, Su Z, Vukcevic D, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Genuth S, Nathan DM, Zinman B, Crofford O, Crandall J, Reid M, Engel S, Sheindlin J, Martinez H, Shamoon H, Engel H, Phillips M, Mayer L, Pendegast S, Zegarra H, Miller D, Singerman L, Novak M, Quin J, Dahms W, Genuth S, Palmert M, Brillon D, Lackaye ME, Kiss S, Chan R, Reppucci V, Lee T, Heinemann M, Whitehouse F, Kruger D, Jones JK, McLellan M, Carey JD, Angus E, Thomas A, Galprin A, Bergenstal R, Johnson M, Spencer M, Morgan K, Aiello LP, Golden E, Jacobson A, Beaser R, Ganda O, Hamdy O, Wolpert H, Sharuk G, Arrigg P, Schlossman D, Rosenzwieg J, Larkin M, Ong M, Godine J, Cagliero E, Lou P, Folino K, Fritz S, Crowell S, Hansen K, Ziegler G, Luttrell L, Caulder S, Colwell J, Soule J, Fernandes J, Hermayer K, Kwon S, Brabham M, Blevins A, Parker J, Lee D, Patel N, Pittman C, Lindsey P, Bracey M, Lee K, Nutaitis M, Farr A, Thompson T, Selby J, Lyons T, Szpiech M, Mayfield R, Molitch M, Schaefer B, Jampol L, Lyon A, Gill M, Strugula Z, Kaminski L, Mirza R, Simjanoski E, Ryan D, Kolterman O, Lorenzi G, Goldbaum M, Sivitz W, Bayless M, Johnsonbaugh S, Hebdon M, Salemi P, Liss R, Donner T, Gordon J, Hemady R, Kowarski A, Ostrowski D, Steidl S, Jones B, Herman WH, Martin CL, Sarma A, Albers J, Feldman E, Kim K, Elner S, Comer G, Gardner T, Hackel R, Prusak R, Goings L, Smith A, Gothrup J, Titus P, Lee J, Brandle M, Prosser L, Greene DA, Stevens MJ, Bantle J, Wimmergren N, Cochrane A, Olsen T, Steuer E, Rath P, Rogness B, Hainsworth D, Goldstein D, Hitt S, Giangiacomo J, Canady JL, Chapin JE, Braunstein S, Bourne PA, Schwartz S, Brucker A, Baker L, Lass J, Reinhart W, Belin MW, Schultze RL, Morason T, Sugar A, Mian S, Soong KH, Colby K, Yee R, Vital M, Alfonso E, Karp C, Lee Y, Yoo S, Hammersmith K, Cohen E, Laibson P, Rapuano C, Ayres B, Croasdale C, Caudill J, Patel S, Baratz K, Bourne W, Maguire L, Sugar J, Tu E, Djalilian A, Mootha V, McCulley J, Bowman W, Cavanaugh HD, Verity S, Verdier D, Renucci A, Oliva M, Rotkis W, Hardten DR, Fahmy A, Brown M, Reeves S, Davis EA, Lindstrom R, Hauswirth S, Hamilton S, Lee WB, Price F, Price M, Kelly K, Peters F, Shaughnessy M, Steinemann T, Dupps BJ, Meisler DM, Mifflin M, Olson R, Aldave A, Holland G, Mondino BJ, Rosenwasser G, Gorovoy M, Dunn SP, Heidemann DG, Terry M, Shamie N, Rosenfeld SI, Suedekum B, Hwang D, Stone D, Chodosh J, Galentine PG, Bardenstein D, Goddard K, Chin H, Mannis M, Varma R, Borecki I, Davey-Smith G, Saw SM, Wong TY, teo YY, Cheng CY, Lehtimäki T, Mäkelä KM, Brown-Friday J, Gubitosi-Klug R, Smith-Brewer S, Etzwiler D, Rand L, Gauthier-Kelly C, Service J, Lopes-Virella M, Elsing S, Yacoub-Wasef S, Wood D, Counts D, Pop-Busui R, Vine AK, Schade DS, Ketai C LH, Maschak-Carey BJ, Jurkunas U]] , Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. NAT GENET 2013;45 (3):314-318 [PubMed]
Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ, Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. NAT GENET 2013;45 (6):712 [PubMed]
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A , Tsang SH, Jacobson SG, Yannuzzi LA, Expanded clinical spectrum of enhanced S-cone syndrome. JAMA OPHTHALMOL 2013;131 (10):1324-1330 [PubMed]
Baas DC. Genetic studies of age-related macular degeneration. s.l.: s.n.; 2012. 269p. ISBN 9789090271590 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bergen AAB; copromotor(s): Gorgels TGMF)
Baas DC, Ho L, Tanck MWT, Fritsche LG, Merriam JE, van Het Slot R, Koeleman BPC, Gorgels TGMF, van Duijn CM, Uitterlinden AG, de Jong PTVM, Hofman A, ten Brink JB, Vingerling JR, Klaver CCW, Dean M, Weber BHF, Allikmets R, Hageman GS, Bergen AAB, Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. MOL VIS 2012;18 (72):657-674 [PubMed]
Gorgels TGMF, Teeling P, Meeldijk JD, Nillesen STM, van der Wal AC, van Kuppevelt TH, Bergen AAB, Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane. EXP EYE RES 2012;104:59-64 [PubMed]
Janssen SF, Gorgels TGMF, Bossers K, ten Brink JB, Essing AHW, Nagtegaal M, van der Spek PJ, Jansonius NM, Bergen AAB, Gene Expression and Functional Annotation of the Human Ciliary Body Epithelia. PLOS ONE 2012;7 (9):e44973 [PubMed]
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AFX, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AAB, Kamermans M , Gregg RG, GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness. AM J HUM GENET 2012;90 (2):331-339 [PubMed]
Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JRW, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KEH, Zareparsi S, Bergen AA, Klaver CCW, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BHF, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PTVM, Smeeth L, Fletcher A, Hingorani AD, Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. INT J EPIDEMIOL 2012;41 (1):250-262 [PubMed]
Thiadens AAHJ, Phan TML, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CCW, Roosing S, Pott JWR, Schooneveld MJv, Moll-Ramirez Nv, Genderen MMv, Boon CJF, Hollander AId, Bergen AAB, Baere ED, Cremers FPM, Lotery AJ, Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy. OPHTHALMOLOGY 2012;119 (4):819-826 [PubMed]
van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, Viswanathan AC, ten Brink JB, Hosseini SM, Amin N, Despriet DDG, Willemse-Assink JJM, Kramer R, Rivadeneira F, Struchalin M, Aulchenko YS, Weisschuh N, Zenkel M, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young TL, Bellenguez C, McGuffin P, Foster PJ, Topouzis F, Mitchell P, Wang JJ, Wong TY, Czudowska MA, Hofman A, Uitterlinden AG, Wolfs RCW, de Jong PTVM, Oostra BA, Paterson AD, Mackey DA, Bergen AAB, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CCW, van Duijn CM [Contributors: Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CCA, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Strange A, Su Z, Vukcevic D, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, McCarthy MI]] , Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma. PLOS GENET 2012;8 (5):e1002611 [PubMed]
Verhagen JMA, Huijmans JG, Williams M, van Ruyven RLJ, Bergen AAB, Wouters CH, Brooks AS, Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. AM J MED GENET A 2012;158A (11):2931-2934 [PubMed]
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CCW, van Schooneveld M, Bergen AAB, Florijn RJ, Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. OPHTHALMOLOGY 2011;118 (1):160-U268 [PubMed]
Gorgels TGMF, Waarsing JH, Herfs M, Versteeg D, Schoensiegel F, Sato T, Schlingemann RO, Ivandic B, Vermeer C, Schurgers LJ, Bergen AAB, Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J MOL MED-JMM 2011;89 (11):1125-1135 [PubMed]
Kaimbo DKW, Mutosh A, Leys A, Parys-van Ginderdeuren R, Bergen AAB, Pseudoxanthoma elasticum: clinical, histologic, and genetic studies--a report of two sisters. SKINMED 2011;9 (2):119-121 [PubMed]
Klooster J, Blokker J, ten Brink JB, Unmehopa U, Fluiter K, Bergen AAB, Kamermans M, Ultrastructural localization and expression of TRPM1 in the human retina. INVEST OPHTH VIS SCI 2011;52 (11):8356-8362 [PubMed]
Mungrue IN, Zhao P, Yao Y, Meng H, Rau C, Havel JV, Gorgels TGMF, Bergen AAB, Maclellan WR, Drake TA, Boström KI, Lusis AJ, Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model. ARTERIOSCL THROM VAS 2011;31 (12):2806-2812 [PubMed]
Ramdas WD, van Koolwijk LME, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, ten Brink J, Amin N, Rivadeneira F, Wolfs RCW, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RHC, Hofman A, de Jong PTVM, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüßen UC, Kirwan JF, Bergen AAB, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CCW, van Duijn CM, Common genetic variants associated with open-angle glaucoma. HUM MOL GENET 2011;20 (12):2464-2471 [PubMed]
Thiadens AAHJ, Soerjoesing GG , Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AAB, Klaver CCW, Clinical course of cone dystrophy caused by mutations in the RPGR gene. GRAEF ARCH CLIN EXP 2011;249 (10):1527-1535 [PubMed]
Baas DC, Despriet DD, Gorgels TGMF, Bergeron-Sawitzke J, Uitterlinden AG, Hofman A, van Duijn CM, Merriam JE, Smith RT, Barile GR, ten Brink JB, Vingerling JR, Klaver CCW, Allikmets R, Dean M, Bergen AAB, The ERCC6 Gene and Age-Related Macular Degeneration. PLOS ONE 2010;5 (11):e13786 [PubMed]
Baas DC, Ho L, Ennis S, Merriam JE, Tanck MWT, Uitterlinden AG, de Jong PTVM, Cree AJ, Griffiths HL, Rivadeneira F, Hofman A, van Duijn C, Smith RT, Barile GR, Gorgels TGMF, Vingerling JR, Klaver CCW, Lotery AJ, Allikmets R, Bergen AAB, The Complement Component 5 Gene and Age-Related Macular Degeneration. OPHTHALMOLOGY 2010;117 (3):500-511 [PubMed]
Booij JC. Function and pathology of the human retinal pigment epithelium. s.l.: s.n.; 2010. 239p. ISBN 9789053352939 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bergen AAB; copromotor(s): )
Booij JC, Baas DC, Beisekeeva J, Gorgels TGMF, Bergen AAB, The dynamic nature of Bruch's membrane. PROG RETIN EYE RES 2010;29 (1):1-18 [PubMed]
Booij JC, Boon CJF, van Schooneveld MJ, Brink JBT, Bakker A, Jong PTVMd, Hoyng CB, Bergen AAB, Klaver CCW, Course of Visual Decline in Relation to the Best1 Genotype in Vitelliform Macular Dystrophy. OPHTHALMOLOGY 2010;117 (7):1415-1422 [PubMed]
Booij JC, ten Brink JB, Swagemakers SMA, Verkerk AJMH, Essing AHW, van der Spek PJ, Bergen AAB, A new strategy to identify and annotate human RPE-specific gene expression. PLOS ONE 2010;5 (3):e9341 [PubMed]
Gorgels TGMF, Waarsing JH, de Wolf A, ten Brink JB, Loves WJP, Bergen AAB, Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum. J MOL MED-JMM 2010;88 (5):467-475 [PubMed]
Plomp AS, Toonstra J, Bergen AAB, van Dijk MR, de Jong PTVM, Proposal for Updating the Pseudoxanthoma Elasticum Classification System and a Review of the Clinical Findings. AM J MED GENET A 2010;152A (4):1049-1058 [PubMed]
Ramdas WD, van Koolwijk LME, Ikram MK, Jansonius NM, de Jong PTVM, Bergen AAB, Isaacs A, Amin N, Aulchenko YS, Wolfs RCW, Hofman A, Rivadeneira F, Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemij HG, Vingerling JR, Klaver CCW, van Duijn CM, A Genome-Wide Association Study of Optic Disc Parameters. PLOS GENET 2010;6 (6):e1000978 [PubMed]
Solouki AM, Verhoeven VJM, van Duijn CM, Verkerk AJMH, Ikram MK, Hysi PG, Despriet DDG, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RWAM, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FCC, Young TL, Mackey DA, Spector TD, Gorgels TGMF, Willemse-Assink JJM, Isaacs A, Kramer R, Swagemakers SMA, Bergen AAB, van Oosterhout AALJ, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PTVM, Hammond CJ, Vingerling JR, Klaver CCW, A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. NAT GENET 2010;42 (10):897-+ [PubMed]
Allikmets R, Bergen AA, Dean M, Guymer RH, Hageman GS, Klaver CC, Stefansson K, Weber BH, Geographic atrophy in age-related macular degeneration and TLR3. NEW ENGL J MED 2009;360 (21):2252-4; author reply 2255-6 [PubMed]
Allikmets R, Dean M, Hageman GS, Baird PN, Klaver CC, Bergen AA, Weber BH, The SERPING1 gene and age-related macular degeneration. LANCET 2009;374 (9693):875-876 [PubMed]
Booij JC, van Soest S, Swagemakers SMA, Essing AHW, Verkerk AJMH, van der Spek PJ, Gorgels TGMF, Bergen AAB, Functional annotation of the human retinal pigment epithelium transcriptome. BMC GENOMICS 2009;10 (1):164 [PubMed]
Despriet DDG, van Duijn CM, Oostra BA, Uitterlinden AG, Hofman A, Wright AF, ten Brink JB, Bakker A, de Jong PTVM, Vingerling JR, Bergen AAB, Klaver CCW, Complement component C3 and risk of age-related macular degeneration. OPHTHALMOLOGY 2009;116 (3):474-480.e2 [PubMed]
Plomp AS. Clinical and genetic aspects of pseudoxanthoma elasticum. s.l.: s.n.; 2009. 191p. ISBN 9789090242545 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): de Jong PTVM, Bergen AAB; copromotor(s): )
Plomp AS, Bergen AAB, Florijn RJ, Terry SF, Toonstra J, van Dijk MR, de Jong PTVM, Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. GENET MED 2009;11 (12):852-858 [PubMed]
Simonsz HJ, Florijn RJ, van Minderhout HM, Bergen AAB, Kamermans M, Nightblindness-Associated Transient Tonic Downgaze (NATTD) in Infant Boys with Chin-Up Head Posture. STRABISMUS 2009;17 (4):158-164 [PubMed]
van Genderen MM, Bijveld MMC, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FCC, Gregg RG, Bergen AAB, Kamermans M, Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness. AM J HUM GENET 2009;85 (5):730-736 [PubMed]
Despriet DDG, Bergen AAB, Merriam JE, Zernant J, Barile GR, Smith RT, Barbazetto IA, van Soest S, Bakker A, de Jong PTVM, Allikmets R, Klaver CCW, Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration. INVEST OPHTH VIS SCI 2008;49 (1):364-371 [PubMed]
Klaver CCW, Bergen AAB, The SERPING1 gene and age-related macular degeneration. LANCET 2008;372 (9652):1788-1789 [PubMed]
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FPM, Bergen AAB, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nuernberg G, Nuernberg P, Bolz HJ, Gal A, Berger W, Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. MOL VIS 2008;14 (129):1081-1093 [PubMed]
Plomp AS, Florijn RJ, ten Brink J, Castle B, Kingston H, Martin-Santiago A, Gorgels TGMF, de Jong PTVM, Bergen AAB, ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones. MOL VIS 2008;14 (15):118-124 [PubMed]
Redeker EJW, de Visser ASH, Bergen AAB, Mannens MMAM, Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. MOL VIS 2008;14 (97-99):836-840 [PubMed]
Bergen AAB, Plomp AS, Hu X, de Jong PTVM, Gorgels TGMF, ABCC6 and pseudoxanthoma elasticum. PFLUG ARCH EUR J PHY 2007;453 (5):685-691 [PubMed]
Dijk F, Bergen AAB, Kamphuis W, GAP-43 expression is upregulated in retinal ganglion cells after ischemia/reperfusion-induced damage. EXP EYE RES 2007;84 (5):858-867 [PubMed]
Gorgels TGMF, van der Pluijm I, Brandt RMC, Garinis GA, van Steeg H, van den Aardweg G, Jansen GH, Ruijter JM, Bergen AAB, van Norren D, Hoeijmakers JHJ, van der Horst GTJ, Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. MOL CELL BIOL 2007;27 (4):1433-1441 [PubMed]
Kamphuis W, Dijk F, Bergen AAB, Ischemic preconditioning alters the pattern of gene expression changes in response to full retinal ischemia. MOL VIS 2007;13:1892-1901 [PubMed]
Kamphuis W, Dijk F, Kraan W, Bergen AAB, Transfer of lens-specific transcripts to retinal RNA samples may underlie observed changes in crystallin-gene transcript levels after ischemia. MOL VIS 2007;13:220-228 [PubMed]
Kamphuis W, Dijk F, van Soest S, Bergen AAB, Global gene expression profiling of ischemic preconditioning in the rat retina. MOL VIS 2007;13:1020-1030 [PubMed]
van Soest SS, de Wit GMJ, Essing AHW, ten Brink JB, Kamphuis W, de Jong PTVM, Bergen AAB, Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane. MOL VIS 2007;13 (179-82):1608-1617 [PubMed]
Bergen AAB, Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. J INVEST DERMATOL 2006;126 (4):704-705 [PubMed]
Brinkmann JFF, Ottenheim CPE, Zegers RHC, de Jong PTVM, Bergen AAB, Gene symbol: CYP1B1. Disease: Glaucoma, primary congenital. Accession #Hd0513. HUM GENET 2006;118 (6):775 [PubMed]
Brinkmann JFF, Ottenheim CPE, Zegers RHC, de Jong PTVM, Bergen AAB, Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541. HUM GENET 2006;118 (6):779 [PubMed]
Despriet DDG, Klaver CCW, Witteman JCM, Bergen AAB, Kardys I, de Maat MPM, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, van Duijn CM, de Jong PTVM, Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA-J AM MED ASSOC 2006;296 (3):301-309 [PubMed]
Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJJM, Mannens MMAM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AAB, New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. EUR J HUM GENET 2006;14 (9):986-990 [PubMed]
Kardys I, Klaver CCW, Despriet DDG, Bergen AAB, Uitterlinden AG, Hofman A, Oostra BA, van Duijn CM, de Jong PTVM, Witteman JCM, A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. J AM COLL CARDIOL 2006;47 (8):1568-1575 [PubMed]
Lotery AJ, Baas D, Ridley C, Jones RPO, Klaver CCW, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AAB, Trump D, Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. HUM MUTAT 2006;27 (6):568-574 [PubMed]
Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PTVM, Bergen AAB, Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J MED GENET 2005;42 (11):e67--- [PubMed]
Brinkman JFF, Ottenheim CPE, de Jong LAMS, Zegers RHC, de Smet MD, de Jong PTVM, Bergen AAB, VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma. MOL VIS 2005;11 (68):582-586 [PubMed]
Gorgels TGMF, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PTVM, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJP, Scheper RJ, Peek R, Bergen AAB, Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. HUM MOL GENET 2005;14 (13):1763-1773 [PubMed]
Kamphuis W, Cailotto C, Dijk F, Bergen A , Buijs RM, Circadian expression of clock genes and clock-controlled genes in the rat retina. BIOCHEM BIOPH RES CO 2005;330 (1):18-26 [PubMed]
Wegman JJ, Hu X, Tan H, Bergen AAB, Trip MD, Kastelein JJP, Smulders YM, Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. INT J CARDIOL 2005;100 (3):389-393 [PubMed]
Bergen AAB, Leschot NJ, Hulsman CAA, de Smet MD, de Jong PTVM, Van gen naar ziekte; primair openkamerhoekglaucoom en 3 bekende genen: MYOC, CYP1B1 en OPTN. NED TIJDSCHR GENEESKD 2004;148 (27):1343-ev [PubMed]
Bergen AAB, Plomp AS, Gorgels TGMF, de Jong PTVM, Van gen naar ziekte; pseudoxanthoma elasticum en het ABCC6-gen. NED TIJDSCHR GENEESKD 2004;148 (32):1586-1589 [PubMed]
Hayashi M, Merriam JE, Klaver CCW, Zernant J, Bergen AA, Smith RT, Chang S, Merriam JC, Allikmets R, Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. OPHTHALMIC GENET 2004;25 (2):111-119 [PubMed]
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PTVM, Bergen AAB, Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. GENET TEST 2004;8 (3):292-300 [PubMed]
Kornet L, Bergen AAB, Hoeks APG, Cleutjens JP, Oostra RJ, Daemen MJ, van Soest S, Reneman RS, In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation. ULTRASOUND MED BIOL 2004;30 (8):1041-1048 [PubMed]
Plomp AS, Hu X, de Jong PTVM, Bergen AAB, Does autosomal dominant pseudoxanthoma elasticum exist?. AM J MED GENET A 2004;126A (4):403-412 [PubMed]
Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, van Soest S, Leys A, de Jong PTVM, Bergen AAB, Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. INVEST OPHTH VIS SCI 2003;44 (5):1824-1829 [PubMed]
Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PTVM, Bergen AAB, Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update. SURV OPHTHALMOL 2003;48 (4):424-438 [PubMed]
Hu X, Plomp A, Wijnholds J, ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PTVM, Bergen AAB, ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. EUR J HUM GENET 2003;11 (3):215-224 [PubMed]
Sinkó E, Iliás A, Ujhelly O, Homolya L, Scheffer GL, Bergen AAB, Sarkadi B, Váradi A, Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. BIOCHEM BIOPH RES CO 2003;308 (2):263-269 [PubMed]
van Lith-Verhoeven JJC, van den Helm B, Deutman AF, Bergen AAB, Cremers FPM, Hoyng CB, de Jong PTVM, A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. ARCH OPHTHALMOL-CHIC 2003;121 (10):1452-1457 [PubMed]
Hulsman CAA, de Jong PTVM, Lettink M, van Duijn CM, Hofman A, Bergen AAB, Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study. GRAEF ARCH CLIN EXP 2002;240 (6):468-474 [PubMed]
Hulsman CAA, Willemse-Assink JJM, de Jong PTVM, Lettink M, Sandkuijl LA, Bergen AAB, Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population. CLIN GENET 2002;61 (2):160-162 [PubMed]
Plomp AS, Bergen AAB, Hulsman CAA, de Jong PTVM, Veranderende visie op erfelijke oogaandoeningen. NED TIJDSCHR GENEESKD 2002;146 (8):345-350 [PubMed]
Scheffer GL, Hu X, Pijnenborg ACLM, Wijnholds J, Bergen AAB, Scheper RJ, MRP6 (ABCC6) detection in normal human tissues and tumors. LAB INVEST 2002;82 (4):515-518 [PubMed]
Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JMA, ten Brink JB, Zwinderman AH, Kastelein JJP, Feskens EJM, Bergen AAB, Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. CIRCULATION 2002;106 (7):773-775 [PubMed]
Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV, Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. HUM GENET 2001;108 (1):51-54 [PubMed]
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT, A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. HUM GENET 2001;108 (2):91-97 [PubMed]
de Jong PT, Bergen AA, Klaver CC, van Duijn CM, Assink JM, Age-related maculopathy: its genetic basis. EYE 2001;15 (Part 3):396-400 [PubMed]
Assink JJ, de Backer E, ten Brink JB, Kohno T, de Jong PT, Bergen AA, Meire F, Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. BRIT J OPHTHALMOL 2000;84 (7):682-686 [PubMed]
Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG, Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. NAT GENET 2000;26 (3):319-323 [PubMed]
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT, Mutations in ABCC6 cause pseudoxanthoma elasticum. NAT GENET 2000;25 (2):228-231 [PubMed]
Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C, The mutation spectrum of the bestrophin protein--functional implications. HUM GENET 1999;104 (5):383-389 [PubMed]
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA, Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). NAT GENET 1999;23 (2):217-221 [PubMed]
Dry KL, Manson FD, Lennon A, Bergen AA, van Dorp DB, Wright AF, Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). HUM MUTAT 1999;13 (2):141-145 [PubMed]
Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD, Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. GENOMICS 1999;62 (1):1-10 [PubMed]
Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP, The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. AM J HUM GENET 1999;64 (4):1024-1035 [PubMed]
van Soest S, van Rossem MJ, Heckenlively JR, van den Born LI, de Meulemeester TM, Vliex S, de Jong PT, Bleeker-Wagemakers EM, Westerveld A, Bergen AA, Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes. CYTOGENET CELL GENET 1999;84 (1-2):22-27 [PubMed]
van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA, Retinitis pigmentosa: defined from a molecular point of view. SURV OPHTHALMOL 1999;43 (4):321-334 [PubMed]
Bergen AA, Pinckers AJ, Reply to Inglehearn. AM J HUM GENET 1998;63 (4):1232-1234 [PubMed]
Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB, Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. HUM MOL GENET 1998;7 (3):355-362 [PubMed]
Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C, Identification of the gene responsible for Best macular dystrophy. NAT GENET 1998;19 (3):241-247 [PubMed]
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W, Positional cloning of the gene for X-linked retinitis pigmentosa 2. NAT GENET 1998;19 (4):327-332 [PubMed]
Tijmes NT, Bergen AAB, de Jong PT, Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. BRIT J OPHTHALMOL 1998;82 (4):457-458 [PubMed]
van de Vosse E, Walpole SM, Nicolaou A, van der Bent P, Cahn A, Vaudin M, Ross MT, Durham J, Pavitt R, Wilkinson J, Grafham D, Bergen AA, van Ommen GJ, Yates JR, den Dunnen JT, Trump D, Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. GENOMICS 1998;49 (1):96-102 [PubMed]
Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA, A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. AM J HUM GENET 1997;61 (4):934-939 [PubMed]
Bergen AA, Pinckers AJ, Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. AM J HUM GENET 1997;60 (6):1468-1473 [PubMed]
van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA, Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. HUM GENET 1997;101 (2):235-237 [PubMed]
van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AA, A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. GENOME RES 1997;7 (8):830-834 [PubMed]
Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT, Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. J MED GENET 1996;33 (10):869-872 [PubMed]
Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W, Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. HUM MOL GENET 1996;5 (7):1035-1041 [PubMed]
van de Vosse E, Bergen AA, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker B, Weissenbach J, Coffey AJ, van Ommen GJ, den Dunnen JT, An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. EUR J HUM GENET 1996;4 (2):101-104 [PubMed]
van Soest S, te Nijenhuis S, van den Born LI, Bleeker-Wagemakers EM, Sharp E, Sandkuijl LA, Westerveld A, Bergen AA, Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). CYTOGENET CELL GENET 1996;73 (1-2):81-85 [PubMed]
Bassi MT, Schiaffino MV, Renieri A, de Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A, Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. NAT GENET 1995;10 (1):13-19 [PubMed]
Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N, Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. HUM MOL GENET 1995;4 (5):931-935 [PubMed]
Bergen AA, ten Brink JB, van Schooneveld MJ, Efficient DNA carrier detection in X linked juvenile retinoschisis. BRIT J OPHTHALMOL 1995;79 (7):683-686 [PubMed]
Bergen AA, van den Born LI, Schuurman EJ, Pinckers AJ, van Ommen GJ, Bleekers-Wagemakers EM, Sandkuijl LA, Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families. OPHTHALMIC GENET 1995;16 (2):63-70 [PubMed]
Houwing-Duistermaat JJ, Sandkuijl LA, Bergen AA, van Houwelingen HC, Maximum-likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm. GENET EPIDEMIOL 1995;12 (5):515-527 [PubMed]
Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, de Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. HUM MOL GENET 1995;4 (12):2319-2325 [PubMed]
Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A, A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). HUM MOL GENET 1994;3 (4):647-648 [PubMed]
Bergen AA, Kestelyn P, Leys M, Meire F, Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. J MED GENET 1994;31 (7):580-582 [PubMed]
Bergen AA, Meire F, Schuurman EJ, Delleman JW, DNA carrier detection in X-linked progressive cone dystrophy. CLIN GENET 1994;45 (5):236-240 [PubMed]
Bergen AA, ten Brink JB, Bleeker-Wagemakers LM, van Schooneveld MJ, Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. J MED GENET 1994;31 (12):972-975 [PubMed]
Bergen AA, ten Brink J, Schuurman EJ, Bleeker-Wagemakers EM, Nance-Horan syndrome: linkage analysis in a family from The Netherlands. GENOMICS 1994;21 (1):238-240 [PubMed]
Meire FM, Bergen AA, de Rouck A, Leys M, Delleman JW, X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis. BRIT J OPHTHALMOL 1994;78 (2):103-108 [PubMed]
van Soest S, van den Born LI, Gal A, Farrar GJ, Bleeker-Wagemakers LM, Westerveld A, Humphries P, Sandkuijl LA, Bergen AA, Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. GENOMICS 1994;22 (3):499-504 [PubMed]
Bergen AA, Meire F, ten Brink J, Schuurman EJ, van Ommen GJ, Delleman JW, Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. GENOMICS 1993;18 (2):463-464 [PubMed]
Bergen AA, van Schooneveld MJ, Orth U, Bleeker-Wagemakers EM, Gal A, Multipoint linkage analysis in X-linked juvenile retinoschisis. CLIN GENET 1993;43 (3):113-116 [PubMed]
Bergen AA, Wapenaar MC, Schuurman EJ, Diergaarde PJ, Lerach H, Monaco AP, Bakker E, Bleeker-Wagemakers EM, van Ommen GJ, Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning. CYTOGENET CELL GENET 1993;62 (4):231-235 [PubMed]
Bergen AA, Zijp P, Schuurman EJ, Bleeker-Wagemakers EM, Apkarian P, van Ommen GJ, Refinement of the localization of the X-linked ocular albinism gene. GENOMICS 1993;16 (1):272-273 [PubMed]
Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM, Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis. CLIN GENET 1992;41 (3):135-138 [PubMed]
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburgh M, Isolation of a candidate gene for Norrie disease by positional cloning. NAT GENET 1992;2 (1):84 [PubMed]
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M, Isolation of a candidate gene for Norrie disease by positional cloning. NAT GENET 1992;1 (3):199-203 [PubMed]
Bleeker-Wagemakers LM, Gal A, Kumar-Singh R, van den Born LI, Li Y, Schwinger E, Sandkuijl LA, Bergen AA, Kenna P, Humphries P, Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa. GENOMICS 1992;14 (3):811-812 [PubMed]
van den Born LI, Bergen AA, Bleeker-Wagemakers EM, A retrospective study of registered retinitis pigmentosa patients in The Netherlands. OPHTHALMIC PAEDIATR GENET 1992;13 (4):227-236 [PubMed]
Bergen AA, Platje EJ, Craig I, Bakker E, Bleeker-Wagemakers EM, van Ommen GJ, Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity. OPHTHALMIC PAEDIATR GENET 1991;12 (2):99-103 [PubMed]
Bergen AA, Samanns C, Schuurman EJ, van Osch L, van Dorp DB, Pinckers AJ, Bakker E, Gal A, van Ommen GJ, Bleeker-Wagemakers EM, Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. HUM GENET 1991;88 (2):162-166 [PubMed]
Bergen AA, Samanns C, van Dorp DB, Ferguson-Smith MA, Gal A, Bleeker-Wagemakers EM, Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. OPHTHALMIC PAEDIATR GENET 1990;11 (3):165-170 [PubMed]
Arveiler B, Hofker MH, Bergen AA, Mandel JL, A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12. NUCLEIC ACIDS RES 1987;15 (14):5903 [PubMed]
Hofker MH, Bergen AA, Skraastad MI, Carpenter NJ, Veenema H, Connor JM, Bakker E, van Ommen GJ, Pearson PL, Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. AM J HUM GENET 1987;40 (4):312-328 [PubMed]
Hofker MH, Bergen AA, Skraastad MI, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen GJ, Pearson PL, Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy. HUM GENET 1986;74 (3):275-279 [PubMed]
Hofker MH, Skraastad MI, Bergen AA, Wapenaar MC, Bakker E, Millington-Ward A, van Ommen GJ, Pearson PL, The X chromosome shows less genetic variation at restriction sites than the autosomes. AM J HUM GENET 1986;39 (4):438-451 [PubMed]
Key publications

Janssen SF, Gorgels TGMF, Ramdas WD, Klaver CCW, van Duijn CM, Jansonius NM, Bergen AAB, The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology. PROG RETIN EYE RES 2013;37:31-67 [PubMed]
Gorgels TGMF, Waarsing JH, Herfs M, Versteeg D, Schoensiegel F, Sato T, Schlingemann RO, Ivandic B, Vermeer C, Schurgers LJ, Bergen AAB, Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum. J MOL MED-JMM 2011;89 (11):1125-1135 [PubMed]
Bergen AA, Kaing S, ten Brink JB, Gorgels TG, Janssen SF, Gene expression and functional annotation of human choroid plexus epithelium failure in Alzheimer's disease. BMC GENOMICS 2015;16 (1):956 [PubMed]
Janssen SF, van der Spek SJF, ten Brink JB, Essing AHW, Gorgels TGMF, van der Spek PJ, Jansonius NM, Bergen AAB, Gene expression and functional annotation of the human and mouse choroid plexus epithelium. PLOS ONE 2013;8 (12):e83345 [PubMed]
Booij JC, Baas DC, Beisekeeva J, Gorgels TGMF, Bergen AAB, The dynamic nature of Bruch's membrane. PROG RETIN EYE RES 2010;29 (1):1-18 [PubMed]


All Publications

Research programmes

Molecular etiology of complex genetic retinal disorders

The aim of my group is to elucidate the molecular pathology of genetic retinal disorders. In the past, we successfully identified retinal disease genes (RP12, PXE and others), brought at least one disease (PXE) from gene mapping, gene identification, mouse model, functional characterisation toward now ongoing clinical trials, and made innovative molecular models for retinitis pigmentosa, age-related macular degeneration (ZonMW pearl prize) and glaucoma. 

We currently focus on diseases of the retinal pigment epithelium (RPE; age-related macular degeneration, retinitis pigmentosa) and ganglion cells (glaucoma).We have made reliable molecular models for these diseases, and we are now applying these to develop genomics-directed personalized medicine, advanced molecular diagnostics, and/or therapies. Depending on the research question, we use(d) a variety of methodologies and technologies, including human, mouse and zebrafish genetics, genomics, bioinformatics and functional assays.

After I came to the AMC in 2014, we set up, largely externally financed, IPS-stem-cell-to-RPE-differentiation cultures (retina's in a dish) and a brand-new, non- invasive, visual screening facility for small animal models. This facility includes SLO, OCT and ERG apparatus and technology. Together, the new stem cell cultures and visual screening facility greatly enhance our possibilities to study retinal disorders in vitro and in vivo, and paves the way for the development of experimental cell and gene therapies of genetic eye disorders. Indeed, we recently injected our IPS stem cell derived RPE cells successfully subretinally in suitable animal models for age-related macular degeneration, as a first step toward high quality experimental therapy. Our new visual screening facility for small animal models has also stirred up quite some collaborative interest form researchers working on (visual aspects of) genetic metabolic diseases, AMC), neurodegenerative disease (Alzheimer, MS) and the retinoblastoma expertise center (VUMC, NKI). The results of our work are further enhanced by a multitude of national and international collaborations.


 

Faculty
Prof. dr. A.A.B. Bergen (previously: NIN)

Postdocs
Dr. ir. A.L.M.A. ten Asbroek
Dr. R.J. Florijn
Dr. G. Hajmousa
Dr. S. Micheal
Dr. Z. Sahin

PhD Students
U. Bagchi
Drs. A. Bennis
C. Koster
N. Milicevic
P.E. Wagstaff MSc
Drs. S. Kaing (NKI)
Drs. V.L. Lo Faro (UMCG)
Drs. S.T. Shumet (DOCTOR)
Drs. M. Talib (LUMC)

Others
J. ten Brink

Other research related activities
  • Membership of editorial board / Editorship, MOLECULAR VISION
  • Membership of medical or scientific committee, Retina Nederlland, Advisory committee
  • Membership of medical or scientific committee, Retina International, Advisory board
Current research funding
  • AMC
  • Europese Unie
  • MaculaFonds
  • Nederlands Herseninstituut
  • Rotterdamse Stichting Blindenbelangen
  • UitZicht
  • ZonMw