Selection Bergen publications (out of > 120)

Koolwijk L et al (2012) Common Genetic Determinants of Intra-ocular Pressure and Primary open angle Glaucoma  PLoS Genetics. In press 

 

Peachey N, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Kenkichi B, Tosini G, Posdeyev N, Luvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, vand Genderen M van, Birch DG, Traboulsi EI, Dorfmann A, Lopez I, Ren H, Goldberg AFX, NIshina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG (2012) GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal recessive complete congenital stationary nightblindness. Am J Hum Genet Feb 2012; 90:1-9 [PDF]

 

Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM. Commom gentic variants associated with Primary open angle Glaucoma. Hum Mol Genet. 2011 Jun 15;20(12):2464-71 [PDF]

 

Baas DC, DD Despriet, TGMF Gorgels, J Bergeron-Sawitzke, AG Uiterlinden, A Hofman, CM van Duijn, JE Merriam, RT Smith, GR Barile, JB ten Brink, JR Vingerling, CCW KLaver, R Allikmets, M Dean, AAB Bergen (2010) The ERCC6 gene and age-related macular degeneration. PLoS ONE 5(11): e13786 [PDF]

 

Solouki AM, Verhoeven VJM, van Duijn CM, Verkerk JMH, Ikram MK, Hysi PG, Despriet DG, van Koolwijk LM, Ho L, Ramdas WD, Czudowoska, 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, AALJ van Oosterhout, Oostra BA, Rivadeneira F, Uiterlindden AG, Hofman A, de Jong PTVM, Hammond CJ, Vingerling JR, Klaver CCW (2010) A Genome-wide association study identifies a suspectibility locus for refractive errors and myopia at 15q14. Nature Genetics: Oct; 42(10):897-901. Epub 12 september 2010 [PDF]

 

Judith C. Booij, Jacoline B. ten Brink, Sigrid M. Swagemakers, Annemieke J. Verkerk, Anke H. Essing, Peter J. van der Spek, Arthur A.B. Bergen (2010) A New Strategy to Identify and Annotate Human RPE-specific Gene Expression. PLoS ONE: Epub March 9 2010 [PDF]

 

Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld MJ, Bergen AA,  Florijn RJ (2010) Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300 kb resequencing chip. Ophthalmology. Epub 27 augustus 2010 [PDF]

 

Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, Hofman A, Rivadeniera F, Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemeij HG, Vingerling JR, Klaver CC, van Duijn CM (2010) A genome-wide association study of optic disk parameters. PLoS Genet 2010, Jun 10; 6 (6): e1000987 [PDF]

 

TGMF Gorgels, JH Waarsing, JB ten Brink, WP Loves, AAB Bergen (2010) Dietary magnesium, not calcium prevents vascular calcification in a mouse model for Pseudoxanthoma elasticum. J Mol Med May; 88(5):467-75. Epub 2010 Feb 23 [PDF][Comment]

 

Judith C. Booij, Dominique C. Baas, Juldyz Beisekeeva, Theo GMF Gorgels, Arthur AB Bergen (2010) The Dynamic Nature of Bruch's Membrane. Prog Ret Eye Res. (Jan) 29 (1):1:18. Epub 2009 Sep 10 [PDF]

 

Mies M. van Genderen, Mieke M.C. Bijveld, Yvonne B. Claassen, Ralph J. Florijn, Jilian N. Pearring, Francoise M. Meire, Maureen A. McCall, Frans C.C. Riemslag, Ronald G. Gregg, Arthur A.B. Bergen, Maarten Kamermans (2009) Mutations in TRPM1 are a common cause of Complete Congenital Stationary Nightblindness. Am J Hum Genet 85, 1-7 [PDF] [Comment]

 

Baas DC, Ho L, Ennis S, Merriam JE, Tanck MWT, Uitterlinden AG, de Jong TVM, Cree , Griffiths HL, Rivadeneira F, Hofman A, van Duijn C, Smith RT, Barile GR, Gorgels TGMF, Vingerling JR, Klaver CCW, Lotery AJ, Allikmets RA, and Bergen AAB (2009) The Complement Component 5 gene and Age-related Macular Degeneration. Ophthalmology. Dec 18 [Epub] [PDF]

 

Allikmets A, Dean M, Hageman GS, Baird PN, Klaver CC, Bergen AA, Weber BH & the international AMD genetics consortium. The SERPING1 gene and age-related macular degeneration. Lancet 374: 875-876; sept 12, 2009 (Letter) [PDF]

 

Allikmets R, Bergen AAB, Dean M, Guymer RH, Hageman GS, Klaver CC, Stefansson K, Weber BH and the International Age-related Macular Degeneration Genetics Consortium (2009) Geographic atrophy in age-related macular degeneration and TLR3. New Engl J Med. 21:2252-4 (Letter) [PDF]

 

Booij JC, van Soest S, Swagemakers SM, Essing AH, Verkerk AJ, van der Spek PJ, Gorgels TG, Bergen AA (2009) Functional Annotation of the Human Retinal Pigment Epithelium Transcriptome. BMC Genomics 10(1):164 [PDF

 

Dominiek D.G. Despriet, Cornelia M. van Duijn, Ben A. Oostra, Andre G Uitterlinden, Albert Hofman, Alan F. Wright, Jacoline B ten Brink, Arne Bakker, Paulus T.V.M. de Jong,, Johannes R. Vingerling, Arthur A.B. Bergen, Caroline C.W. Klaver. (2009) Complement component C3 and Risk of Age-related Macular Degeneration. Ophthalmology   116 (3): 474-480 [PDF]

 

Klaver CC and Bergen AA (2008) SerpinG1 gene and age-related macular degeneration. The Lancet. 372:1788-1789 [PDF

 

van Soest S, de Wit GJM, Essing AHW, ten Brink JB, Kamphuis W, de jong PT, Bergen AA (2007) Comparison of human RPE gene expression in macula and periphery highlights potential topographic differences in Bruch’s membrane Mol. Vis. 13:1608-1617 [PDF]

 

Gorgels TGMF, van der Pluijm I, Brandt RM, Garinis GA, van Steeg H, van den Aardweg G, Jansen GH, Ruijter JM, Bergen AA, van Norren D, Hoeijmakers JH, van der Horst GT. (2007) Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol Cell Biol Feb;27(4):1433-41 [PDF]

 

Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, de Maat MP, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, van Duijn CM, de Jong PT (2006)Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. Jul 19;296(3):301-9 [PDF]

 

Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D. (2006) Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat. 2006 Jun;27(6):568-74 [PDF]

  

TGMF Gorgels, X Hu, GL Scheffer, AC van der Wal., J Toonstra, PTVM. de Jong, TH van Kuppevelt, CN Levelt, A de Wolf, WJP Loves, RJ Scheper, R Peek and AAB Bergen (2005) Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005 Jul 1;14(13):1763-73 [PDF]

 

Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, van Soest S, Leys A, de Jong, PTVM, Bergen AAB (2003) Analysis of the frequent R1141X mutation in the ABCC6 gene in Pseudoxanthoma elasticum. Investigative Ophthalmology and Visual Science IOVS. 2003 May;44(5):1824-9 [PDF]

 

Mieke D Tripp, Yvo M Smulders, Xiaofeng Hu, Jolanda MA Boer, Jacoline B ten Brink, Aeilko H Zwinderman, John JP Kastelein Feskens EJM, Arthur AB Bergen (2002) A frequent mutation in the ABCC6 gene is associated with a strong increase in the prevalence of coronary artery disease. Circulation  Aug 13;106(7):773-5 [PDF]

 

Allikmets R, and the International ABCR Screening Consortium (2000) Further evidence for an association of ABCR alleles with Age-Related Macular Degeneration. Am J Hum Genet 67:487-491 [PDF]

 

Bergen AAB, AS Plomp, EJ Schuurman, S. Terry, Breuning MH, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PTVM (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nature Genetics 25: 228-232 [PDF]

 

Bech-Hansen T, Naylor M, Maybaum TA, Sparkes RL, Koop B, Birch D, Jacobson SG, Bergen AAB, Prinsen CFM, Polemeno RC, Gal A, Drack AV, Musarella MA, Young RSL, Weleber RG (2000) Mutations in the gene for a novel leucine rich protein, nyctalopin, cause complete congenital stationary night blindness. Nature Genetics Vol 26 no. 3 pp 319 - 323 [PDF]

 

van Soest S, Westerveld A, de Jong PT, Bleeker‑Wagemakers EM, Bergen AAB (1999) Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol Jan‑Feb;43(4):321‑34 [PDF]

 

Hollander AI den, ten Brink JB, de Kok Y, van Soest S, van den Born LI, van Driel M, van der Pol DJR, Kellner U, Hoying C, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FPM, Bergen AAB (1999) Mutations in a homologue of Drosophila crumbs cause retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium (RP12). Nature Genetics. Oct;23(2):217-21 [PDF]

 

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AAB, McGarty Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C (1998) Identification of the gene responsible for Best macular dystrophy. Nature Genetics Jul;19(3):241-7

 

Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AAB, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W (1998) Positional cloning of the gene for X linked retinitis pigmentosa 2. Nature Genetics 19(4):327 32

 

Klaver CW, Assink J, Bergen AAB, van Duijn C (1998) ABCR mutations and AMD. Science 279:5354/1107a

 

Bassi MT, Schiaffino MV, Reieri A, de Nigris F, Galli, L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A (1995) Cloning of the gene for ocular albinism from the distal short arm of the human X chromosome. Nature Genetics 10: 13-19.

 

Gambacorti C, Ott J, Bergen AAB (1995)  The internet communication forum HUM-MOLGEN. New Engl Journ of Med 333, 23:1573-1574 

 

Berger W, Meindl A, van der Pol TJR, Cremers FPM, Ropers HH, Doerner C, Monaco A, Bergen AAB, Lebo R, Warburg M, Zergollern, Lorenz B, Gal A, Bleeker Wagemakers EM, Meitinger T (1992) Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics 1:199 203.

 

 

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Bergen: High impact publications or cited >100 x (1992-2012)

NEJM (2x)

JAMA (1x)

Nature Genetics (8x)

The Lancet (2x)

Science (1x)

Circulation (1x)

Am J Hum Genet (7x)

PLoS Genet (2x)

Prog Ret Eye Res (1x)

Gen Res (1x)

Hum Mol Genet (4x)

Surv Ophthalmol (1x) 

ZonMw Parelproject Price 2010 Genetics of AMD

Other Awards

1993 Binkhorst Prize (Best Thesis)

2005 Retina Netherlands AIO prize