Mutations in TRPM1 are a common cause of complete congenital stationary night blindness MM van Genderen, MMC Bijveld, YB Claassen, RJ Florijn, JN Pearring, ... The American Journal of Human Genetics 85 (5), 730-736, 2009 | 257 | 2009 |
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram C Zeitz, M van Genderen, J Neidhardt, UFO Luhmann, F Hoeben, ... Investigative ophthalmology & visual science 46 (11), 4328-4335, 2005 | 184 | 2005 |
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ... The American Journal of Human Genetics 91 (3), 527-532, 2012 | 172 | 2012 |
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness NS Peachey, TA Ray, R Florijn, LB Rowe, T Sjoerdsma, ... The American Journal of Human Genetics 90 (2), 331-339, 2012 | 159 | 2012 |
Clinical course, genetic etiology, and visual outcome in cone and cone–rod dystrophy AAHJ Thiadens, TML Phan, RC Zekveld-Vroon, BP Leroy, ... Ophthalmology 119 (4), 819-826, 2012 | 140 | 2012 |
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature MM van Genderen, GF Kinds, FCC Riemslag, RCM Hennekam British journal of ophthalmology 84 (10), 1177-1184, 2000 | 128 | 2000 |
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness MMC Bijveld, RJ Florijn, AAB Bergen, LI van den Born, M Kamermans, ... Ophthalmology 120 (10), 2072-2081, 2013 | 121 | 2013 |
Homozygosity mapping in patients with cone–rod dystrophy: novel mutations and clinical characterizations KW Littink, RK Koenekoop, LI van den Born, RWJ Collin, L Moruz, ... Investigative ophthalmology & visual science 51 (11), 5943-5951, 2010 | 116 | 2010 |
Changes in causes of low vision between 1988 and 2009 in a Dutch population of children N Boonstra, H Limburg, N Tijmes, M van Genderen, J Schuil, ... Acta ophthalmologica 90 (3), 277-286, 2012 | 112 | 2012 |
The phenotypic spectrum of albinism CC Kruijt, GC de Wit, AA Bergen, RJ Florijn, NE Schalij-Delfos, ... Ophthalmology 125 (12), 1953-1960, 2018 | 109 | 2018 |
Genotypic and phenotypic characteristics of CRB1-associated retinal dystrophies: a long-term follow-up study M Talib, MJ van Schooneveld, MM van Genderen, J Wijnholds, RJ Florijn, ... Ophthalmology 124 (6), 884-895, 2017 | 101 | 2017 |
Diagnosing cerebral visual impairment in children with good visual acuity M van Genderen, M Dekker, F Pilon, I Bals Strabismus 20 (2), 78-83, 2012 | 98 | 2012 |
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism JA Poulter, M Al-Araimi, I Conte, MM Van Genderen, E Sheridan, IM Carr, ... The American Journal of Human Genetics 93 (6), 1143-1150, 2013 | 91 | 2013 |
A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder KW Littink, MM van Genderen, RWJ Collin, S Roosing, APM de Brouwer, ... Investigative ophthalmology & visual science 50 (5), 2344-2350, 2009 | 83 | 2009 |
Development of refractive errors—what can we learn from inherited retinal dystrophies? M Hendriks, VJM Verhoeven, GHS Buitendijk, JR Polling, ... American Journal of Ophthalmology 182, 81-89, 2017 | 75 | 2017 |
Chiasmal misrouting and foveal hypoplasia without albinism MM van Genderen, FCC Riemslag, J Schuil, FP Hoeben, JS Stilma, ... British journal of ophthalmology 90 (9), 1098-1102, 2006 | 71 | 2006 |
Clinical and genetic characteristics of male patients with RPGR-associated retinal dystrophies: a long-term follow-up study M Talib, MJ Van Schooneveld, AA Thiadens, M Fiocco, J Wijnholds, ... Retina 39 (6), 1186-1199, 2019 | 68 | 2019 |
A clinical and molecular characterisation of CRB1-associated maculopathy KN Khan, A Robson, OAR Mahroo, G Arno, CF Inglehearn, M Armengol, ... European Journal of Human Genetics 26 (5), 687-694, 2018 | 67 | 2018 |
Genotyping microarray for CSNB-associated genes C Zeitz, B Lorenz, U Forster, J Üksti, HY Kroes, E De Baere, BP Leroy, ... Investigative ophthalmology & visual science 50 (12), 5919-5926, 2009 | 61 | 2009 |
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population S Yzer, LI Van Den Born, J Schuil, HY Kroes, MM Van Genderen, ... Journal of medical genetics 40 (9), 709-713, 2003 | 61 | 2003 |