| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 245 | 2015 |
| Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome V Frank, AI den Hollander, NO Brüchle, MN Zonneveld, G Nürnberg, ... Human mutation 29 (1), 45-52, 2008 | 236 | 2008 |
| Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, ... The American journal of human genetics 85 (2), 240-247, 2009 | 230 | 2009 |
| Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 215 | 2015 |
| Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography AAHJ Thiadens, V Somervuo, LI van den Born, S Roosing, ... Investigative ophthalmology & visual science 51 (11), 5952-5957, 2010 | 179 | 2010 |
| 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 | 168 | 2012 |
| Causes and consequences of inherited cone disorders S Roosing, AAHJ Thiadens, CB Hoyng, CCW Klaver, AI den Hollander, ... Progress in retinal and eye research 42, 1-26, 2014 | 159 | 2014 |
| Genetic etiology and clinical consequences of complete and incomplete achromatopsia AAHJ Thiadens, NWR Slingerland, S Roosing, MJ van Schooneveld, ... Ophthalmology 116 (10), 1984-1989. e1, 2009 | 141 | 2009 |
| 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 | 135 | 2012 |
| 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 | 115 | 2010 |
| Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy S Roosing, K Rohrschneider, A Beryozkin, D Sharon, N Weisschuh, ... The American Journal of Human Genetics 93 (1), 110-117, 2013 | 93 | 2013 |
| Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome S Roosing, M Hofree, S Kim, E Scott, B Copeland, M Romani, JL Silhavy, ... Elife 4, e06602, 2015 | 87 | 2015 |
| The common ABCA4 variant p. Asn1868Ile shows nonpenetrance and variable expression of Stargardt disease when present in trans with severe variants EH Runhart, R Sangermano, SS Cornelis, JBGM Verheij, AS Plomp, ... Investigative ophthalmology & visual science 59 (8), 3220-3231, 2018 | 85 | 2018 |
| Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant NM Bax, R Sangermano, S Roosing, AAHJ Thiadens, LH Hoefsloot, ... Human mutation 36 (1), 43-47, 2015 | 84 | 2015 |
| Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy AAHJ Thiadens, S Roosing, RWJ Collin, N van Moll-Ramirez, ... Ophthalmology 117 (4), 825-830. e1, 2010 | 83 | 2010 |
| 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 | 82 | 2009 |
| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase KLM Coene, DA Mans, K Boldt, CJ Gloeckner, J van Reeuwijk, E Bolat, ... Human molecular genetics 20 (18), 3592-3605, 2011 | 80 | 2011 |
| Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ... The American Journal of Human Genetics 107 (5), 802-814, 2020 | 76 | 2020 |
| Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy S Roosing, LI van den Born, R Sangermano, S Banfi, RK Koenekoop, ... Ophthalmology 122 (1), 170-179, 2015 | 75 | 2015 |
| Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy S Roosing, IJC Lamers, E de Vrieze, LI van den Born, S Lambertus, ... The American Journal of Human Genetics 95 (2), 131-142, 2014 | 73 | 2014 |
