| High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 S Mordechai, L Gradstein, A Pasanen, R Ofir, K El Amour, J Levy, ... The American Journal of Human Genetics 89 (3), 438-445, 2011 | 123 | 2011 |
| SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome Y Perez, Z Shorer, K Liani-Leibson, P Chabosseau, R Kadir, ... Brain 140 (4), 928-939, 2017 | 89 | 2017 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) D Sharon, T Ben‐Yosef, N Goldenberg‐Cohen, E Pras, L Gradstein, ... Human mutation 41 (1), 140-149, 2020 | 88 | 2020 |
| Congenital periodic alternating nystagmus: diagnosis and management L Gradstein, RD Reinecke, SS Wizov, HP Goldstein Ophthalmology 104 (6), 918-929, 1997 | 77 | 1997 |
| Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract D Cohen, U Bar-Yosef, J Levy, L Gradstein, N Belfair, R Ofir, S Joshua, ... Investigative ophthalmology & visual science 48 (5), 2208-2213, 2007 | 75 | 2007 |
| UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel … Y Perez, R Kadir, M Volodarsky, I Noyman, H Flusser, Z Shorer, ... Journal of medical genetics 53 (6), 397-402, 2016 | 56 | 2016 |
| Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation Y Perez, L Gradstein, H Flusser, B Markus, I Cohen, Y Langer, M Marcus, ... European Journal of Human Genetics 22 (5), 703-706, 2014 | 52 | 2014 |
| Ocular motor ability and covert attention in patients with Duane Retraction Syndrome S Gabay, A Henik, L Gradstein Neuropsychologia 48 (10), 3102-3109, 2010 | 49 | 2010 |
| Ocular and orbital complications following the treatment of retinoblastoma I Anteby, N Ramu, L Gradstein, H Miskin, J Pe'er, D Benezra European journal of ophthalmology 8 (2), 106-111, 1998 | 44 | 1998 |
| SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome O Wormser, L Gradstein, Y Yogev, Y Perez, R Kadir, I Goliand, Y Sadka, ... European Journal of Human Genetics 27 (6), 928-940, 2019 | 42 | 2019 |
| Eye movements in chorea-acanthocytosis L Gradstein, A Danek, J Grafman, EJ FitzGibbon Investigative ophthalmology & visual science 46 (6), 1979-1987, 2005 | 42 | 2005 |
| Eye movement abnormalities in hermansky-pudlak syndrome L Gradstein, EJ FitzGibbon, ET Tsilou, BI Rubin, M Huizing, WA Gahl Journal of American Association for Pediatric Ophthalmology and Strabismus 9 …, 2005 | 37 | 2005 |
| Hermansky–Pudlak syndrome WDJ Rojas, LR Young Seminars in Respiratory and Critical Care Medicine 41 (02), 238-246, 2020 | 34 | 2020 |
| SEC31A mutation affects ER homeostasis, causing a neurological syndrome D Halperin, R Kadir, Y Perez, M Drabkin, Y Yogev, O Wormser, ... Journal of Medical Genetics 56 (3), 139-148, 2019 | 34 | 2019 |
| A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics N Schreyer‐Shafir, M Huizing, Y Anikster, Z Nusinker, ... Human Mutation 27 (11), 1158-1158, 2006 | 34 | 2006 |
| COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) T Harel, R Rabinowitz, N Hendler, A Galil, H Flusser, J Chemke, ... American Journal of Medical Genetics Part A 132 (1), 33-35, 2005 | 33 | 2005 |
| A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A D Fine, H Flusser, B Markus, Z Shorer, L Gradstein, S Khateeb, Y Langer, ... European Journal of Human Genetics 23 (12), 1729-1734, 2015 | 27 | 2015 |
| Localization of autosomal recessive congenital cataracts in con-sanguineous Pakistani families to a new locus on chromosome 1p T Butt, W Yao, H Kaul, X Jiao, L Gradstein, Y Zhang, T Husnain, ... | 26 | 2007 |
| Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred L Gradstein, J Zolotushko, YV Sergeev, I Lavy, G Narkis, Y Perez, ... BMC Medical Genetics 17, 1-6, 2016 | 20 | 2016 |
| Relationships among visual acuity demands, convergence, and nystagmus in patients with manifest/latent nystagmus L Gradstein, HP Goldstein, SS Wizov, T Hayashi, RD Reinecke Journal of American Association for Pediatric Ophthalmology and Strabismus 2 …, 1998 | 19 | 1998 |
