A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews L Zelinger, E Banin, A Obolensky, L Mizrahi-Meissonnier, A Beryozkin, ... The American Journal of Human Genetics 88 (2), 207-215, 2011 | 139 | 2011 |
Gene augmentation therapy restores retinal function and visual behavior in a sheep model of CNGA3 achromatopsia E Banin, E Gootwine, A Obolensky, R Ezra-Elia, A Ejzenberg, L Zelinger, ... Molecular therapy 23 (9), 1423-1433, 2015 | 128 | 2015 |
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa D Bandah-Rozenfeld, RWJ Collin, E Banin, LI Van Den Born, KLM Coene, ... The American Journal of Human Genetics 87 (2), 199-208, 2010 | 118 | 2010 |
NRL-regulated transcriptome dynamics of developing rod photoreceptors JW Kim, HJ Yang, MJ Brooks, L Zelinger, G Karakülah, N Gotoh, A Boleda, ... Cell reports 17 (9), 2460-2473, 2016 | 109 | 2016 |
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 | 97 | 2013 |
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice DA Parry, C Toomes, L Bida, M Danciger, KV Towns, M McKibbin, ... The American Journal of Human Genetics 84 (5), 683-691, 2009 | 92 | 2009 |
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome S Khateb, L Zelinger, L Mizrahi-Meissonnier, C Ayuso, RK Koenekoop, ... Journal of medical genetics 51 (7), 460-469, 2014 | 90 | 2014 |
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, ... The American Journal of Human Genetics 93 (2), 321-329, 2013 | 81 | 2013 |
Genetics and disease expression in the CNGA3 form of achromatopsia: steps on the path to gene therapy L Zelinger, AV Cideciyan, S Kohl, SB Schwartz, A Rosenmann, D Eli, ... Ophthalmology 122 (5), 997-1007, 2015 | 75 | 2015 |
Identification of mutations causing inherited retinal degenerations in the Israeli and Palestinian populations using homozygosity mapping A Beryozkin, L Zelinger, D Bandah-Rozenfeld, E Shevach, A Harel, ... Investigative ophthalmology & visual science 55 (2), 1149-1160, 2014 | 54 | 2014 |
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late … S Khateb, L Zelinger, T Ben-Yosef, S Merin, O Crystal-Shalit, M Gross, ... PLoS One 7 (12), e51566, 2012 | 37 | 2012 |
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone–rod dystrophy in israel CH Lazar, M Mutsuddi, A Kimchi, L Zelinger, L Mizrahi-Meissonnier, ... Investigative Ophthalmology & Visual Science 56 (1), 420-430, 2015 | 36 | 2015 |
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations A Beryozkin, L Zelinger, D Bandah-Rozenfeld, A Harel, TA Strom, S Merin, ... Investigative ophthalmology & visual science 54 (3), 2068-2075, 2013 | 35 | 2013 |
RNA biology in retinal development and disease L Zelinger, A Swaroop Trends in Genetics 34 (5), 341-351, 2018 | 29 | 2018 |
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype L Zelinger, B Wissinger, D Eli, S Kohl, D Sharon, E Banin Ophthalmology 120 (11), 2338-2343, 2013 | 24 | 2013 |
Regulation of noncoding transcriptome in developing photoreceptors by rod differentiation factor NRL L Zelinger, G Karakülah, V Chaitankar, JW Kim, HJ Yang, MJ Brooks, ... Investigative ophthalmology & visual science 58 (11), 4422-4435, 2017 | 23 | 2017 |
Nonsyndromic early‐onset cone‐rod dystrophy and limb‐girdle muscular dystrophy in a consanguineous israeli family are caused by two independent yet linked mutations in ALMS1 … CH Lazar, A Kimchi, P Namburi, M Mutsuddi, L Zelinger, A Beryozkin, ... Human mutation 36 (9), 836-841, 2015 | 22 | 2015 |
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews L Zelinger, A Greenberg, S Kohl, E Banin, D Sharon Human genetics 128, 261-267, 2010 | 18 | 2010 |
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations A AlTalbishi, L Zelinger, C Zeitz, K Hendler, P Namburi, I Audo, R Sheffer, ... Scientific Reports 9 (1), 12047, 2019 | 15 | 2019 |
SSBP1 faux pas in mitonuclear tango causes optic neuropathy L Zelinger, A Swaroop The Journal of Clinical Investigation 130 (1), 62-64, 2020 | 3 | 2020 |