Items where Author is "Sharon, Dror"

2021

Ruberto, Francesco Paolo and Balzano, Sara and Namburi, Prasanthi and Kimchi, Adva and Pescini-Gobert, Rosanna and Obolensky, Alexey and Banin, Eyal and Ben-Yosef, Tamar and Sharon, Dror and Rivolta, Carlo. (2021) Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression. Molecular Vision, 27. pp. 107-116.

2020

Hanany, Mor and Rivolta, Carlo and Sharon, Dror. (2020) Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proceedings of the National Academy of Sciences of the United States of America, 117 (5). pp. 2710-2716.

2018

Khateb, Samer and Kowalewski, Björn and Bedoni, Nicola and Damme, Markus and Pollack, Netta and Saada, Ann and Obolensky, Alexey and Ben-Yosef, Tamar and Gross, Menachem and Dierks, Thomas and Banin, Eyal and Rivolta, Carlo and Sharon, Dror. (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genetics in medicine, 20 (9). pp. 1004-1012.

2016

Sharon, Dror and Kimchi, Adva and Rivolta, Carlo. (2016) OR2W3 sequence variants are unlikely to cause inherited retinal diseases. Ophthalmic Genetics, 37 (4). pp. 366-368.

2015

Di Gioia, Silvio Alessandro and Farinelli, Pietro and Letteboer, Stef J. F. and Arsenijevic, Yvan and Sharon, Dror and Roepman, Ronald and Rivolta, Carlo. (2015) Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network. Human Molecular Genetics, 24 (12). pp. 3359-3371.

2013

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.

2012

Di Gioia, Silvio Alessandro and Letteboer, Stef J. F. and Kostic, Corinne and Bandah-Rozenfeld, Dikla and Hetterschijt, Lisette and Sharon, Dror and Arsenijevic, Yvan and Roepman, Ronald and Rivolta, Carlo. (2012) FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Human Molecular Genetics, 21 (23). pp. 5174-5184.

2002

Rivolta, Carlo and Sharon, Dror and DeAngelis, Margaret M. and Dryja, Thaddeus P.. (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human Molecular Genetics, 11 (10). pp. 1219-1227.