1. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. Issue 7 (29th April 2014) Authors: Khateb, Samer; Zelinger, Lina; Mizrahi-Meissonnier, Liliana; Ayuso, Carmen; Koenekoop, Robert K; Laxer, Uri; Gross, Menachem; Banin, Eyal; Sharon, Dror Journal: Journal of medical genetics Issue: Volume 51:Issue 7(2014) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Issue 1 (15th September 2019) Authors: Sharon, Dror; Ben‐Yosef, Tamar; Goldenberg‐Cohen, Nitza; Pras, Eran; Gradstein, Libe; Soudry, Shiri; Mezer, Eedy; Zur, Dinah; Abbasi, Anan H.; Zeitz, Christina; Cremers, Frans P. M.; Khan, Muhammad I.; Levy, Jaime; Rotenstreich, Ygal; Birk, Ohad S.; Ehrenberg, Miriam; Leibu, Rina; Newman, Hadas; ... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants. Issue 8 (25th March 2019) Authors: Hanany, Mor; Sharon, Dror Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. (June 2015) Authors: Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat Journal: Ophthalmic genetics Issue: Volume 36:Number 2(2015:Jun.) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Issue 1 (30th September 2019) Authors: Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catalá‐Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou‐Tzeli, Sofia; Matet, Alexandre; Martor... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy. (2nd July 2016) Authors: Grunin, Michelle; Tiosano, Liran; Jaouni, Tareq; Averbukh, Edward; Sharon, Dror; Chowers, Itay Journal: Ophthalmic genetics Issue: Volume 37:Number 3(2016) Page Start: 285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. (March 2018) Authors: Sharon, Dror; Wimberg, Hanna; Kinarty, Yael; Koch, Karl-Wilhelm Journal: Progress in retinal and eye research Issue: Volume 63(2018:Mar.) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data. Issue 9 (22nd April 2016) Authors: Khateb, Samer; Hanany, Mor; Khalaileh, Ayat; Beryozkin, Avigail; Meyer, Segev; Abu-Diab, Alaa; Abu Turky, Fathieh; Mizrahi-Meissonnier, Liliana; Lieberman, Sari; Ben-Yosef, Tamar; Banin, Eyal; Sharon, Dror Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Inherited eye diseases : diagnosis and management /: diagnosis and management. (2005) Other Names: Merin, Saul; Zlotogora, Joel; Sharon, Dror Record Type: Book Extent: 1 online resource (xvi, 798 pages), illustrations View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities. (July 2022) Authors: Schneider, Nina; Sundaresan, Yogapriya; Gopalakrishnan, Prakadeeswari; Beryozkin, Avigail; Hanany, Mor; Levanon, Erez Y.; Banin, Eyal; Ben-Aroya, Shay; Sharon, Dror Journal: Progress in retinal and eye research Issue: Volume 89(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗