1. 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) ↗
2. A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3. Issue 2 (5th May 2022) Authors: Halperin, Daniel; Agam, Nadav; Hallak, Maher; Feinstein, Miora; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Shavit, Eitan; Gradstein, Libe; Shelef, Ilan; Mijalovsky, Aanalia; Flusser, Hagit; Birk, Ohad S. Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. (10th September 2015) Authors: Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S. Journal: Human molecular genetics Issue: Volume 24:Number 22(2015:Nov. 15) Page Start: 6485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. Issue 12 (4th December 2018) Authors: Wormser, Ohad; Gradstein, Libe; Kadar, Einat; Yogev, Yuval; Perez, Yonatan; Mashkit, Elena; Elbedour, Khalil; Drabkin, Max; Markus, Barak; Kadir, Rotem; Halperin, Daniel; Khalaila, Soltan; Levy, Jaime; Lifshitz, Tova; Manor, Esther; Birk, Ohad S. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2695 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred. Issue 1 (December 2016) Authors: Gradstein, Libe; Zolotushko, Jenny; Sergeev, Yuri; Lavy, Itay; Narkis, Ginat; Perez, Yonatan; Guigui, Sarah; Sharon, Dror; Banin, Eyal; Walter, Eyal; Lifshitz, Tova; Birk, Ohad Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ocular manifestations of congenital insensitivity to pain: a long-term follow-up. Issue 9 (22nd March 2021) Authors: Elsana, Baker; Gradstein, Libe; Imtirat, Ahed; Yagev, Ronit; Barrett, Chiya; Ling, Galina; Abu Tailakh, Muhammad; Baidousi, Amjad; Tsumi, Erez Journal: British journal of ophthalmology Issue: Volume 106:Issue 9(2022) Page Start: 1217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome. Issue 6 (31st March 2020) Authors: Halperin, Daniel; Drabkin, Max; Wormser, Ohad; Yogev, Yuval; Dolgin, Vadim; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Flusser, Hagit; Birk, Ohad S. Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy. Issue 3 (3rd August 2020) Authors: David, Odeya; Eskin‐Schwartz, Marina; Ling, Galina; Dolgin, Vadim; Kristal, Eyal; Benkowitz, Ela; Osyntsov, Lidia; Gradstein, Libe; Birk, Ohad S.; Loewenthal, Neta; Yerushalmi, Baruch Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PSMC1 variant causes a novel neurological syndrome. Issue 4 (3rd August 2022) Authors: Aharoni, Sarit; Proskorovski‐Ohayon, Regina; Krishnan, Ramesh Kumar; Yogev, Yuval; Wormser, Ohad; Hadar, Noam; Bakhrat, Anna; Alshafee, Ismael; Gombosh, Maya; Agam, Nadav; Gradstein, Libe; Shorer, Zamir; Zarivach, Raz; Eskin‐Schwartz, Marina; Abdu, Uri; Birk, Ohad S. Journal: Clinical genetics Issue: Volume 102:Issue 4(2022) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. SEC31A mutation affects ER homeostasis, causing a neurological syndrome. Issue 3 (21st November 2018) Authors: Halperin, Daniel; Kadir, Rotem; Perez, Yonatan; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Berman, Erez M; Eremenko, Ekaterina; Rotblat, Barak; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Birk, Ruth; Abdu, Uri; Flusser, Hagit; Birk, Ohad S Journal: Journal of medical genetics Issue: Volume 56:Issue 3(2019) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗