1. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. (May 2018) Authors: Orenstein, Naama; Goldberg-Stern, Hadassa; Straussberg, Rachel; Bazak, Lily; Weisz Hubshman, Monika; Kropach, Nesia; Gilad, Oded; Scheuerman, Oded; Dory, Yahav; Kraus, Dror; Tzur, Shay; Magal, Nurit; Kilim, Yael; Shkalim Zemer, Vered; Basel-Salmon, Lina Journal: European journal of paediatric neurology Issue: Volume 22:Number 3(2018:May) Page Start: 516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome. Issue 1 (24th September 2021) Authors: Ruhrman‐Shahar, Noa; Assia Batzir, Nurit; Lidzbarsky, Gabriel Arie; Bazak, Lily; Magal, Nurit; Basel‐Salmon, Lina Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia. (7th January 2022) Authors: Salzer‐Sheelo, Liat; Fellner, Avi; Orenstein, Naama; Bazak, Lily; Lev‐El Halabi, Noa; Daue, Melanie; Smirin‐Yosef, Pola; Van Hout, Cristopher V.; Fellig, Yakov; Ruhrman‐Shahar, Noa; Staples, Jeffrey; Magal, Nurit; Shuldiner, Alan R.; Mitchell, Braxton D.; Nevo, Yoram; Pollin, Toni I.; Gonzaga‐Jau... Journal: European journal of neurology Issue: Volume 29:Number 4(2022) Page Start: 1174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterizing of functional human coding RNA editing from evolutionary, structural, and dynamic perspectives. Issue 11 (3rd September 2014) Authors: Solomon, Oz; Bazak, Lily; Levanon, Erez Y.; Amariglio, Ninette; Unger, Ron; Rechavi, Gideon; Eyal, Eran Journal: Proteins Issue: Volume 82:Issue 11(2014) Page Start: 3117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition. Issue 2 (16th November 2021) Authors: Orenstein, Naama; Gofin, Yoel; Shomron, Noam; Ruhrman‐Shahar, Noa; Magal, Nurit; Hagari, Ofir; Azulay, Noy; Bazak, Lily; Goldberg, Yael; Basel‐Salmon, Lina Journal: Clinical genetics Issue: Volume 101:Issue 2(2022) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia. Issue 4 (16th March 2015) Authors: Reinstein, Eyal; Orvin, Katia; Tayeb‐Fligelman, Einav; Stiebel‐Kalish, Hadas; Tzur, Shay; Pimienta, Allen L.; Bazak, Lily; Bengal, Tuvia; Cohen, Lior; Gaton, Dan D.; Bormans, Concetta; Landau, Meytal; Kornowski, Ran; Shohat, Mordechai; Behar, Doron M. Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Issue 5 (3rd March 2021) Authors: Goldberg, Yael; Laitman, Yael; Ben David, Merav; Bazak, Lily; Lidzbarsky, Gabriel; Salmon, Lina B.; Shkedi‐Rafid, Shiri; Barshack, Iris; Avivi, Camila; Darawshe, Malak; Shomron, Noam; Bruchim, Revital; Vinkler, Chana; Yannoukakos, Drakoulis; Fostira, Florentia; Bernstein‐Molho, Rinat; Friedman, E... Journal: Human mutation Issue: Volume 42:Issue 5(2021) Page Start: 592 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting. (31st March 2021) Authors: Sukenik‐Halevy, Rivka; Ruhrman‐Shahar, Noa; Orenstein, Naama; Gonzaga‐Jauregui, Claudia; Shuldiner, Alan R.; Magal, Nurit; Hagari, Ofir; Azulay, Noy; Lidzbarsky, Gabriel A.; Bazak, Lily; Basel‐Salmon, Lina Journal: Prenatal diagnosis Issue: Volume 41:Number 6(2021) Page Start: 701 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗