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. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Issue 7 (9th June 2022) Authors: Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Bo... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 7(2022) Page Start: 1080 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. Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis. (19th May 2022) Authors: Steinberg-Shemer, Orna; Orenstein, Naama; Krasnov, Tanya; Noy-Lotan, Sharon; Marcoux, Nathaly; Dgany, Orly; Yacobovich, Joanne; Gilad, Oded; Shabad, Evelyn; Basel-Salmon, Lina; Tamary, Hannah Journal: Platelets Issue: Volume 33:Number 4(2022) Page Start: 645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia. Issue 5 (14th October 2021) Authors: Schob, Claudia; Hempel, Maja; Safka Brozkova, Dana; Jiang, Huafang; Kim, Soo Yeon; Batzir, Nurit Assia; Orenstein, Naama; Bierhals, Tatjana; Johannsen, Jessika; Uhrova Meszarosova, Anna; Chae, Jong‐Hee; Seeman, Pavel; Woidy, Mathias; Fang, Fang; Kubisch, Christian; Kindler, Stefan; Denecke, Jonas Journal: Annals of neurology Issue: Volume 90:Issue 5(2021) Page Start: 738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature. Issue 3 (4th January 2021) Authors: Stern, Tomer; Orenstein, Naama; Fellner, Avi; Lev‐El Halabi, Noa; Shuldiner, Alan R.; Gonzaga‐Jauregui, Claudia; Lidzbarsky, Gabriel; Basel‐Salmon, Lina; Goldberg‐Stern, Hadassa Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. (4th May 2021) Authors: Ehrenberg, Miriam; Bagdonite-Bejarano, Laura; Fulton, Anne B.; Orenstein, Naama; Yahalom, Claudia Journal: Ophthalmic genetics Issue: Volume 42:Number 3(2021) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1. (3rd July 2021) Authors: Rossenwasser-Weiss, Shirel; Orenstein, Naama; Zahavi, Alon; Goldenberg-Cohen, Nitza Journal: Current eye research Issue: Volume 46:Number 7(2021) Page Start: 1051 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗