1. Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations. Issue 8 (November 2018) Authors: Mijalovsky, Analia; Halperin, Daniel; Perez, Yonatan; Zafarov, Beatrice; Shaco-Levy, Ruthy; Kapelushnik, Joseph; Flusser, Hagit; Birk, Ohad S. Journal: Journal of pediatric hematology/oncology Issue: Volume 40:Issue 8(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. 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) ↗
5. A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy. (17th November 2021) Authors: Halperin, Daniel; Pavord, Sue; Myers, Bethan Journal: Platelets Issue: Volume 32:Number 8(2021) Page Start: 1124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. (12th April 2019) Authors: Halperin, Daniel; Dolgin, Vadim; Geylis, Michael; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Schreiber, Ruth; Shalev, Hanna; Landau, Daniel; Birk, Ohad S. Journal: Annals of human genetics Issue: Volume 83:Number 5(2019:Sep.) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019. Issue 8 (August 2020) Authors: Grubbs, Elizabeth; Halperin, Daniel; Waguespack, Steven G; Gagel, Robert F Journal: Endocrine-related cancer Issue: Volume 27:Issue 8(2020) Page Start: E1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bing-Neel Syndrome Case Report: A Previously Undocumented IgG Variant with MRI, PET/CT, and PET/MRI Imaging. (6th April 2016) Authors: Halperin, Daniel; Hallam, Simon; Haroon, Athar; Butler, Tom; Agrawal, Samir Other Names: Kyrtsonis Marie-Christine Academic Editor. Journal: Case reports in hematology Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019. Issue 8 (August 2020) Authors: Grubbs, Elizabeth; Halperin, Daniel; Waguespack, Steven G; Gagel, Robert F Journal: Endocrine-related cancer Issue: Volume 27:Issue 8(2020) Page Start: E1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗