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 null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Issue 2 (20th February 2017) Authors: Skorecki, Karl L; Lee, Jessica H; Langefeld, Carl D; Rosset, Saharon; Tzur, Shay; Wasser, Walter G; Shemer, Revital; Hawkins, Gregory A; Divers, Jasmin; Parekh, Rulan S; Li, Man; Sampson, Matthew G; Kretzler, Matthias; Pollak, Martin R; Shah, Shrijal; Blackler, Daniel; Nichols, Brendan; Wilmot, M... Journal: Nephrology dialysis transplantation Issue: Volume 33:Issue 2(2018) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. Issue 5 (16th October 2018) Authors: Shalata, Adel; Lauhasurayotin, Supanun; Leibovitz, Zvi; Li, Hongbing; Hebert, Diane; Dhanraj, Santhosh; Hadid, Yarin; Mahroum, Mohammed; Bajar, Jacob; Egenburg, Sandro; Arad, Ayala; Shohat, Mordechai; Haddad, Sami; Bakry, Hassan; Moshiri, Houtan; Scherer, Stephen W; Tzur, Shay; Dror, Yigal Journal: Journal of medical genetics Issue: Volume 56:Issue 5(2019) Page Start: 340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Issue 4 (6th March 2017) Authors: Janecke, Andreas R.; Xu, Ruijuan; Steichen‐Gersdorf, Elisabeth; Waldegger, Siegfried; Entenmann, Andreas; Giner, Thomas; Krainer, Iris; Huber, Lukas A; Hess, Michael W; Frishberg, Yaacov; Barash, Hila; Tzur, Shay; Schreyer‐Shafir, Nira; Sukenik–Halevy, Rivka; Zehavi, Tania; Raas‐Rothschild, Annic... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma. (2020) Authors: Laitman, Yael; Tzur, Shay; Attali, Ruben; Tirosh, Amit; Friedman, Eitan Journal: Genetical research Issue: Volume 102(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation. (March 2015) Authors: Straussberg, Rachel; Ganelin-Cohen, Esther; Goldberg-Stern, Hadassah; Tzur, Shay; Behar, Doron M.; Smirin-Yosef, Pola; Salmon-Divon, Mali; Basel-Vanagaite, Lina Journal: European journal of paediatric neurology Issue: Volume 19:Number 2(2015:Mar.) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation. (March 2015) Authors: Straussberg, Rachel; Ganelin-Cohen, Esther; Goldberg-Stern, Hadassah; Tzur, Shay; Behar, Doron M.; Smirin-Yosef, Pola; Salmon-Divon, Mali; Basel-Vanagaite, Lina Journal: European journal of paediatric neurology Issue: Volume 19:Number 2(2015:Mar.) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Strictly conserved tri-nucleotide motif "CAT" is associated with TAS DNA protein-binding sites in human mitochondrial DNA control region. (4th March 2017) Authors: Tzur, Shay; Rosset, Saharon Journal: Mitochondrial DNA Issue: Volume 28:Number 2(2017) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome. Issue 1 (December 2017) Authors: Behar, Doron; Saag, Lauri; Karmin, Monika; Gover, Meir; Wexler, Jeffrey; Sanchez, Luisa; Greenspan, Elliott; Kushniarevich, Alena; Davydenko, Oleg; Sahakyan, Hovhannes; Yepiskoposyan, Levon; Boattini, Alessio; Sarno, Stefania; Pagani, Luca; Carmi, Shai; Tzur, Shay; Metspalu, Ene; Bormans, Concett... Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗