1. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. Issue 1 (12th November 2017) Authors: Guen, Vincent J.; Edvardson, Simon; Fraenkel, Nitay D.; Fattal‐Valevski, Aviva; Jalas, Chaim; Anteby, Irene; Shaag, Avraham; Dor, Talia; Gillis, David; Kerem, Eitan; Lees, Jacqueline A.; Colas, Pierre; Elpeleg, Orly Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A human laterality disorder caused by a homozygous deleterious mutation in MMP21. Issue 12 (1st October 2015) Authors: Perles, Zeev; Moon, Sungjin; Ta-Shma, Asaf; Yaacov, Barak; Francescatto, Ludmila; Edvardson, Simon; Rein, Azaria JJT; Elpeleg, Orly; Katsanis, Nicholas Journal: Journal of medical genetics Issue: Volume 52:Issue 12(2015) Page Start: 840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. (December 2018) Authors: Diepen, Laura; Buettner, Falk; Hoffmann, Dirk; Thiesler, Christina; von Bohlen und Halbach, Oliver; von Bohlen und Halbach, Viola; Jensen, Lars; Steinemann, Doris; Edvardson, Simon; Elpeleg, Orly; Schambach, Axel; Gerardy-Schahn, Rita; Kuss, Andreas Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1773 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. Issue 4 (7th February 2013) Authors: Edvardson, Simon; Porcelli, Vito; Jalas, Chaim; Soiferman, Devorah; Kellner, Yuval; Shaag, Avraham; Korman, Stanley H; Pierri, Ciro Leonardo; Scarcia, Pasquale; Fraenkel, Nitay D; Segel, Reeval; Schechter, Abraham; Frumkin, Ayala; Pines, Ophry; Saada, Ann; Palmieri, Luigi; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 50:Issue 4(2013) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Attention Deficit Hyperactivity Disorders Symptomatology Among Individuals With Down Syndrome. Issue 1 (March 2014) Authors: Edvardson, Simon; Msallam, Nadira; Hertz, Pnina; Malkiel, Sarah; Wexler, Isaiah D.; Tenenbaum, Ariel Journal: Journal of policy and practice in intellectual disabilities Issue: Volume 11:Issue 1(2014) Page Start: 58 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. Issue 4 (13th January 2014) Authors: Ta-Shma, Asaf; El-lahham, Nael; Edvardson, Simon; Stepensky, Polina; Nir, Amiram; Perles, Zeev; Gavri, Sagui; Golender, Julius; Yaakobi-Simhayoff, Nurit; Shaag, Avraham; Rein, Azaria J J T; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 51:Issue 4(2014) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. Issue 10 (12th May 2016) Authors: Mandel, Hanna; Saita, Shotaro; Edvardson, Simon; Jalas, Chaim; Shaag, Avraham; Goldsher, Dorit; Vlodavsky, Euvgeni; Langer, Thomas; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 53:Issue 10(2016) Page Start: 690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. Issue 6 (20th January 2016) Authors: Edvardson, Simon; Yi, Jae Kyo; Jalas, Chaim; Xu, Ruijuan; Webb, Bryn D; Snider, Justin; Fedick, Anastasia; Kleinman, Elisheva; Treff, Nathan R; Mao, Cungui; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 53:Issue 6(2016) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. (May 2021) Authors: Fattal-Valevski, Aviva; Ben Sira, Liat; Lerman-Sagie, Tally; Strausberg, Rachel; Bloch-Mimouni, Aviva; Edvardson, Simon; Kaufman, Rami; Chernuha, Veronika; Schneebaum Sender, Nira; Heimer, Gali; Ben Zeev, Bruria Journal: European journal of paediatric neurology Issue: Volume 32(2021) Page Start: 40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. Issue 2 (20th January 2013) Authors: Edvardson, Simon; Oz, Shimrit; Abulhijaa, Fida Aziz; Taher, Flora Barghouthi; Shaag, Avraham; Zenvirt, Shamir; Dascal, Nathan; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 50:Issue 2(2013) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗