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 homozygous TTN gene variant associated with lethal congenital contracture syndrome. Issue 4 (25th March 2018) Authors: Chervinsky, Elena; Khayat, Morad; Soltsman, Sofia; Habiballa, Hatem; Elpeleg, Orly; Shalev, Stavit Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 1001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A human laterality disorder associated with recessive CCDC11 mutation. Issue 6 (10th May 2012) Authors: Perles, Zeev; Cinnamon, Yuval; Ta-Shma, Asaf; Shaag, Avraham; Einbinder, Tom; Rein, Azaria J J T; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 49:Issue 6(2012) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. 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) ↗
7. An SNX10 mutation causes malignant osteopetrosis of infancy. Issue 4 (12th April 2012) Authors: Aker, Memet; Rouvinski, Alex; Hashavia, Saar; Ta-Shma, Asaf; Shaag, Avraham; Zenvirt, Shamir; Israel, Shoshana; Weintraub, Michael; Taraboulos, Albert; Bar-Shavit, Zvi; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. Issue 4 (13th January 2021) Authors: Mor‐Shaked, Hagar; Salah, Somaya; Yanovsky‐Dagan, Shira; Meiner, Vardiella; Atawneh, Osama M.; Abu‐Libdeh, Bassam; Elpeleg, Orly; Harel, Tamar Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 577 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. Issue 1 (11th October 2021) Authors: Pagnamenta, Alistair T.; Jackson, Adam; Perveen, Rahat; Beaman, Glenda; Petts, Gemma; Gupta, Asheeta; Hyder, Zerin; Chung, Brian Hon‐Yin; Kan, Anita Sik‐Yau; Cheung, Ka Wang; Kerstjens‐Frederikse, Wilhelmina S.; Abbott, Kristin M.; Elpeleg, Orly; Taylor, Jenny C.; Banka, Siddharth; Ta‐Shma, Asaf Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. Issue 5 (28th December 2016) Authors: Gerber, Sylvie; Ding, Martina G; Gérard, Xavier; Zwicker, Klaus; Zanlonghi, Xavier; Rio, Marlène; Serre, Valérie; Hanein, Sylvain; Munnich, Arnold; Rotig, Agnès; Bianchi, Lucas; Amati-Bonneau, Patrizia; Elpeleg, Orly; Kaplan, Josseline; Brandt, Ulrich; Rozet, Jean-Michel Journal: Journal of medical genetics Issue: Volume 54:Issue 5(2017) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗