1. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1). Issue 4 (3rd September 2015) Authors: Abdulhaq, Ulla Najwa; Daana, Mohannad; Dor, Talia; Fellig, Yakov; Eylon, Sharon; Schuelke, Markus; Shaag, Avraham; Elpeleg, Orly; Edvardson, Simon Journal: Muscle & nerve Issue: Volume 53:Issue 4(2016) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Primary and maternal 3‐methylcrotonyl‐CoA carboxylase deficiency: insights from the Israel newborn screening program. Issue 2 (13th November 2015) Authors: Rips, Jonathan; Almashanu, Shlomo; Mandel, Hanna; Josephsberg, Sagi; Lerman‐Sagie, Tally; Zerem, Ayelet; Podeh, Ben; Anikster, Yair; Shaag, Avraham; Luder, Anthony; Staretz Chacham, Orna; Spiegel, Ronen Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Isolated truncus arteriosus associated with a mutation in the plexin‐D1 gene. Issue 12 (29th October 2013) Authors: Ta‐Shma, Asaf; Pierri, Ciro Leonardo; Stepensky, Polina; Shaag, Avraham; Zenvirt, Shamir; Elpeleg, Orly; Rein, Azaria J.J.T. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Grandparental genotyping enhances exome variant interpretation. Issue 4 (6th February 2020) Authors: Daum, Hagit; Mor‐Shaked, Hagar; Ta‐Shma, Asaf; Shaag, Avraham; Silverstein, Shira; Shohat, Mordechai; Elpeleg, Orly; Meiner, Vardiella; Harel, Tamar Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Cone and rod dysfunction in the NARP syndrome. Issue 2 (1st February 1999) Authors: Chowers, Itay; Lerman-Sagie, Tally; Elpeleg, Orly N; Shaag, Avraham; Merin, Saul Journal: British journal of ophthalmology Issue: Volume 83:Issue 2(1999) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. Issue 2 (6th November 2015) Authors: Edvardson, Simon; Kose, Shingo; Jalas, Chaim; Fattal-Valevski, Aviva; Watanabe, Ai; Ogawa, Yutaka; Mamada, Hiroshi; Fedick, Anastasia M; Ben-Shachar, Shay; Treff, Nathan R; Shaag, Avraham; Bale, Sherri; Gärtner, Jutta; Imamoto, Naoko; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Issue 2 (11th November 2015) Authors: Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. Issue 2 (6th December 2013) Authors: Dor, Talya; Cinnamon, Yuval; Raymond, Laure; Shaag, Avraham; Bouslam, Naima; Bouhouche, Ahmed; Gaussen, Marion; Meyer, Vincent; Durr, Alexandra; Brice, Alexis; Benomar, Ali; Stevanin, Giovanni; Schuelke, Markus; Edvardson, Simon Journal: Journal of medical genetics Issue: Volume 51:Issue 2(2014) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗