1. 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) ↗
2. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Issue 8 (3rd June 2015) Authors: Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassa... Journal: Journal of medical genetics Issue: Volume 52:Issue 8(2015) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. Issue 9 (22nd July 2014) Authors: Gillis, David; Krishnamohan, Aiswarya; Yaacov, Barak; Shaag, Avraham; Jackman, Jane E; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 51:Issue 9(2014) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗