1. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Issue 5 (3rd September 2020) Authors: Islam, Farrah; Htun, Stephanie; Lai, Li‐Wen; Krall, Max; Poranki, Menitha; Martin, Pierre‐Marie; Sobreira, Nara; Wohler, Elizabeth S.; Yu, Jingwei; Moore, Anthony T.; Slavotinek, Anne M. Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Issue 9 (27th July 2019) Authors: Balkin, Daniel M.; Poranki, Menitha; Forester, Craig M.; Dorsey, Morna J.; Slavotinek, Anne; Pomerantz, Jason H. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗