Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan

por Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf
Publicado 2020

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

por Thaxton, Courtney, Goldstein, Jennifer, DiStefano, Marina, Wallace, Kathleen, Witmer, P. Dane, Haendel, Melissa A., Hamosh, Ada, Rehm, Heidi L., Berg, Jonathan S.
Publicado 2022