Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Por Xinjing Wang, Wadih M. Zein, Leera D’Souza, Chimere Roberson, Keith Wetherby, Hong He, Angela Villarta, Amy Turriff, Kory R. Johnson, Yang C. Fann
Publicado em 2017-08-01

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

Por Chelsea Bender, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff, Santa J. Tumminia, Paul A. Sieving, Catherine A. Cukras, Robert B. Hufnagel
Publicado em 2022-04-01