Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Titel:
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Auteur:
Stenton, Sarah L. Laricchia, Kristen Lake, Nicole J. Chaluvadi, Sushma Ganesh, Vijay DiTroia, Stephanie Osei-Owusu, Ikeoluwa Pais, Lynn O’Heir, Emily Austin-Tse, Christina O’Leary, Melanie Abu Shanap, Mayada Barrows, Chelsea Berger, Seth Bönnemann, Carsten G. Bujakowska, Kinga M. Campagna, Dean R. Compton, Alison G. Donkervoort, Sandra Fleming, Mark D. Gallacher, Lyndon Gleeson, Joseph G. Haliloglu, Goknur Pierce, Eric A. Place, Emily M. Sankaran, Vijay G. Shimamura, Akiko Stark, Zornitza Tan, Tiong Yang Thorburn, David R. White, Susan M. Zaki, Maha S. Vilain, Eric Lek, Monkol Rehm, Heidi L. O’Donnell-Luria, Anne