Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析，检测出线粒体DNA变异，从而解决了未确诊的病例。
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100441
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
