Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová(University of Helsinki), Heidi Cope(Duke University), Kelly G. Stratton(Pacific Northwest National Laboratory), Laure Frésard(Vanderbilt University Medical Center), Joy D. Cogan(Vanderbilt University Medical Center), Terra R. Coakley(Wellcome Centre for Mitochondrial Research), Carlos A. Bacino(Baylor College of Medicine), David R. Adams(National Human Genome Research Institute), Heino Heyman(Pacific Northwest National Laboratory), Bobbie‐Jo Webb‐Robertson(Pacific Northwest National Laboratory), Elizabeth A. Burke, Ashok Balasubramanyam, Kyle Thompson(Wellcome Centre for Mitochondrial Research), Mahshid S. Azamian(Baylor College of Medicine), Jennifer Kyle(Pacific Northwest National Laboratory), Zachary Zappala(Broad Institute), Daryl Waggott(Cardiovascular Institute of the South), Sharayu Jangam(Baylor College of Medicine), Hayk Barseghyan(Children's National), Lindsay C. Burrage(Baylor College of Medicine), Gabriel F. Batzli, Erika Zink(Pacific Northwest National Laboratory), Bret L. Bostwick(Baylor College of Medicine), Devon Bonner, Matthew Brush(Oregon Health & Science University), David Bick(Medical College of Wisconsin), Anna Bican, Wan Hee Yoon(Oklahoma Medical Research Foundation), Alan H. Beggs(Boston Children's Hospital), Matthew Holmes(Wellcome Centre for Mitochondrial Research), Kévin Contrepois(Palo Alto University), Patrick Allard, Megan E. Grove(Cardiovascular Institute of the South), Chunli Zhao(University of Electronic Science and Technology of China), Cynthia M. Cooper, Babak Behnam(American University), Camille L. Birch, Shan Chen(Stanford Health Care), Young‐Mo Kim(Pacific Northwest National Laboratory), Donna M. Brown, Liliana Fernández(Stanford University), Mercedes E. Alejandro, Lauren C. Briere(Duke Medical Center), Jennefer N. Kohler(Stanford University), Braden Boone(HudsonAlpha Institute for Biotechnology), Annika M. Dries, Gary Clark, Yong Huang(Tokyo Medical and Dental University), Dianna G. Fisk(Stanford Health Care), Jean M. Davidson(California Polytechnic State University)
Cited by 107
Related Papers
The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements
|Nature Biotechnology|2006|2.2k
The mutational constraint spectrum quantified from variation in 141,456 humans
|bioRxiv (Cold Spring Harbor Laboratory)|2019|1.8k
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k