Publication PMID: 29478781

Oláhová M*, Yoon WH*, Thompson K*, Jangam S, Fernandez-Betancourt, EL , Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler J, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller D, Metz TO, Morris AA, McFarland R, Schelley S, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet 102:494-504, 2018 Mar, PMID: 29478781, PMCID: PMC6117612