Borgione, Eugenia E; Lo Giudice, Mariangela M; Santa Paola, Sandro S; Giuliano, Marika M; Lanza, Giuseppe G; Cantone, Mariagiovanna M; Ferri, Raffaele R; Scuderi, Carmela C
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Jcsm Clinical Reports
Flickinger, Jean J; Fan, Jiaxin J; Wellik, Amanda A; Ganetzky, Rebecca R; Goldstein, Amy A; Muraresku, Colleen C CC; Glanzman, Allan M AM; Ballance, Elizabeth E; Leonhardt, Kristin K; McCormick, Elizabeth M EM; Soreth, Brianna B; Nguyen, Sara S; Gornish, Jennifer J; George-Sankoh, Ibrahim I; Peterson, James J; MacMullen, Laura E LE; Vishnubhatt, Shailee S; McBride, Michael M; Haas, Richard R; Falk, Marni J MJ; Xiao, Rui R; Zolkipli-Cunningham, Zarazuela Z
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
Brain : A Journal Of Neurology
Kullar, Peter J PJ; Quail, Jenna J; Lindsey, Phillip P; Wilson, Janet A JA; Horvath, Rita R; Yu-Wai-Man, Patrick P; Gorman, Grainne S GS; Taylor, Robert W RW; Ng, Yi Y; McFarland, Robert R; Moore, Brian C J BC; Chinnery, Patrick F PF
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: POLG: G737R; rs121918054
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Nucleic Acids Research
Euro, Liliya L; Farnum, Gregory A GA; Palin, Eino E; Suomalainen, Anu A; Kaguni, Laurie S LS