Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: MYH7: 5533C>T; Arg1845Trp
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MYH7: 5533C>T; Arg1845Trp; rs28933098
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Orphanet Journal Of Rare Diseases
Harris, Elizabeth E; Topf, Ana A; Barresi, Rita R; Hudson, Judith J; Powell, Helen H; Tellez, James J; Hicks, Debbie D; Porter, Anna A; Bertoli, Marta M; Evangelista, Teresinha T; Marini-Betollo, Chiara C; Magnússon, Ólafur Ó; Lek, Monkol M; MacArthur, Daniel D; Bushby, Kate K; Lochmüller, Hanns H; Straub, Volker V
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
American Journal Of Human Genetics
Quinzii, Catarina M CM; Vu, Tuan H TH; Min, K Christopher KC; Tanji, Kurenai K; Barral, Sandra S; Grewal, Raji P RP; Kattah, Andrea A; Camaño, Pilir P; Otaegui, David D; Kunimatsu, Teruhito T; Blake, David M DM; Wilhelmsen, Kirk C KC; Rowland, Lewis P LP; Hays, Arthur P AP; Bonilla, Eduardo E; Hirano, Michio M