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: TTN: 107889del; Lys35963fs
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01
Variant appearance in text: TTN: 107889delA; Lys35963fs
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Publication Date: 2020-09
Variant appearance in text: TTN: 107889del; K35963Nfs*9
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Genes
Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P
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: TTN: 107889delA; Lys35963fs
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Neurology. Genetics
Välipakka, Salla S; Savarese, Marco M; Johari, Mridul M; Sagath, Lydia L; Arumilli, Meharji M; Kiiski, Kirsi K; Sáenz, Amets A; de Munain, Adolfo Lopez AL; Cobo, Ana-Maria AM; Pelin, Katarina K; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2017-12
Variant appearance in text: TTN: 107889delA; Lys35963Asnfs
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Annals Of Neurology
Oates, Emily C EC; Jones, Kristi J KJ; Donkervoort, Sandra S; Charlton, Amanda A; Brammah, Susan S; Smith, John E JE; Ware, James S JS; Yau, Kyle S KS; Swanson, Lindsay C LC; Whiffin, Nicola N; Peduto, Anthony J AJ; Bournazos, Adam A; Waddell, Leigh B LB; Farrar, Michelle A MA; Sampaio, Hugo A HA; Teoh, Hooi Ling HL; Lamont, Phillipa J PJ; Mowat, David D; Fitzsimons, Robin B RB; Corbett, Alastair J AJ; Ryan, Monique M MM; O'Grady, Gina L GL; Sandaradura, Sarah A SA; Ghaoui, Roula R; Joshi, Himanshu H; Marshall, Jamie L JL; Nolan, Melinda A MA; Kaur, Simranpreet S; Punetha, Jaya J; Töpf, Ana A; Harris, Elizabeth E; Bakshi, Madhura M; Genetti, Casie A CA; Marttila, Minttu M; Werlauff, Ulla U; Streichenberger, Nathalie N; Pestronk, Alan A; Mazanti, Ingrid I; Pinner, Jason R JR; Vuillerot, Carole C; Grosmann, Carla C; Camacho, Ana A; Mohassel, Payam P; Leach, Meganne E ME; Foley, A Reghan AR; Bharucha-Goebel, Diana D; Collins, James J; Connolly, Anne M AM; Gilbreath, Heather R HR; Iannaccone, Susan T ST; Castro, Diana D; Cummings, Beryl B BB; Webster, Richard I RI; Lazaro, Leïla L; Vissing, John J; Coppens, Sandra S; Deconinck, Nicolas N; Luk, Ho-Ming HM; Thomas, Neil H NH; Foulds, Nicola C NC; Illingworth, Marjorie A MA; Ellard, Sian S; McLean, Catriona A CA; Phadke, Rahul R; Ravenscroft, Gianina G; Witting, Nanna N; Hackman, Peter P; Richard, Isabelle I; Cooper, Sandra T ST; Kamsteeg, Erik-Jan EJ; Hoffman, Eric P EP; Bushby, Kate K; Straub, Volker V; Udd, Bjarne B; Ferreiro, Ana A; North, Kathryn N KN; Clarke, Nigel F NF; Lek, Monkol M; Beggs, Alan H AH; Bönnemann, Carsten G CG; MacArthur, Daniel G DG; Granzier, Henk H; Davis, Mark R MR; Laing, Nigel G NG