Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 4163G>T; Arg1388Leu
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: KMT2D: 4163G>T; Arg1388Leu
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
Publication Date: 2019
Variant appearance in text: KMT2D: 4163G>T; Arg1388Leu
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28
Variant appearance in text: KMT2D: 4163G>T; Arg1388Leu
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Plos Computational Biology
Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: KMT2D: 4163G>T; R1388L; rs202217665
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Genome Medicine
Li, Alexander H AH; Hanchard, Neil A NA; Furthner, Dieter D; Fernbach, Susan S; Azamian, Mahshid M; Nicosia, Annarita A; Rosenfeld, Jill J; Muzny, Donna D; D'Alessandro, Lisa C A LCA; Morris, Shaine S; Jhangiani, Shalini S; Parekh, Dhaval R DR; Franklin, Wayne J WJ; Lewin, Mark M; Towbin, Jeffrey A JA; Penny, Daniel J DJ; Fraser, Charles D CD; Martin, James F JF; Eng, Christine C; Lupski, James R JR; Gibbs, Richard A RA; Boerwinkle, Eric E; Belmont, John W JW
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Genome Medicine
Loviglio, Maria Nicla MN; Beck, Christine R CR; White, Janson J JJ; Leleu, Marion M; Harel, Tamar T; Guex, Nicolas N; Niknejad, Anne A; Bi, Weimin W; Chen, Edward S ES; Crespo, Isaac I; Yan, Jiong J; Charng, Wu-Lin WL; Gu, Shen S; Fang, Ping P; Coban-Akdemir, Zeynep Z; Shaw, Chad A CA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Rougemont, Jacques J; Xenarios, Ioannis I; Lupski, James R JR; Reymond, Alexandre A