An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
Adler, Arnon A; Novelli, Valeria V; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Nannenberg, Eline A EA; Feilotter, Harriet H; Amenta, Simona S; Mazza, Daniela D; Bikker, Hennie H; Sturm, Amy C AC; Garcia, John J; Ackerman, Michael J MJ; Hershberger, Raymond E RE; Perez, Marco V MV; Zareba, Wojciech W; Ware, James S JS; Wilde, Arthur A M AAM; Gollob, Michael H MH
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
The Journal Of Clinical Investigation
Roberts, Jason D JD; Murphy, Nathaniel P NP; Hamilton, Robert M RM; Lubbers, Ellen R ER; James, Cynthia A CA; Kline, Crystal F CF; Gollob, Michael H MH; Krahn, Andrew D AD; Sturm, Amy C AC; Musa, Hassan H; El-Refaey, Mona M; Koenig, Sara S; Aneq, Meriam Åström MÅ; Hoorntje, Edgar T ET; Graw, Sharon L SL; Davies, Robert W RW; Rafiq, Muhammad Arshad MA; Koopmann, Tamara T TT; Aafaqi, Shabana S; Fatah, Meena M; Chiasson, David A DA; Taylor, Matthew Rg MR; Simmons, Samantha L SL; Han, Mei M; van Opbergen, Chantal Jm CJ; Wold, Loren E LE; Sinagra, Gianfranco G; Mittal, Kirti K; Tichnell, Crystal C; Murray, Brittney B; Codima, Alberto A; Nazer, Babak B; Nguyen, Duy T DT; Marcus, Frank I FI; Sobriera, Nara N; Lodder, Elisabeth M EM; van den Berg, Maarten P MP; Spears, Danna A DA; Robinson, John F JF; Ursell, Philip C PC; Green, Anna K AK; Skanes, Allan C AC; Tang, Anthony S AS; Gardner, Martin J MJ; Hegele, Robert A RA; van Veen, Toon Ab TA; Wilde, Arthur Am AA; Healey, Jeff S JS; Janssen, Paul Ml PM; Mestroni, Luisa L; van Tintelen, J Peter JP; Calkins, Hugh H; Judge, Daniel P DP; Hund, Thomas J TJ; Scheinman, Melvin M MM; Mohler, Peter J PJ
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
Publication Date: 2019-02-07
Variant appearance in text: ANK2: E1458G; rs72544141
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
Reuter, Miriam S MS; Walker, Susan S; Thiruvahindrapuram, Bhooma B; Whitney, Joe J; Cohn, Iris I; Sondheimer, Neal N; Yuen, Ryan K C RKC; Trost, Brett B; Paton, Tara A TA; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Wintle, Richard F RF; Merico, Daniele D; Howe, Jennifer J; MacDonald, Jeffrey R JR; Lu, Chao C; Nalpathamkalam, Thomas T; Sung, Wilson W L WWL; Wang, Zhuozhi Z; Patel, Rohan V RV; Pellecchia, Giovanna G; Wei, John J; Strug, Lisa J LJ; Bell, Sherilyn S; Kellam, Barbara B; Mahtani, Melanie M MM; Bassett, Anne S AS; Bombard, Yvonne Y; Weksberg, Rosanna R; Shuman, Cheryl C; Cohn, Ronald D RD; Stavropoulos, Dimitri J DJ; Bowdin, Sarah S; Hildebrandt, Matthew R MR; Wei, Wei W; Romm, Asli A; Pasceri, Peter P; Ellis, James J; Ray, Peter P; Meyn, M Stephen MS; Monfared, Nasim N; Hosseini, S Mohsen SM; Joseph-George, Ann M AM; Keeley, Fred W FW; Cook, Ryan A RA; Fiume, Marc M; Lee, Hin C HC; Marshall, Christian R CR; Davies, Jill J; Hazell, Allison A; Buchanan, Janet A JA; Szego, Michael J MJ; Scherer, Stephen W SW
Publication Date: 2018-02-05
Variant appearance in text: ANK2: 4373A>G; Glu1458Gly
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Annals Of Internal Medicine
Vassy, Jason L JL; Christensen, Kurt D KD; Schonman, Erica F EF; Blout, Carrie L CL; Robinson, Jill O JO; Krier, Joel B JB; Diamond, Pamela M PM; Lebo, Matthew M; Machini, Kalotina K; Azzariti, Danielle R DR; Dukhovny, Dmitry D; Bates, David W DW; MacRae, Calum A CA; Murray, Michael F MF; Rehm, Heidi L HL; McGuire, Amy L AL; Green, Robert C RC; ,
Publication Date: 2017-08-01
Variant appearance in text: ANK2: 4373A>G; Glu1458Gly
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2017-05-30
Variant appearance in text: ANK2: 4373A>G; Glu1458Gly
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22
Variant appearance in text: ANK2: 4373A>G; E1458G; rs72544141
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: ANK2: 4373A>G; E1458G; rs72544141
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
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: ANK2: E1458G; rs72544141
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM