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: KCNQ1: 613G>A; Val205Met
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Journal Of The American Heart Association
Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Circulation. Genomic And Precision Medicine
Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
Scientific Reports
Synková, Iva I; Bébarová, Markéta M; Andršová, Irena I; Chmelikova, Larisa L; Švecová, Olga O; Hošek, Jan J; Pásek, Michal M; Vít, Pavel P; Valášková, Iveta I; Gaillyová, Renata R; Navrátil, Rostislav R; Novotný, Tomáš T
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
Frontiers In Pediatrics
D'Angelo, Carla S CS; Hermes, Azure A; McMaster, Christopher R CR; Prichep, Elissa E; Richer, Étienne É; van der Westhuizen, Francois H FH; Repetto, Gabriela M GM; Mengchun, Gong G; Malherbe, Helen H; Reichardt, Juergen K V JKV; Arbour, Laura L; Hudson, Maui M; du Plessis, Kelly K; Haendel, Melissa M; Wilcox, Phillip P; Lynch, Sally Ann SA; Rind, Shamir S; Easteal, Simon S; Estivill, Xavier X; Thomas, Yarlalu Y; Baynam, Gareth G
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Circulation. Genomic And Precision Medicine
Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.
Frontiers In Public Health
Caron, Nadine Rena NR; Chongo, Meck M; Hudson, Maui M; Arbour, Laura L; Wasserman, Wyeth W WW; Robertson, Stephen S; Correard, Solenne S; Wilcox, Phillip P
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
Journal Of The American Heart Association
Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM
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: KCNQ1: 613G>A; Val205Met; rs151344631
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
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Molecular Genetics & Genomic Medicine
Bdier, Amnah Y AY; Al-Ghamdi, Saleh S; Verma, Prashant K PK; Dagriri, Khalid K; Alshehri, Bandar B; Jiman, Omamah A OA; Ahmed, Sherif E SE; Wilde, Arthur A M AAM; Bhuiyan, Zahurul A ZA; Al-Aama, Jumana Y JY
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Journal Of Medical Genetics
Kapplinger, Jamie D JD; Erickson, Anders A; Asuri, Sirisha S; Tester, David J DJ; McIntosh, Sarah S; Kerr, Charles R CR; Morrison, Julie J; Tang, Anthony A; Sanatani, Shubhayan S; Arbour, Laura L; Ackerman, Michael J MJ
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Circulation. Cardiovascular Genetics
Swayne, Leigh Anne LA; Murphy, Nathaniel P NP; Asuri, Sirisha S; Chen, Lena L; Xu, Xiaoxue X; McIntosh, Sarah S; Wang, Chao C; Lancione, Peter J PJ; Roberts, Jason D JD; Kerr, Charles C; Sanatani, Shubhayan S; Sherwin, Elizabeth E; Kline, Crystal F CF; Zhang, Mingjie M; Mohler, Peter J PJ; Arbour, Laura T LT
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Science Translational Medicine
Natarajan, Pradeep P; Gold, Nina B NB; Bick, Alexander G AG; McLaughlin, Heather H; Kraft, Peter P; Rehm, Heidi L HL; Peloso, Gina M GM; Wilson, James G JG; Correa, Adolfo A; Seidman, Jonathan G JG; Seidman, Christine E CE; Kathiresan, Sekar S; Green, Robert C RC
Publication Date: 2016-11-09
Variant appearance in text: KCNQ1: 613G>A; Val205Met
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
The Journal Of General Physiology
Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D