Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: SCN5A: 647C>T; rs41276525
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Frontiers In Genetics
Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R
Publication Date: 2022
Variant appearance in text: SCN5A: S216L; rs41276525
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).
Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022
Variant appearance in text: SCN5A: Ser216Leu; rs41276525
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation.
Frontiers In Genetics
Shestak, Anna G AG; Makarov, Leonid M LM; Komoliatova, Vera N VN; Kolesnikova, Irina V IV; Skorodumova, Liubov O LO; Generozov, Edward V EV; Zaklyazminskaya, Elena V EV
Publication Date: 2021
Variant appearance in text: SCN5A: 647C>T; S216L; rs41276525
Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.
Channels (Austin, Tex.)
Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH
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
The role of sodium channels in sudden unexpected death in pediatrics.
Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.
European Journal Of Human Genetics : Ejhg
Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS
Publication Date: 2019-09
Variant appearance in text: SCN5A: Ser216Leu; rs41276525
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: SCN5A: S216L; rs41276525
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
International Journal Of Molecular Medicine
Zhao, Yue Y; Cao, Hong H; Song, Yindi Y; Feng, Yue Y; Ding, Xiaoxue X; Pang, Mingjie M; Zhang, Yunmei Y; Zhang, Hong H; Ding, Jiahuan J; Xia, Xueshan X
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Nunn, Laurence M LM; Lopes, Luis R LR; Syrris, Petros P; Murphy, Cian C; Plagnol, Vincent V; Firman, Eileen E; Dalageorgou, Chrysoula C; Zorio, Esther E; Domingo, Diana D; Murday, Victoria V; Findlay, Iain I; Duncan, Alexis A; Carr-White, Gerry G; Robert, Leema L; Bueser, Teofila T; Langman, Caroline C; Fynn, Simon P SP; Goddard, Martin M; White, Anne A; Bundgaard, Henning H; Ferrero-Miliani, Laura L; Wheeldon, Nigel N; Suvarna, Simon K SK; O'Beirne, Aliceson A; Lowe, Martin D MD; McKenna, William J WJ; Elliott, Perry M PM; Lambiase, Pier D PD
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
Plos One
Marston, Steven S; Montgiraud, Cecile C; Munster, Alex B AB; Copeland, O'Neal O; Choi, Onjee O; Dos Remedios, Cristobal C; Messer, Andrew E AE; Ehler, Elisabeth E; Knöll, Ralph R
Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.
Circulation. Cardiovascular Genetics
Weeke, Peter P; Denny, Joshua C JC; Basterache, Lisa L; Shaffer, Christian C; Bowton, Erica E; Ingram, Christie C; Darbar, Dawood D; Roden, Dan M DM
Brugada syndrome risk loci seem protective against atrial fibrillation.
European Journal Of Human Genetics : Ejhg
Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
European Journal Of Human Genetics : Ejhg
Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Journal Of The American College Of Cardiology
Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Journal Of The American College Of Cardiology
Crotti, Lia L; Marcou, Cherisse A CA; Tester, David J DJ; Castelletti, Silvia S; Giudicessi, John R JR; Torchio, Margherita M; Medeiros-Domingo, Argelia A; Simone, Savastano S; Will, Melissa L ML; Dagradi, Federica F; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.
Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Circulation. Cardiovascular Genetics
Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,
Publication Date: 2012-04-01
Variant appearance in text: SCN5A: Ser216Leu; rs41276525
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
Canadian Journal Of Physiology And Pharmacology
Calloe, Kirstine K; Schmitt, Nicole N; Grubb, Soren S; Pfeiffer, Ryan R; David, Jens-Peter JP; Kanter, Ronald R; Cordeiro, Jonathan M JM; Antzelevitch, Charles C
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Circulation
Darbar, Dawood D; Kannankeril, Prince J PJ; Donahue, Brian S BS; Kucera, Gayle G; Stubblefield, Tanya T; Haines, Jonathan L JL; George, Alfred L AL; Roden, Dan M DM