Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Molecular Neurobiology
Maksemous, Neven N; Harder, Aster V E AVE; Ibrahim, Omar O; Vijfhuizen, Lisanne S LS; Sutherland, Heidi H; Pelzer, Nadine N; de Boer, Irene I; Terwindt, Gisela M GM; Lea, Rodney A RA; van den Maagdenberg, Arn M J M AMJM; Griffiths, Lyn R LR
Publication Date: 2023-02-14
Variant appearance in text: CACNA1C: 2449C>T; Pro817Ser; rs112532048
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; ,
Publication Date: 2022-12-01
Variant appearance in text: CACNA1C: P817S; rs112532048
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: CACNA1C: 2449C>T; rs112532048
Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.
Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02
Variant appearance in text: CACNA1C: 2449C>T; Pro817Ser; rs112532048
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
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
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.
Plos One
Allegue, Catarina C; Coll, Mònica M; Mates, Jesus J; Campuzano, Oscar O; Iglesias, Anna A; Sobrino, Beatriz B; Brion, Maria M; Amigo, Jorge J; Carracedo, Angel A; Brugada, Pedro P; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2015
Variant appearance in text: CACNA1C: 2449C>T; rs112532048
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
International Journal Of Cardiology
Hu, Dan D; Barajas-Martínez, Hector H; Terzic, Andre A; Park, Sungjo S; Pfeiffer, Ryan R; Burashnikov, Elena E; Wu, Yuesheng Y; Borggrefe, Martin M; Veltmann, Christian C; Schimpf, Rainer R; Cai, John J JJ; Nam, Gi-Byong GB; Deshmukh, Pramod P; Scheinman, Melvin M; Preminger, Mark M; Steinberg, Jonathan J; López-Izquierdo, Angélica A; Ponce-Balbuena, Daniela D; Wolpert, Christian C; Haïssaguerre, Michel M; Sánchez-Chapula, José Antonio JA; Antzelevitch, Charles C
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
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
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
Heart Rhythm
Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C