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: MYBPC3: 1484G>A; Arg495Gln
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20
Variant appearance in text: MYBPC3: Arg495Gln; rs200411226
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Diagnostics (Basel, Switzerland)
Sepp, Róbert R; Hategan, Lidia L; Csányi, Beáta B; Borbás, János J; Tringer, Annamária A; Pálinkás, Eszter Dalma ED; Nagy, Viktória V; Takács, Hedvig H; Latinovics, Dóra D; Nyolczas, Noémi N; Pálinkás, Attila A; Faludi, Réka R; Rábai, Miklós M; Szabó, Gábor Tamás GT; Czuriga, Dániel D; Balogh, László L; Halmosi, Róbert R; Borbély, Attila A; Habon, Tamás T; Hegedűs, Zoltán Z; Nagy, István I
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
Iscience
Meier, Anna B AB; Raj Murthi, Sarala S; Rawat, Hilansi H; Toepfer, Christopher N CN; Santamaria, Gianluca G; Schmid, Manuel M; Mastantuono, Elisa E; Schwarzmayr, Thomas T; Berutti, Riccardo R; Cleuziou, Julie J; Ewert, Peter P; Görlach, Agnes A; Klingel, Karin K; Laugwitz, Karl-Ludwig KL; Seidman, Christine E CE; Seidman, Jonathan G JG; Moretti, Alessandra A; Wolf, Cordula M CM
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.
Molecular Genetics & Genomic Medicine
Filatova, Elena V EV; Krylova, Natalia S NS; Vlasov, Ivan N IN; Maslova, Maria S MS; Poteshkina, Natalia G NG; Slominsky, Petr A PA; Shadrina, Maria I MI
Publication Date: 2021-11
Variant appearance in text: MYBPC3: R495Q; rs200411226
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.
Molecular Genetics & Genomic Medicine
Filatova, Elena V EV; Krylova, Natalia S NS; Vlasov, Ivan N IN; Maslova, Maria S MS; Poteshkina, Natalia G NG; Slominsky, Petr A PA; Shadrina, Maria I MI
Publication Date: 2021-11
Variant appearance in text: MYBPC3: R495Q; rs200411226
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thompson, Andrea D AD; Helms, Adam S AS; Kannan, Anamika A; Yob, Jaime J; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Mazzarotto, Francesco F; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02
Variant appearance in text: MYBPC3: 1484G>A; R495Q
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln; rs200411226
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Circulation. Genomic And Precision Medicine
Harper, Andrew R AR; Bowman, Michael M; Hayesmoore, Jesse B G JBG; Sage, Helen H; Salatino, Silvia S; Blair, Edward E; Campbell, Carolyn C; Currie, Bethany B; Goel, Anuj A; McGuire, Karen K; Ormondroyd, Elizabeth E; Sergeant, Kate K; Waring, Adam A; Woodley, Jessica J; Kramer, Christopher M CM; Neubauer, Stefan S; Farrall, Martin M; Watkins, Hugh H; Thomson, Kate L KL; ,
Publication Date: 2020-06
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
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
Publication Date: 2019-09-04
Variant appearance in text: MYBPC3: 1484G>A; R495Q
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Circulation
Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP
Publication Date: 2019-07-16
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Genome Medicine
Walsh, Roddy R; Mazzarotto, Francesco F; Whiffin, Nicola N; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja A; Li, Nicholas N; Felkin, Leanne L; Ingold, Nathan N; Govind, Risha R; Ahmad, Mian M; Mazaika, Erica E; Allouba, Mona M; Zhang, Xiaolei X; de Marvao, Antonio A; Day, Sharlene M SM; Ashley, Euan E; Colan, Steven D SD; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Ho, Carolyn Y CY; Thomson, Kate L KL; Watkins, Hugh H; Barton, Paul J R PJR; Olivotto, Iacopo I; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2019-01-29
Variant appearance in text: MYBPC3: 1484G>A; R495Q
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln; rs200411226
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: MYBPC3: R495Q; rs200411226
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.
Circulation Research
Marian, Ali J AJ; Tan, Yanli Y; Li, Lili L; Chang, Jeffrey J; Syrris, Petros P; Hessabi, Manouchehr M; Rahbar, Mohammad H MH; Willerson, James T JT; Cheong, Benjamin Y BY; Liu, Chia-Ying CY; Kleiman, Neal S NS; Bluemke, David A DA; Nagueh, Sherif F SF
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
Arquivos Brasileiros De Cardiologia
Mattos, Beatriz Piva E BP; Scolari, Fernando Luís FL; Torres, Marco Antonio Rodrigues MA; Simon, Laura L; Freitas, Valéria Centeno de VC; Giugliani, Roberto R; Matte, Úrsula Ú
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
Circulation. Cardiovascular Genetics
Helms, Adam S AS; Davis, Frank M FM; Coleman, David D; Bartolone, Sarah N SN; Glazier, Amelia A AA; Pagani, Francis F; Yob, Jaime M JM; Sadayappan, Sakthivel S; Pedersen, Ellen E; Lyons, Robert R; Westfall, Margaret V MV; Jones, Richard R; Russell, Mark W MW; Day, Sharlene M SM
Interpreting secondary cardiac disease variants in an exome cohort.
Circulation. Cardiovascular Genetics
Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Singh, Larry N LN; Peller, Lindsey C LC; Wynter, Jamila S JS; Lewis, Katie L KL; Cooper, David N DN; Stenson, Peter D PD; Mullikin, James C JC; Biesecker, Leslie G LG; ,
Publication Date: 2013-08
Variant appearance in text: MYBPC3: 1484G>A; Arg495Gln
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
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
European Journal Of Human Genetics : Ejhg
Møller, Daniel Vega DV; Andersen, Paal Skytt PS; Hedley, Paula P; Ersbøll, Mads Kristian MK; Bundgaard, Henning H; Moolman-Smook, Johanna J; Christiansen, Michael M; Køber, Lars L
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
Bmc Medical Genetics
Ehlermann, Philipp P; Weichenhan, Dieter D; Zehelein, Jörg J; Steen, Henning H; Pribe, Regina R; Zeller, Raphael R; Lehrke, Stephanie S; Zugck, Christian C; Ivandic, Boris T BT; Katus, Hugo A HA
Publication Date: 2008-10-28
Variant appearance in text: MYBPC3: 1484G>A; R495Q
Shared genetic causes of cardiac hypertrophy in children and adults.
The New England Journal Of Medicine
Morita, Hiroyuki H; Rehm, Heidi L HL; Menesses, Andres A; McDonough, Barbara B; Roberts, Amy E AE; Kucherlapati, Raju R; Towbin, Jeffrey A JA; Seidman, J G JG; Seidman, Christine E CE