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: MYH7: 4066G>A; Glu1356Lys
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03
Variant appearance in text: MYH7: 4066G>A; Glu1356Lys; rs727503246
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: MYH7: Glu1356Lys; rs727503246
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21
Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
European Journal Of Human Genetics : Ejhg
Ormondroyd, Elizabeth E; Harper, Andrew R AR; Thomson, Kate L KL; Mackley, Michael P MP; Martin, Jennifer J; Penkett, Christopher J CJ; Salatino, Silvia S; Stark, Hannah H; Stephens, Jonathan J; Watkins, Hugh H
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
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: MYH7: 4066G>A; Glu1356Lys
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
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
Journal Of Molecular Biology
Parker, Francine F; Batchelor, Matthew M; Wolny, Marcin M; Hughes, Ruth R; Knight, Peter J PJ; Peckham, Michelle M
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B
Publication Date: 2018-03
Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Human Molecular Genetics
Viswanathan, Meera C MC; Tham, Rick C RC; Kronert, William A WA; Sarsoza, Floyd F; Trujillo, Adriana S AS; Cammarato, Anthony A; Bernstein, Sanford I SI
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.
The Journal Of Biological Chemistry
Wolny, Marcin M; Colegrave, Melanie M; Colman, Lucy L; White, Ed E; Knight, Peter J PJ; Peckham, Michelle M
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
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
Circulation. Heart Failure
Theis, Jeanne L JL; Bos, J Martijn JM; Theis, Jason D JD; Miller, Dylan V DV; Dearani, Joseph A JA; Schaff, Hartzell V HV; Gersh, Bernard J BJ; Ommen, Steve R SR; Moss, Richard L RL; Ackerman, Michael J MJ