Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.
Frontiers In Cell And Developmental Biology
Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020
Variant appearance in text: MYBPC3: 495G>C; Glu165Asp
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; 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; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10
Variant appearance in text: MYBPC3: 495G>C; Glu165Asp
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: MYBPC3: 495G>C; rs730880619
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
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: 495G>C; Glu165Asp
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
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
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: 495G>C; Glu165Asp
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
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Nature Genetics
Wang, Xia X; Charng, Wu-Lin WL; Chen, Chun-An CA; Rosenfeld, Jill A JA; Al Shamsi, Aisha A; Al-Gazali, Lihadh L; McGuire, Marianne M; Mew, Nicholas Ah NA; Arnold, Georgianne L GL; Qu, Chunjing C; Ding, Yan Y; Muzny, Donna M DM; Gibbs, Richard A RA; Eng, Christine M CM; Walkiewicz, Magdalena M; Xia, Fan F; Plon, Sharon E SE; Lupski, James R JR; Schaaf, Christian P CP; Yang, Yaping Y