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: 2389G>A; Ala797Thr
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: Ala797Thr; rs3218716
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
Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function.
Elife
Morck, Makenna M MM; Bhowmik, Debanjan D; Pathak, Divya D; Dawood, Aminah A; Spudich, James J; Ruppel, Kathleen M KM
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Journal Of The American Heart Association
Hughes, Rebecca K RK; Camaioni, Claudia C; Augusto, João B JB; Knott, Kristopher K; Quinn, Ellie E; Captur, Gabriella G; Seraphim, Andreas A; Joy, George G; Syrris, Petros P; Elliott, Perry M PM; Mohiddin, Saidi S; Kellman, Peter P; Xue, Hui H; Lopes, Luis R LR; Moon, James C JC
Publication Date: 2021-08-03
Variant appearance in text: MYH7: 2389G>A; Ala797Thr
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Journal Of The American Heart Association
Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM
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: MYH7: 2389G>A; Ala797Thr
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
Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.
Diagnostics (Basel, Switzerland)
Micheu, Miruna Mihaela MM; Popa-Fotea, Nicoleta-Monica NM; Oprescu, Nicoleta N; Bogdan, Stefan S; Dan, Monica M; Deaconu, Alexandru A; Dorobantu, Lucian L; Gheorghe-Fronea, Oana O; Greavu, Maria M; Iorgulescu, Corneliu C; Scafa-Udriste, Alexandru A; Ticulescu, Razvan R; Vatasescu, Radu Gabriel RG; Dorobanțu, Maria M
Publication Date: 2020-12-07
Variant appearance in text: MYH7: 2389G>A; Ala797Thr; rs3218716
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
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: MYH7: 2389G>A; Ala797Thr; rs3218716
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Circulation. Genomic And Precision Medicine
Pua, Chee Jian CJ; Tham, Nevin N; Chin, Calvin W L CWL; Walsh, Roddy R; Khor, Chiea Chuen CC; Toepfer, Christopher N CN; Repetti, Giuliana G GG; Garfinkel, Amanda C AC; Ewoldt, Jourdan F JF; Cloonan, Paige P; Chen, Christopher S CS; Lim, Shi Qi SQ; Cai, Jiashen J; Loo, Li Yang LY; Kong, Siew Ching SC; Chiang, Charleston W K CWK; Whiffin, Nicola N; de Marvao, Antonio A; Lio, Pei Min PM; Hii, An An AA; Yang, Cheng Xi CX; Le, Thu Thao TT; Bylstra, Yasmin Y; Lim, Weng Khong WK; Teo, Jing Xian JX; Padilha, Kallyandra K; Silva, Gabriela V GV; Pan, Bangfen B; Govind, Risha R; Buchan, Rachel J RJ; Barton, Paul J R PJR; Tan, Patrick P; Foo, Roger R; Yip, James W L JWL; Wong, Raymond C C RCC; Chan, Wan Xian WX; Pereira, Alexandre C AC; Tang, Hak Chiaw HC; Jamuar, Saumya Shekhar SS; Ware, James S JS; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
American Journal Of Medical Genetics. Part A
Coban-Akdemir, Zeynep H ZH; Charng, Wu-Lin WL; Azamian, Mahshid M; Paine, Ingrid S IS; Punetha, Jaya J; Grochowski, Christopher M CM; Gambin, Tomasz T; Valdes, Santiago O SO; Cannon, Bryan B; Zapata, Gladys G; Hernandez, Patricia P PP; Jhangiani, Shalini S; Doddapaneni, Harsha H; Hu, Jianhong J; Boricha, Fatima F; Muzny, Donna M DM; Boerwinkle, Eric E; Yang, Yaping Y; Gibbs, Richard A RA; Posey, Jennifer E JE; Wehrens, Xander H T XHT; Belmont, John W JW; Kim, Jeffrey J JJ; Miyake, Christina Y CY; Lupski, James R JR; Lalani, Seema R SR
Publication Date: 2020-06
Variant appearance in text: MYH7: 2389G>A; Ala797Thr
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Circulation
Marstrand, Peter P; Han, Larry L; Day, Sharlene M SM; Olivotto, Iacopo I; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Wittekind, Samuel G SG; Helms, Adam A; Saberi, Sara S; Jacoby, Daniel D; Ware, James S JS; Colan, Steven D SD; Semsarian, Christopher C; Ingles, Jodie J; Lakdawala, Neal K NK; Ho, Carolyn Y CY; ,
Publication Date: 2020-04-28
Variant appearance in text: MYH7: 2389G>A; Ala797Thr
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: MYH7: 2389G>A; Ala797Thr
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: MYH7: 2389G>A; Ala797Thr; rs3218716
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: MYH7: 2389G>A; Ala797Thr
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harbor Molecular Case Studies
Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X
Publication Date: 2019-04
Variant appearance in text: MYH7: 2389G>A; Ala797Thr
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
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: MYH7: 2389G>A; Ala797Thr
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van der Linde, I H M IHM; Hiemstra, Y L YL; Bökenkamp, R R; van Mil, A M AM; Breuning, M H MH; Ruivenkamp, C C; Ten Broeke, S W SW; Veldkamp, R F RF; van Waning, J I JI; van Slegtenhorst, M A MA; van Spaendonck-Zwarts, K Y KY; Lekanne Deprez, R H RH; Herkert, J C JC; Boven, L L; van der Zwaag, P A PA; Jongbloed, J D H JDH; Bootsma, M M; Barge-Schaapveld, D Q C M DQCM
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
Publication Date: 2017
Variant appearance in text: MYH7: 2389G>A; A797T; rs3218716
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Science Translational Medicine
Natarajan, Pradeep P; Gold, Nina B NB; Bick, Alexander G AG; McLaughlin, Heather H; Kraft, Peter P; Rehm, Heidi L HL; Peloso, Gina M GM; Wilson, James G JG; Correa, Adolfo A; Seidman, Jonathan G JG; Seidman, Christine E CE; Kathiresan, Sekar S; Green, Robert C RC
Publication Date: 2016-11-09
Variant appearance in text: MYH7: 2389G>A; Ala797Thr
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
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
Journal Of Cardiovascular Translational Research
Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.
Heart Rhythm
Heradien, Marshall M; Revera, Miriam M; van der Merwe, Lize L; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Mayosi, Bongani M BM; Moolman-Smook, Johanna C JC
Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.
Human Genetics
van der Merwe, Lize L; Cloete, Ruben R; Revera, Miriam M; Heradien, Marshall M; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Moolman-Smook, Johanna C JC