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: 1207C>T; Arg403Trp
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: Arg403Trp; rs3218714
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Circulation
Lota, Amrit S AS; Hazebroek, Mark R MR; Theotokis, Pantazis P; Wassall, Rebecca R; Salmi, Sara S; Halliday, Brian P BP; Tayal, Upasana U; Verdonschot, Job J; Meena, Devendra D; Owen, Ruth R; de Marvao, Antonio A; Iacob, Alma A; Yazdani, Momina M; Hammersley, Daniel J DJ; Jones, Richard E RE; Wage, Riccardo R; Buchan, Rachel R; Vivian, Fredrik F; Hafouda, Yakeen Y; Noseda, Michela M; Gregson, John J; Mittal, Tarun T; Wong, Joyce J; Robertus, Jan Lukas JL; Baksi, A John AJ; Vassiliou, Vassilios V; Tzoulaki, Ioanna I; Pantazis, Antonis A; Cleland, John G F JGF; Barton, Paul J R PJR; Cook, Stuart A SA; Pennell, Dudley J DJ; Garcia-Pavia, Pablo P; Cooper, Leslie T LT; Heymans, Stephane S; Ware, James S JS; Prasad, Sanjay K SK
Publication Date: 2022-10-11
Variant appearance in text: MYH7: 1207C>T; Arg403Trp
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
An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.
Bmc Genomic Data
Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M
Publication Date: 2022-04-18
Variant appearance in text: MYH7: R403W; rs3218714
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
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02
Variant appearance in text: MYH7: 1207C>T; Arg403Trp
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25
Variant appearance in text: MYH7: 1207C>T; Arg403Trp
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: MYH7: 1207C>T; Arg403Trp
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: 1207C>T; Arg403Trp
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: 1207C>T; Arg403Trp
Regional myocardial function at preclinical disease stage of hypertrophic cardiomyopathy in female gene variant carriers.
The International Journal Of Cardiovascular Imaging
Parbhudayal, Rahana Y RY; Seegers, Celine C; Croisille, Pierre P; Clarysse, Patrick P; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J
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
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Journal Of Clinical Medicine
Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B
Publication Date: 2020-07-09
Variant appearance in text: MYH7: 1207C>T; Arg403Trp
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
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
The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.
The Journal Of General Physiology
Piroddi, Nicoletta N; Witjas-Paalberends, E Rosalie ER; Ferrara, Claudia C; Ferrantini, Cecilia C; Vitale, Giulia G; Scellini, Beatrice B; Wijnker, Paul J M PJM; Sequiera, Vasco V; Dooijes, Dennis D; Dos Remedios, Cristobal C; Schlossarek, Saskia S; Leung, Man Ching MC; Messer, Andrew A; Ward, Douglas G DG; Biggeri, Annibale A; Tesi, Chiara C; Carrier, Lucie L; Redwood, Charles S CS; Marston, Steven B SB; van der Velden, Jolanda J; Poggesi, Corrado C
CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy.
European Heart Journal
Mosqueira, Diogo D; Mannhardt, Ingra I; Bhagwan, Jamie R JR; Lis-Slimak, Katarzyna K; Katili, Puspita P; Scott, Elizabeth E; Hassan, Mustafa M; Prondzynski, Maksymilian M; Harmer, Stephen C SC; Tinker, Andrew A; Smith, James G W JGW; Carrier, Lucie L; Williams, Philip M PM; Gaffney, Daniel D; Eschenhagen, Thomas T; Hansen, Arne A; Denning, Chris C
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
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09
Variant appearance in text: MYH7: R403W; rs3218714
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
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
Journal Of Medical Genetics
Mook, Olaf R F OR; Haagmans, Martin A MA; Soucy, Jean-François JF; van de Meerakker, Judith B A JB; Baas, Frank F; Jakobs, Marja E ME; Hofman, Nynke N; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Mannens, Marcel M A M MM
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
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
Journal Of Cardiac Failure
Kindel, Steven J SJ; Miller, Erin M EM; Gupta, Resmi R; Cripe, Linda H LH; Hinton, Robert B RB; Spicer, Robert L RL; Towbin, Jeffrey A JA; Ware, Stephanie M SM
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
Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.
Cardiovascular Journal Of Africa
Revera, Miriam M; Van der Merwe, Lize L; Heradien, Marshall M; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Moolman-Smook, Johanna C JC
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
Journal Of Clinical Pathology
Yu, B B; Sawyer, N A NA; Caramins, M M; Yuan, Z G ZG; Saunderson, R B RB; Pamphlett, R R; Richmond, D R DR; Jeremy, R W RW; Trent, R J RJ