Identification of sequence changes in myosin II that adjust muscle contraction velocity.
Plos Biology
Johnson, Chloe A CA; McGreig, Jake E JE; Jeanfavre, Sarah T ST; Walklate, Jonathan J; Vera, Carlos D CD; Farré, Marta M; Mulvihill, Daniel P DP; Baines, Anthony J AJ; Ridout, Martin M; Leinwand, Leslie A LA; Wass, Mark N MN; Geeves, Michael A MA
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
Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.
Circulation. Heart Failure
Schuldt, Maike M; Pei, Jiayi J; Harakalova, Magdalena M; Dorsch, Larissa M LM; Schlossarek, Saskia S; Mokry, Michal M; Knol, Jaco C JC; Pham, Thang V TV; Schelfhorst, Tim T; Piersma, Sander R SR; Dos Remedios, Cris C; Dalinghaus, Michiel M; Michels, Michelle M; Asselbergs, Folkert W FW; Moutin, Marie-Jo MJ; Carrier, Lucie L; Jimenez, Connie R CR; van der Velden, Jolanda J; Kuster, Diederik W D DWD
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenatal Diagnosis
Corsten-Janssen, Nicole N; Bouman, Katelijne K; Diphoorn, Janouk C D JCD; Scheper, Arjen J AJ; Kinds, Rianne R; El Mecky, Julia J; Breet, Hanna H; Verheij, Joke B G M JBGM; Suijkerbuijk, Ron R; Duin, Leonie K LK; Manten, Gwendolyn T R GTR; van Langen, Irene M IM; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Westers, Helga H; van Diemen, Cleo C CC
Publication Date: 2020-09
Variant appearance in text: MYH7: 976G>C; Ala326Pro
Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.
Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.
Cells
Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J
Publication Date: 2019-07-18
Variant appearance in text: MYH7: 976G>C; Ala326Pro
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: 976G>C; Ala326Pro; rs372731424
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: 976G>C; Ala326Pro
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
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
European Journal Of Human Genetics : Ejhg
Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS