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: MYBPC3: 3181C>T; Gln1061Ter
Blood-based biomarkers for the prediction of hypertrophic cardiomyopathy prognosis: a systematic review and meta-analysis.
Esc Heart Failure
Jansen, Mark M; Algül, Sila S; Bosman, Laurens P LP; Michels, Michelle M; van der Velden, Jolanda J; de Boer, Rudolf A RA; van Tintelen, J Peter JP; Asselbergs, Folkert W FW; Baas, Annette F AF
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.
Open Heart
Christian, Susan S; Cirino, Allison A; Hansen, Brittany B; Harris, Stephanie S; Murad, Andrea M AM; Natoli, Jaime L JL; Malinowski, Jennifer J; Kelly, Melissa A MA
The Echocardiographic Parameters of Systolic Function Are Associated with Specific Metabolomic Fingerprints in Obstructive and Non-Obstructive Hypertrophic Cardiomyopathy.
Metabolites
Deidda, Martino M; Noto, Antonio A; Pasqualucci, Daniele D; Fattuoni, Claudia C; Barberini, Luigi L; Piras, Cristina C; Bassareo, Pier Paolo PP; Porcu, Maurizio M; Mercuro, Giuseppe G; Dessalvi, Christian Cadeddu CC
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: MYBPC3: 3181C>T; Gln1061*
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: MYBPC3: 3181C>T; Gln1061*
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
Publication Date: 2021-02
Variant appearance in text: MYBPC3: 3181C>T; Q1061X
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: 3181C>T; Gln1061*
CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation.
Scientific Reports
Tarkiainen, Mika M; Sipola, Petri P; Jalanko, Mikko M; Heliö, Tiina T; Jääskeläinen, Pertti P; Kivelä, Kati K; Laine, Mika M; Lauerma, Kirsi K; Kuusisto, Johanna J
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04
Variant appearance in text: MYBPC3: 3181C>T; Gln1061Ter
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: MYBPC3: 3181C>T; Gln1061X
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
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
American Journal Of Human Genetics
Whiffin, Nicola N; Roberts, Angharad M AM; Minikel, Eric E; Zappala, Zach Z; Walsh, Roddy R; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Harrison, Steven M SM; Thomson, Kate L KL; Sage, Helen H; Ing, Alexander Y AY; Barton, Paul J R PJR; Funke, Birgit B; Cook, Stuart A SA; MacArthur, Daniel G DG; Ware, James S JS
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: 3181C>T; Gln1061*
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Plos One
Vanninen, Sari U M SUM; Leivo, Krista K; Seppälä, Eija H EH; Aalto-Setälä, Katriina K; Pitkänen, Olli O; Suursalmi, Piia P; Annala, Antti-Pekka AP; Anttila, Ismo I; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Heliö, Tiina M TM; Koskenvuo, Juha W JW
Publication Date: 2018
Variant appearance in text: MYBPC3: 3181C>T; Gln1061*
Fibrosis and wall thickness affect ventricular repolarization dynamics in hypertrophic cardiomyopathy.
Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Jalanko, Mikko M; Väänänen, Heikki H; Tarkiainen, Mika M; Sipola, Petri P; Jääskeläinen, Pertti P; Lauerma, Kirsi K; Laitinen, Tiina T; Laitinen, Tomi T; Laine, Mika M; Heliö, Tiina T; Kuusisto, Johanna J; Viitasalo, Matti M
Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy.
Journal Of Cardiovascular Magnetic Resonance : Official Journal Of The Society For Cardiovascular Magnetic Resonance
Tarkiainen, Mika M; Sipola, Petri P; Jalanko, Mikko M; Heliö, Tiina T; Laine, Mika M; Järvinen, Vesa V; Häyrinen, Kaisu K; Lauerma, Kirsi K; Kuusisto, Johanna J
Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.
Stem Cells International
Ojala, Marisa M; Prajapati, Chandra C; Pölönen, Risto-Pekka RP; Rajala, Kristiina K; Pekkanen-Mattila, Mari M; Rasku, Jyrki J; Larsson, Kim K; Aalto-Setälä, Katriina K
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.
Plos One
Jørgenrud, Benedicte B; Jalanko, Mikko M; Heliö, Tiina T; Jääskeläinen, Pertti P; Laine, Mika M; Hilvo, Mika M; Nieminen, Markku S MS; Laakso, Markku M; Hyötyläinen, Tuulia T; Orešič, Matej M; Kuusisto, Johanna J
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Bmc Medical Genetics
Teirlinck, Carolien H CH; Senni, Faïza F; Malti, Rajae El RE; Majoor-Krakauer, Danielle D; Fellmann, Florence F; Millat, Gilles G; André-Fouët, Xavier X; Pernot, François F; Stumpf, Michaël M; Boutarin, Jean J; Bouvagnet, Patrice P
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
Circulation Research
Saltzman, Adam J AJ; Mancini-DiNardo, Debora D; Li, Chumei C; Chung, Wendy K WK; Ho, Carolyn Y CY; Hurst, Stephanie S; Wynn, Julia J; Care, Melanie M; Hamilton, Robert M RM; Seidman, Gregor W GW; Gorham, Joshua J; McDonough, Barbara B; Sparks, Elizabeth E; Seidman, J G JG; Seidman, Christine E CE; Rehm, Heidi L HL