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Items: 10

1.
Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
RAY E. HERSHBERGER, MICHAEL M. GIVERTZ, CAROLYN Y. HO, DANIEL P. JUDGE, PAUL F. KANTOR, KIM L. MCBRIDE, ANA MORALES, MATTHEW R.G. TAYLOR, MATTEO VATTA, STEPHANIE M. WARE
J Card Fail. Author manuscript; available in PMC 2023 Feb 7.
Published in final edited form as: J Card Fail. 2018 May; 24(5): 281–302. Published online 2018 Mar 19. doi: 10.1016/j.cardfail.2018.03.004
PMCID:
PMC9903357
AbstractArticlePDF–446K
2.
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers
Massimiliano Lorenzini, Gabrielle Norrish, Ella Field, Juan Pablo Ochoa, Marcos Cicerchia, Mohammed M. Akhtar, Petros Syrris, Luis R. Lopes, Juan Pablo Kaski, Perry M. Elliott
J Am Coll Cardiol. 2020 Aug 4; 76(5): 550–559. doi: 10.1016/j.jacc.2020.06.011
PMCID:
PMC7397507
AbstractArticle
3.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Jodie Ingles, Jennifer Goldstein, Courtney Thaxton, Colleen Caleshu, Edward W. Corty, Stephanie B. Crowley, Kristen Dougherty, Steven M. Harrison, Jennifer McGlaughon, Laura V. Milko, Ana Morales, Bryce A. Seifert, Natasha Strande, Kate Thomson, J. Peter van Tintelen, Kathleen Wallace, Roddy Walsh, Quinn Wells, Nicola Whiffin, Leora Witkowski, Christopher Semsarian, James S. Ware, Ray E. Hershberger, Birgit Funke
Circ Genom Precis Med. 2019 Feb; 12(2): e002460. Published online 2019 Feb 19. doi: 10.1161/CIRCGEN.119.002460
PMCID:
PMC6410971
AbstractArticlePDF–327K
4.
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Carolyn Y. Ho, Sharlene M. Day, Euan A. Ashley, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Allison L. Cirino, Jonathan C. Fox, Neal K. Lakdawala, James S. Ware, Colleen A. Caleshu, Adam S. Helms, Steven D. Colan, Francesca Girolami, Franco Cecchi, Christine E. Seidman, Gautam Sajeev, James Signorovitch, Eric M. Green, Iacopo Olivotto
Circulation. 2018 Oct 2; 138(14): 1387–1398. Published online 2018 Oct 1. doi: 10.1161/CIRCULATIONAHA.117.033200
PMCID:
PMC6170149
AbstractArticlePDF–1.2M
5.
A Comparison of Whole Genome Sequencing to Multi-Gene Panel Testing in Hypertrophic Cardiomyopathy Patients
Allison L. Cirino, Neal K. Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O’Gara, Heidi L. Rehm, Kalotina Machini, Matthew Lebo, Carrie Blout, Robert C. Green, Calum A. MacRae, Christine E. Seidman, Carolyn Y. Ho, for the MedSeq Project
Circ Cardiovasc Genet. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Circ Cardiovasc Genet. 2017 Oct; 10(5): e001768. doi: 10.1161/CIRCGENETICS.117.001768
PMCID:
PMC5683423
AbstractArticlePDF–435K
6.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
7.
Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients with Hypertrophic Cardiomyopathy
J. Martijn Bos, Melissa L. Will, Bernard J. Gersh, Teresa M. Kruisselbrink, Steve R. Ommen, Michael J. Ackerman
Mayo Clin Proc. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: Mayo Clin Proc. 2014 Jun; 89(6): 727–737. Published online 2014 May 1. doi: 10.1016/j.mayocp.2014.01.025
PMCID:
PMC4234122
AbstractArticlePDF–709K
8.
Tissue Doppler Imaging Consistently Detects Myocardial Abnormalities in Patients With Hypertrophic Cardiomyopathy and Provides a Novel Means for an Early Diagnosis Before and Independently of Hypertrophy
Sherif F. Nagueh, Linda L. Bachinski, Denise Meyer, Rita Hill, William A. Zoghbi, James W. Tam, Miguel A. Quiñones, Robert Roberts, A.J. Marian
Circulation. Author manuscript; available in PMC 2010 Jul 9.
Published in final edited form as: Circulation. 2001 Jul 10; 104(2): 128–130. doi: 10.1161/01.cir.104.2.128
PMCID:
PMC2900859
AbstractArticlePDF–63K
9.
The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
William E. Tidyman, Katherine A. Rauen
Curr Opin Genet Dev. Author manuscript; available in PMC 2010 Jun 1.
Published in final edited form as: Curr Opin Genet Dev. 2009 Jun; 19(3): 230–236. Published online 2009 May 19. doi: 10.1016/j.gde.2009.04.001
PMCID:
PMC2743116
AbstractArticlePDF–415K
10.
First description of germline mosaicism in familial hypertrophic cardiomyopathy
J. Forissier, P. Richard, S. Briault, C. Ledeuil, O. Dubourg, B. Charbonnier, L. Carrier, C. Moraine, G. Bonne, M. Komajda, K. Schwartz, B. Hainque
J Med Genet. 2000 Feb; 37(2): 132–134. doi: 10.1136/jmg.37.2.132
PMCID:
PMC1734529
SummaryPDF–117K

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