PMC Links for Books (Select 1459072) - PMC

Select item 88741511.

The genetic architecture of pediatric cardiomyopathy

Stephanie M. Ware, Surbhi Bhatnagar, Phillip J. Dexheimer, James D. Wilkinson, Arthi Sridhar, Xiao Fan, Yufeng Shen, Muhammad Tariq, Jeffrey A. Schubert, Steven D. Colan, Ling Shi, Charles E. Canter, Daphne T. Hsu, Neha Bansal, Steven A. Webber, Melanie D. Everitt, Paul F. Kantor, Joseph W. Rossano, Elfriede Pahl, Paolo Rusconi, Teresa M. Lee, Jeffrey A. Towbin, Ashwin K. Lal, Wendy K. Chung, Erin M. Miller, Bruce Aronow, Lisa J. Martin, Steven E. Lipshultz

Am J Hum Genet. 2022 Feb 3; 109(2): 282–298. Published online 2022 Jan 12. doi: 10.1016/j.ajhg.2021.12.006

PMCID:: PMC8874151

Abstract Article PDF–3.3M

Select item 82475492.

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger

Circulation. 2021 Jul 6; 144(1): 7–19. Published online 2021 May 5. doi: 10.1161/CIRCULATIONAHA.120.053033

PMCID:: PMC8247549

Abstract Article PDF–1.0M

Select item 82059963.

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros Domingo, Brittney Murray, Julia Cadrin-Tourigny, Ronald Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen

Circ Genom Precis Med. 2021 Jun; 14(3): e003273. Published online 2021 Apr 8. doi: 10.1161/CIRCGEN.120.003273

PMCID:: PMC8205996

Abstract Article PDF–934K

Select item 80709814.

Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

Ana Morales, Daniel D. Kinnamon, Elizabeth Jordan, Julia Platt, Matteo Vatta, Michael O. Dorschner, Carl Starkey, Jonathan Mead, Tomohiko Ai, Wylie Burke, Julie Gastier-Foster, Gail P. Jarvik, Heidi L. Rehm, Deborah A. Nickerson, Ray E. Hershberger

Circ Genom Precis Med. Author manuscript; available in PMC 2021 Apr 25.

Published in final edited form as: Circ Genom Precis Med. 2020 Apr; 13(2): e002480. Published online 2020 Mar 11. doi: 10.1161/CIRCGEN.119.002480

PMCID:: PMC8070981

Abstract Article PDF–275K

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 73609796.

Deletion of entire LMNA gene as a cause of cardiomyopathy

Allison L. Cirino, Sarah Cuddy, Neal K. Lakdawala

HeartRhythm Case Rep. 2020 Jul; 6(7): 395–397. Published online 2020 Mar 27. doi: 10.1016/j.hrcr.2020.03.008

PMCID:: PMC7360979

Article PDF–369K

Select item 70044547.

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Francesco Mazzarotto, Upasana Tayal, Rachel J. Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio de Marvao, Timothy J.W. Dawes, Leanne E. Felkin, Mian Ahmad, Pantazis I. Theotokis, Elizabeth Edwards, Alexander Y. Ing, Kate L. Thomson, Laura L.H. Chan, David Sim, A. John Baksi, Antonis Pantazis, Angharad M. Roberts, Hugh Watkins, Birgit Funke, Declan P. O’Regan, Iacopo Olivotto, Paul J.R. Barton, Sanjay K. Prasad, Stuart A. Cook, James S. Ware, Roddy Walsh

Circulation. 2020 Feb 4; 141(5): 387–398. Published online 2020 Jan 27. doi: 10.1161/CIRCULATIONAHA.119.037661

PMCID:: PMC7004454

Abstract Article PDF–912K

Select item 62944408.

Multigenic disease and bilineal inheritance in dilated cardiomyopathy is illustrated in non-segregating LMNA pedigrees

Jason R. Cowan, Daniel D. Kinnamon, Ana Morales, Lorien Salyer, Deborah A. Nickerson, Ray E. Hershberger

Circ Genom Precis Med. Author manuscript; available in PMC 2018 Dec 14.

Published in final edited form as: Circ Genom Precis Med. 2018 Jul; 11(7): e002038. doi: 10.1161/CIRCGEN.117.002038

PMCID:: PMC6294440

Abstract Article PDF–595K

Select item 47319259.

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

Abstract Article PDF–1.6M

Select item 449020310.

A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia

Guan-Sheng Liu, Ana Morales, Elizabeth Vafiadaki, Chi Keung Lam, Wen-Feng Cai, Kobra Haghighi, George Adly, Ray E. Hershberger, Evangelia G. Kranias

Cardiovasc Res. 2015 Jul 1; 107(1): 164–174. Published online 2015 Apr 7. doi: 10.1093/cvr/cvv127

PMCID:: PMC4490203

Abstract Article PDF–893K

Select item 393484311.

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

Pallavi Gupta, Zofia T. Bilinska, Nicolas Sylvius, Emilie Boudreau, John P. Veinot, Sarah Labib, Pierrette M. Bolongo, Akil Hamza, Tracy Jackson, Rafal Ploski, Michal Walski, Jacek Grzybowski, Ewa Walczak, Grzegorz Religa, Anna Fidzianska, Frédérique Tesson

Basic Res Cardiol. Author manuscript; available in PMC 2014 Feb 25.

Published in final edited form as: Basic Res Cardiol. 2010 May; 105(3): 365–377. Published online 2010 Feb 3. doi: 10.1007/s00395-010-0085-4

PMCID:: PMC3934843

Abstract Article PDF–1.0M

Select item 369931012.

Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy

Chad Brodt, Jill D. Siegfried, Mark Hofmeyer, Jose Martel, Evadnie Rampersaud, Duanxiang Li, Ana Morales, Ray E. Hershberger

J Card Fail. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: J Card Fail. 2013 Apr; 19(4): 233–239. doi: 10.1016/j.cardfail.2013.03.001

PMCID:: PMC3699310

Abstract Article PDF–423K

Select item 306128113.

Mitogen Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

Wei Wu, Antoine Muchir, Jian Shan, Gisèle Bonne, Howard J. Worman

Circulation. Author manuscript; available in PMC 2012 Jan 4.

Published in final edited form as: Circulation. 2011 Jan 4; 123(1): 53–61. Published online 2010 Dec 20. doi: 10.1161/CIRCULATIONAHA.110.970673

PMCID:: PMC3061281

Abstract Article PDF–740K

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