Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy: A Personal HistoryCirculation research, 2011-03, Vol.108 (6), p.743-750 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.223834 ;PMID: 21415408 ;CODEN: CIRUALFull text available |
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2 |
Material Type: Article
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Understanding Cardiomyopathy Phenotypes Based on the Functional Impact of Mutations in the Myosin MotorCirculation research, 2012-07, Vol.111 (3), p.375-385 [Peer Reviewed Journal]2012 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.223842 ;PMID: 22821910 ;CODEN: CIRUALFull text available |
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3 |
Material Type: Article
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In the Thick of It: HCM-Causing Mutations in Myosin Binding Proteins of the Thick FilamentCirculation research, 2011-03, Vol.108 (6), p.751-764 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.231670 ;PMID: 21415409 ;CODEN: CIRUALFull text available |
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4 |
Material Type: Article
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Thin Filament Mutations: Developing an Integrative Approach to a Complex DisorderCirculation research, 2011-03, Vol.108 (6), p.765-782 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.224170 ;PMID: 21415410 ;CODEN: CIRUALFull text available |
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5 |
Material Type: Article
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Genetic Basis of Atherosclerosis: Insights From Mice and HumansCirculation research, 2012-01, Vol.110 (2), p.337-355 [Peer Reviewed Journal]2012 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.230854 ;PMID: 22267839 ;CODEN: CIRUALFull text available |
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6 |
Material Type: Article
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Cardiovascular PharmacogenomicsCirculation research, 2011-09, Vol.109 (7), p.807-820 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.230995 ;PMID: 21921273 ;CODEN: CIRUALFull text available |
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7 |
Material Type: Article
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The mutational constraint spectrum quantified from variation in 141,456 humansNature (London), 2020-05, Vol.581 (7809), p.434-443 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2020 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2020 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-020-2308-7 ;PMID: 32461654Full text available |
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8 |
Material Type: Article
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Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic CardiomyopathyCirculation (New York, N.Y.), 2020-03, Vol.141 (10), p.828-842 [Peer Reviewed Journal]2020 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;2020 The Authors. 2020 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.119.042339 ;PMID: 31983222Full text available |
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9 |
Material Type: Article
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Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studiesGenetics in medicine, 2017-03, Vol.19 (3), p.283-293 [Peer Reviewed Journal]2017 The Author(s) ;Copyright Nature Publishing Group Mar 2017 ;Copyright © 2017 The Author(s) 2017 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.109 ;PMID: 27584911Full text available |
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10 |
Material Type: Article
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Analysis of protein-coding genetic variation in 60,706 humansNature (London), 2016-08, Vol.536 (7616), p.285-291 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Aug 18, 2016 ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/nature19057 ;PMID: 27535533 ;CODEN: NATUASFull text available |
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11 |
Material Type: Article
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Genetic Cardiomyopathies Causing Heart FailureCirculation research, 2013-08, Vol.113 (6), p.660-675 [Peer Reviewed Journal]2013 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.113.300282 ;PMID: 23989711Full text available |
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12 |
Material Type: Article
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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular riskNature genetics, 2017-03, Vol.49 (3), p.403-415 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2017 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3768 ;PMID: 28135244Full text available |
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13 |
Material Type: Article
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Disease Pathways and Novel Therapeutic Targets in Hypertrophic CardiomyopathyCirculation research, 2011-06, Vol.109 (1), p.86-96 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.111.242974 ;PMID: 21700950 ;CODEN: CIRUALFull text available |
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14 |
Material Type: Article
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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe HypercholesterolemiaJournal of the American College of Cardiology, 2016-06, Vol.67 (22), p.2578-2589 [Peer Reviewed Journal]American College of Cardiology Foundation ;2016 American College of Cardiology Foundation ;Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Jun 7, 2016 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2016.03.520 ;PMID: 27050191Full text available |
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15 |
Material Type: Article
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genesEuropean heart journal, 2017-12, Vol.38 (46), p.3461-3468 [Peer Reviewed Journal]The Author 2017. Published by Oxford University Press on behalf of the European Society of Cardiology. ;The Author 2017. Published by Oxford University Press on behalf of the European Society of Cardiology. 2016 ;ISSN: 0195-668X ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehw603 ;PMID: 28082330Full text available |
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16 |
Material Type: Article
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenIntensive care medicine, 2019-05, Vol.45 (5), p.627-636 [Peer Reviewed Journal]The Author(s) 2019 ;COPYRIGHT 2019 Springer ;Intensive Care Medicine is a copyright of Springer, (2019). All Rights Reserved. © 2019. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0342-4642 ;EISSN: 1432-1238 ;DOI: 10.1007/s00134-019-05552-x ;PMID: 30847515Full text available |
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17 |
Material Type: Article
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelGenetics in medicine, 2018-03, Vol.20 (3), p.351-359 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2018 ;Copyright © 2018 The Author(s) 2018 The Author(s) ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.218 ;PMID: 29300372Full text available |
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18 |
Material Type: Article
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Toward Replacing Late Gadolinium Enhancement With Artificial Intelligence Virtual Native Enhancement for Gadolinium-Free Cardiovascular Magnetic Resonance Tissue Characterization in Hypertrophic CardiomyopathyCirculation (New York, N.Y.), 2021-08, Vol.144 (8), p.589-599 [Peer Reviewed Journal]2021 The Authors. 2021 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.121.054432 ;PMID: 34229451Full text available |
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19 |
Material Type: Article
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Reevaluating the Genetic Contribution of Monogenic Dilated CardiomyopathyCirculation (New York, N.Y.), 2020-02, Vol.141 (5), p.387-398 [Peer Reviewed Journal]2020 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;2020 The Authors. 2020 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.119.037661 ;PMID: 31983221Full text available |
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20 |
Material Type: Article
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The Genomic Architecture of Sporadic Heart FailureCirculation research, 2011-05, Vol.108 (10), p.1270-1283 [Peer Reviewed Journal]2011 American Heart Association, Inc. ;2015 INIST-CNRS ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.110.229260 ;PMID: 21566223 ;CODEN: CIRUALFull text available |