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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh, Kate L Thomson, James S Ware, et al.
European Heart Journal
|
January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Roddy Walsh, Rachel Buchan, Alicja Wilk, et al.
European Heart Journal
|
July 11, 2023
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
Mona Allouba, Roddy Walsh, Alaa Afify, et al.
Journal of Cardiovascular Translational Research
|
February 19, 2016
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes
Chee Jian Pua, Jaydutt Bhalshankar, Kui Miao, et al.
American Journal of Human Genetics
|
January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Nicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
European Heart Journal
|
September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>
Gillian Rea, Tessa Homfray, Jan Till, et al.
European Journal of Heart Failure
|
December 30, 2021
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)
Rudolf A de Boer, Stephane Heymans, Johannes Backs, et al.
Journal of the American College of Cardiology
|
October 28, 2017
Phenotype and Clinical Outcomes of Titin Cardiomyopathy
Upasana Tayal, Simon Newsome, Rachel Buchan, et al.
Circulation
|
August 30, 2021
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
Yasmine Aguib, Mona Allouba, Roddy Walsh, et al.
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of 9
Search research articles
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Showing results (41-50 of 89) with videos related to
Sort By:
Page
of 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh, Kate L Thomson, James S Ware, et al.
European Heart Journal
|
January 14, 2017
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Roddy Walsh, Rachel Buchan, Alicja Wilk, et al.
European Heart Journal
|
July 11, 2023
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
Mona Allouba, Roddy Walsh, Alaa Afify, et al.
Journal of Cardiovascular Translational Research
|
February 19, 2016
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes
Chee Jian Pua, Jaydutt Bhalshankar, Kui Miao, et al.
American Journal of Human Genetics
|
January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Nicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
European Heart Journal
|
September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>
Gillian Rea, Tessa Homfray, Jan Till, et al.
European Journal of Heart Failure
|
December 30, 2021
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)
Rudolf A de Boer, Stephane Heymans, Johannes Backs, et al.
Journal of the American College of Cardiology
|
October 28, 2017
Phenotype and Clinical Outcomes of Titin Cardiomyopathy
Upasana Tayal, Simon Newsome, Rachel Buchan, et al.
Circulation
|
August 30, 2021
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
Yasmine Aguib, Mona Allouba, Roddy Walsh, et al.
Page
of 9