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Medrxiv : the Preprint Server for Health Sciences
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April 17, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Journal of the American College of Cardiology
|
September 10, 2021
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy
Antonio de Marvao, Kathryn A McGurk, Sean L Zheng, et al.
Genome Medicine
|
October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Journal of the American College of Cardiology
|
June 2, 2022
Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data
Upasana Tayal, Job A J Verdonschot, Mark R Hazebroek, et al.
Circulation
|
December 5, 2024
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy
Joshua K Meisner, Aaron Renberg, Eric D Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 13, 2020
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, et al.
Circulation
|
March 17, 2025
Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy
Joshua K Meisner, Aaron Renberg, Eric D Smith, et al.
The New England Journal of Medicine
|
January 7, 2016
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
James S Ware, Jian Li, Erica Mazaika, et al.
Circulation
|
April 17, 2026
The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis
Robert Przybylski, Gabrielle Norrish, Brian Claggett, et al.
Nature Medicine
|
January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
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of 73
Search research articles
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Showing results (671-680 of 721) with videos related to
Sort By:
Page
of 73
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Journal of the American College of Cardiology
|
September 10, 2021
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy
Antonio de Marvao, Kathryn A McGurk, Sean L Zheng, et al.
Genome Medicine
|
October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Journal of the American College of Cardiology
|
June 2, 2022
Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data
Upasana Tayal, Job A J Verdonschot, Mark R Hazebroek, et al.
Circulation
|
December 5, 2024
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy
Joshua K Meisner, Aaron Renberg, Eric D Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 13, 2020
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, et al.
Circulation
|
March 17, 2025
Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy
Joshua K Meisner, Aaron Renberg, Eric D Smith, et al.
The New England Journal of Medicine
|
January 7, 2016
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
James S Ware, Jian Li, Erica Mazaika, et al.
Circulation
|
April 17, 2026
The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis
Robert Przybylski, Gabrielle Norrish, Brian Claggett, et al.
Nature Medicine
|
January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humans
Nicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Page
of 73