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Journal of Medical Genetics
|
October 19, 2013
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
Roddy Walsh, Nicholas S Peters, Stuart A Cook, et al.
Current Protocols in Human Genetics
|
October 7, 2015
Interpreting de novo Variation in Human Disease Using denovolyzeR
James S Ware, Kaitlin E Samocha, Jason Homsy, et al.
Human Mutation
|
May 15, 2012
Paralogous annotation of disease-causing variants in long QT syndrome genes
James S Ware, Roddy Walsh, Fiona Cunningham, et al.
European Heart Journal
|
June 21, 2021
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know
Upasana Tayal, James S Ware, Neal K Lakdawala, et al.
Genome Medicine
|
February 5, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
Dace Ruklisa, James S Ware, Roddy Walsh, et al.
Pharmacoeconomics
|
September 8, 2025
Highlights from the Manifesto on the Health Economics of Cardiovascular Disease Prevention
Zanfina Ademi, Sheridan E Rodda, Karl Vivoda, et al.
Open Heart
|
May 3, 2023
Identification of an increased lifetime risk of major adverse cardiovascular events in UK Biobank participants with scoliosis
Valentina Quintero Santofimio, Adam Clement, Declan P O'Regan, et al.
Annual Review of Genomics and Human Genetics
|
June 7, 2023
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
Julia Foreman, Daniel Perrett, Erica Mazaika, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reporting
Caroline F Wright, David R FitzPatrick, James S Ware, et al.
Wellcome Open Research
|
June 21, 2017
ClinVar data parsing
Xiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
Page
of 21
Search research articles
Search
Showing results (11-20 of 201) with videos related to
Sort By:
Page
of 21
Journal of Medical Genetics
|
October 19, 2013
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
Roddy Walsh, Nicholas S Peters, Stuart A Cook, et al.
Current Protocols in Human Genetics
|
October 7, 2015
Interpreting de novo Variation in Human Disease Using denovolyzeR
James S Ware, Kaitlin E Samocha, Jason Homsy, et al.
Human Mutation
|
May 15, 2012
Paralogous annotation of disease-causing variants in long QT syndrome genes
James S Ware, Roddy Walsh, Fiona Cunningham, et al.
European Heart Journal
|
June 21, 2021
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know
Upasana Tayal, James S Ware, Neal K Lakdawala, et al.
Genome Medicine
|
February 5, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
Dace Ruklisa, James S Ware, Roddy Walsh, et al.
Pharmacoeconomics
|
September 8, 2025
Highlights from the Manifesto on the Health Economics of Cardiovascular Disease Prevention
Zanfina Ademi, Sheridan E Rodda, Karl Vivoda, et al.
Open Heart
|
May 3, 2023
Identification of an increased lifetime risk of major adverse cardiovascular events in UK Biobank participants with scoliosis
Valentina Quintero Santofimio, Adam Clement, Declan P O'Regan, et al.
Annual Review of Genomics and Human Genetics
|
June 7, 2023
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
Julia Foreman, Daniel Perrett, Erica Mazaika, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reporting
Caroline F Wright, David R FitzPatrick, James S Ware, et al.
Wellcome Open Research
|
June 21, 2017
ClinVar data parsing
Xiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
Page
of 21