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Peter D Stenson

Showing results (31-40 of 77) with videos related to

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Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Anesthesiology|November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutationsStephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|October 4, 2012
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov modelsHashem A Shihab, Julian Gough, David N Cooper, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
American Journal of Human Genetics|March 25, 2026
Genome-wide detection of human 5' UTR variants that impact protein translationMatthieu Chaldebas, Khoren Ponsin, Jonathan Bohlen, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Pageof 8

Showing results (31-40 of 77) with videos related to

Sort By:
Pageof 8
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Nature Genetics|November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivityKarthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Anesthesiology|November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutationsStephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|October 4, 2012
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov modelsHashem A Shihab, Julian Gough, David N Cooper, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
American Journal of Human Genetics|March 25, 2026
Genome-wide detection of human 5' UTR variants that impact protein translationMatthieu Chaldebas, Khoren Ponsin, Jonathan Bohlen, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Pageof 8