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Matthew Mort

Showing results (51-60 of 88) with videos related to

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Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Scientific Reports|April 20, 2017
Exome Analysis of Rare and Common Variants within the NOD Signaling PathwayGaia Andreoletti, Valentina Shakhnovich, Kathy Christenson, 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.
Proteins|October 5, 2017
Biological and functional relevance of CASP predictionsTianyun Liu, Shirbi Ish-Shalom, Wen Torng, et al.
Bioinformatics (Oxford, England)|September 9, 2017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variantsKymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Nature Communications|September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidenceÁine Duffy, Robert Chen, David Stein, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 9

Showing results (51-60 of 88) with videos related to

Sort By:
Pageof 9
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Scientific Reports|April 20, 2017
Exome Analysis of Rare and Common Variants within the NOD Signaling PathwayGaia Andreoletti, Valentina Shakhnovich, Kathy Christenson, 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.
Proteins|October 5, 2017
Biological and functional relevance of CASP predictionsTianyun Liu, Shirbi Ish-Shalom, Wen Torng, et al.
Bioinformatics (Oxford, England)|September 9, 2017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variantsKymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Nature Communications|September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidenceÁine Duffy, Robert Chen, David Stein, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 9