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Peter D Stenson

Showing results (1-10 of 77) with videos related to

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Human Genomics|November 26, 2010
Prospects for the automated extraction of mutation data from the scientific literaturePeter D Stenson, David N Cooper
Current Protocols in Bioinformatics|April 23, 2008
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanismsDavid N Cooper, Peter D Stenson, Nadia A Chuzhanova
Genome Medicine|July 29, 2022
X-CAP improves pathogenicity prediction of stopgain variantsRuchir Rastogi, Peter D Stenson, David N Cooper, et al.
Human Mutation|February 20, 2004
Gross Rearrangement Breakpoint Database (GRaBD)Shaun S Abeysinghe, Peter D Stenson, Michael Krawczak, et al.
Human Genetics|June 29, 2005
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic diseaseJian-Min Chen, Peter D Stenson, David N Cooper, et al.
BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|August 20, 2005
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversionsJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|June 25, 2005
Complex gene rearrangements caused by serial replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.
Pageof 8

Showing results (1-10 of 77) with videos related to

Sort By:
Pageof 8
Human Genomics|November 26, 2010
Prospects for the automated extraction of mutation data from the scientific literaturePeter D Stenson, David N Cooper
Current Protocols in Bioinformatics|April 23, 2008
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanismsDavid N Cooper, Peter D Stenson, Nadia A Chuzhanova
Genome Medicine|July 29, 2022
X-CAP improves pathogenicity prediction of stopgain variantsRuchir Rastogi, Peter D Stenson, David N Cooper, et al.
Human Mutation|February 20, 2004
Gross Rearrangement Breakpoint Database (GRaBD)Shaun S Abeysinghe, Peter D Stenson, Michael Krawczak, et al.
Human Genetics|June 29, 2005
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic diseaseJian-Min Chen, Peter D Stenson, David N Cooper, et al.
BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|August 20, 2005
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversionsJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|June 25, 2005
Complex gene rearrangements caused by serial replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.
Pageof 8