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Matthew Mort

Showing results (71-80 of 88) with videos related to

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Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Nature Communications|October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority scoreRobert Chen, Áine Duffy, Ben O Petrazzini, et al.
Genome Biology|November 30, 2019
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variantsHai Lin, Katherine A Hargreaves, Rudong Li, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, et al.
Human Mutation|January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutionsMatthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
Nature Genetics|January 3, 2024
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indicationsÁine Duffy, Ben Omega Petrazzini, David Stein, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 10, 2017
Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and <i>MUTYH</i>-associated PolyposisLaura E Thomas, Joanna J Hurley, Elena Meuser, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Nature Communications|October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority scoreRobert Chen, Áine Duffy, Ben O Petrazzini, et al.
Genome Biology|November 30, 2019
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variantsHai Lin, Katherine A Hargreaves, Rudong Li, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, et al.
Human Mutation|January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutionsMatthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
Nature Genetics|January 3, 2024
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indicationsÁine Duffy, Ben Omega Petrazzini, David Stein, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 10, 2017
Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and <i>MUTYH</i>-associated PolyposisLaura E Thomas, Joanna J Hurley, Elena Meuser, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
Pageof 9