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Genetics

D-Index
46
Citations
30511
World Ranking
4133
National Ranking
468

Overview

Matthew Mort is affiliated with Cardiff University in the United Kingdom. Their research focuses primarily on Biochemistry, Genetics, and Molecular Biology, with a particular emphasis on Genetics and Molecular Biology subfields. The scientist has contributed to areas including Cancer Research, Pathology and Forensic Medicine, and Surgery.

The main topics addressed in their work encompass:

  • Genomics and Rare Diseases
  • RNA and protein synthesis mechanisms
  • Genomic variations and chromosomal abnormalities
  • Genetic Associations and Epidemiology
  • Genomics and Phylogenetic Studies
  • Cancer Genomics and Diagnostics
  • RNA modifications and cancer

Among recent papers authored or co-authored by Matthew Mort are:

  • Inferring the molecular and phenotypic impact of amino acid variants with MutPred2, 2020, Nature Communications
  • The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting, 2020, Human Genetics
  • Developmental Gene Expression Differences between Humans and Mammalian Models, 2020, Cell Reports
  • Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study, 2020, Gastroenterology
  • Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin, 2020, Nucleic Acids Research

The venues where Matthew Mort frequently publishes include:

  • Nature Communications
  • Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Research Square (Research Square)
  • Cell Reports

Frequent co-authors with whom Matthew Mort collaborates are:

  • D.N. Cooper
  • Peter D. Stenson
  • David Stein
  • Avner Schlessinger
  • Yuval Itan

Best Publications

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Human Gene Mutation Database (HGMD): 2003 update.

    Peter Daniel Stenson;Edward Vincent Ball;Matthew Edwin Mort;Andrew David Phillips

  • The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Katy Evans

  • The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Katy Shaw

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • The Human Gene Mutation Database: 2008 update

    Peter Daniel Stenson;Matthew Mort;Edward Ball;Katy Howells

  • Automated inference of molecular mechanisms of disease from amino acid substitutions

    Biao Li;Vidhya G. Krishnan;Matthew E. Mort;Fuxiao Xin

  • Insights into hominid evolution from the gorilla genome sequence

    Aylwyn Scally;Julien Y. Dutheil;LaDeana W. Hillier;Gregory E. Jordan

  • Gene expression across mammalian organ development

    Margarida Cardoso-Moreira;Margarida Cardoso-Moreira;Jean Halbert;Delphine Valloton;Britta Velten

  • Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.

    Vikas Pejaver;Vikas Pejaver;Jorge Urresti;Jose Lugo-Martinez;Jose Lugo-Martinez;Kymberleigh A. Pagel;Kymberleigh A. Pagel

  • An integrative approach to predicting the functional effects of non-coding and coding sequence variation

    Hashem A. Shihab;Mark F. Rogers;Julian Gough;Matthew E. Mort

  • A map of human genome variation from population-scale sequencing

    Richard M. Durbin;David L. Altshuler;Gonçalo R. Abecasis;David R. Bentley

  • The Human Gene Mutation Database (HGMD ® ): optimizing its use in a clinical diagnostic or research setting

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Molly Chapman

  • Human Gene Mutation Database (HGMD

    Peter D. Stenson;Edward V. Ball;Matthew Mort;Andrew D. Phillips

  • A meta‐analysis of nonsense mutations causing human genetic disease

    Matthew Edwin Mort;Dobril Kirilov Ivanov;David Neil Cooper;Nadia Chuzhanova

  • Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

    Michael Krawczak;Nick S.T. Thomas;Bernd Hundrieser;Matthew Mort

  • FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

    Mark F. Rogers;Hashem A. Shihab;Matthew E. Mort;David N. Cooper

  • Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

    Jeremy R. Sanford;Xin Wang;Matthew Mort;Natalia VanDuyn

  • The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

    Peter Daniel Stenson;Edward Vincent Ball;Matthew Edwin Mort;Andrew David Phillips

  • Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

    Yali Xue;Yuan Chen;Qasim Ayub;Ni Huang

Frequent Co-Authors

David Neil Cooper
David Neil Cooper Cardiff University
Peter D. Stenson
Peter D. Stenson Cardiff University
Sean D. Mooney
Sean D. Mooney University of Washington
Predrag Radivojac
Predrag Radivojac Northeastern University
Yaoqi Zhou
Yaoqi Zhou Griffith University
Yunlong Liu
Yunlong Liu Indiana University
Yuedong Yang
Yuedong Yang Sun Yat-sen University
Michael Krawczak
Michael Krawczak Kiel University
Haiyuan Yu
Haiyuan Yu Cornell University
Jonathan Sebat
Jonathan Sebat University of California, San Diego

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