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Genetics
UK
2024
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Genetics and Molecular Biology
UK
2024

D-Index & Metrics

Genetics

D-Index
122
Citations
128650
World Ranking
336
National Ranking
61

Research.com Recognitions

  • 2024 - Research.com Genetics in United Kingdom Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United Kingdom Leader Award
  • 2023 - Research.com Genetics in United Kingdom Leader Award
  • 2019 - Fellow of the Royal Society, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Member of the European Molecular Biology Organization (EMBO)
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Member of the European Molecular Biology Organization (EMBO)

Overview

Matthew E. Hurles is affiliated with the Wellcome Sanger Institute in the United Kingdom. Their research primarily focuses on biochemistry, genetics, and molecular biology, with significant contributions to genetics and molecular biology subfields. Their work also extends into pediatrics, perinatology and child health, cognitive neuroscience, and cancer research.

The main research topics that Matthew E. Hurles has explored include genomics and rare diseases, genomic variations and chromosomal abnormalities, genetics and neurodevelopmental disorders, genetic associations and epidemiology, CRISPR and genetic engineering, autism spectrum disorder research, and cancer genomics and diagnostics.

Hurles has published extensively, with notable recent papers including:

  • A brief history of human disease genetics, 2020, Nature
  • A cross-disorder dosage sensitivity map of the human genome, 2022, Cell
  • Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, 2023, New England Journal of Medicine
  • The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources, 2022, Genetics in Medicine
  • Genetic correlates of phenotypic heterogeneity in autism, 2022, Nature Genetics

Frequent co-authors include:

  • Helen V. Firth
  • Caroline F. Wright
  • Hilary C. Martin
  • Ruth Y. Eberhardt
  • Petr Danecek

Hurles has contributed to publications in several venues, with the highest number of publications appearing in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature
  • Nature Genetics
  • Genetics in Medicine
  • Nature Communications

Among the recognitions received, Hurles is a Fellow of the Royal Society, United Kingdom since 2019 and a Fellow of The Academy of Medical Sciences, United Kingdom. They are also a member of the European Molecular Biology Organization (EMBO).

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

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

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • A Map of Human Genome Variation From Population-Scale Sequencing

    Gonçalo R Abecasis;David Altshuler;David Altshuler;Adam Auton

  • Global variation in copy number in the human genome

    Richard Redon;Shumpei Ishikawa;Karen R. Fitch;Lars Feuk

  • Accurate whole human genome sequencing using reversible terminator chemistry

    David R. Bentley;Shankar Balasubramanian;Harold P. Swerdlow;Harold P. Swerdlow;Geoffrey P. Smith

  • Cerebral organoids model human brain development and microcephaly

    Madeline A. Lancaster;Magdalena Renner;Carol Anne Martin;Daniel Wenzel

  • Integrating common and rare genetic variation in diverse human populations

    D M Altshuler;R A Gibbs;L Peltonen

  • Origins and functional impact of copy number variation in the human genome

    Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk

  • Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

    Barbara E. Stranger;Matthew S. Forrest;Mark Dunning;Catherine E. Ingle

  • The UK10K project identifies rare variants in health and disease

    K Walter;J L Min;J Huang

  • Paired-end mapping reveals extensive structural variation in the human genome.

    Jan O. Korbel;Alexander Eckehart Urban;Jason P. Affourtit;Brian Godwin

  • A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

    Daniel G. MacArthur;Daniel G. MacArthur;Suganthi Balasubramanian;Adam Frankish;Ni Huang

  • The DNA sequence of the human X chromosome

    Mark T Ross;Darren V Grafham;Alison J Coffey;Steven Scherer

  • Copy number variation in human health, disease, and evolution.

    Feng Zhang;Wenli Gu;Matthew E. Hurles;James R. Lupski

  • Mapping copy number variation by population-scale genome sequencing

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

  • Copy number variation: New insights in genome diversity

    Jennifer L. Freeman;George H. Perry;Lars Feuk;Richard Redon

  • Human evolutionary genetics : origins, peoples & disease

    Mark A. Jobling;Matthew Hurles;Chris Tyler-Smith

  • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

    Peter J Campbell;Philip J Stephens;Erin D Pleasance;Sarah O'Meara

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

Frequent Co-Authors

Chris Tyler-Smith
Chris Tyler-Smith Wellcome Sanger Institute
Caroline F. Wright
Caroline F. Wright Wellcome Sanger Institute
Mark A. Jobling
Mark A. Jobling University of Leicester
Michael Parker
Michael Parker University of Oxford
Nigel P. Carter
Nigel P. Carter Wellcome Sanger Institute
Charles Lee
Charles Lee The Jackson Laboratory
Francesco Muntoni
Francesco Muntoni University College London
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Daniel G. MacArthur
Daniel G. MacArthur Garvan Institute of Medical Research

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