Searching journal content for Matthew E. Hurles in author.

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  1. Research: Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
    • Joanna Kaplanis,
    • Nadia Akawi,
    • Giuseppe Gallone,
    • Jeremy F. McRae,
    • Elena Prigmore,
    • Caroline F. Wright,
    • David R. Fitzpatrick,
    • Helen V. Firth,
    • Jeffrey C. Barrett,
    • Matthew E. Hurles,
    • and on behalf of the Deciphering Developmental Disorders study
    Genome Res. July 2019 29: 1047-1056; Published in Advance June 21, 2019, doi:10.1101/gr.239756.118
    OPEN ACCESS ARTICLE
  2. Research: Pathogenicity and selective constraint on variation near splice sites
    • Jenny Lord,
    • Giuseppe Gallone,
    • Patrick J. Short,
    • Jeremy F. McRae,
    • Holly Ironfield,
    • Elizabeth H. Wynn,
    • Sebastian S. Gerety,
    • Liu He,
    • Bronwyn Kerr,
    • Diana S. Johnson,
    • Emma McCann,
    • Esther Kinning,
    • Frances Flinter,
    • I. Karen Temple,
    • Jill Clayton-Smith,
    • Meriel McEntagart,
    • Sally Ann Lynch,
    • Shelagh Joss,
    • Sofia Douzgou,
    • Tabib Dabir,
    • Virginia Clowes,
    • Vivienne P.M. McConnell,
    • Wayne Lam,
    • Caroline F. Wright,
    • David R. FitzPatrick,
    • Helen V. Firth,
    • Jeffrey C. Barrett,
    • Matthew E. Hurles,
    • and on behalf of the Deciphering Developmental Disorders study
    Genome Res. February 2019 29: 159-170; Published in Advance December 26, 2018, doi:10.1101/gr.238444.118
    OPEN ACCESS ARTICLE
  3. Method: Detection of structural mosaicism from targeted and whole-genome sequencing data
    • Daniel A. King,
    • Alejandro Sifrim,
    • Tomas W. Fitzgerald,
    • Raheleh Rahbari,
    • Emma Hobson,
    • Tessa Homfray,
    • Sahar Mansour,
    • Sarju G. Mehta,
    • Mohammed Shehla,
    • Susan E. Tomkins,
    • Pradeep C. Vasudevan,
    • Matthew E. Hurles,
    • and The Deciphering Developmental Disorders Study
    Genome Res. October 2017 27: 1704-1714; Published in Advance August 30, 2017, doi:10.1101/gr.212373.116
    OPEN ACCESS ARTICLE
  4. Method: A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
    • Daniel A. King,
    • Tomas W. Fitzgerald,
    • Ray Miller,
    • Natalie Canham,
    • Jill Clayton-Smith,
    • Diana Johnson,
    • Sahar Mansour,
    • Fiona Stewart,
    • Pradeep Vasudevan,
    • Matthew E. Hurles,
    • and the DDD Study
    Genome Res. April 2014 24: 673-687; Published in Advance December 19, 2013, doi:10.1101/gr.160465.113
  5. Research: Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
    • Aaron R. Quinlan,
    • Royden A. Clark,
    • Svetlana Sokolova,
    • Mitchell L. Leibowitz,
    • Yujun Zhang,
    • Matthew E. Hurles,
    • Joshua C. Mell,
    • and Ira M. Hall
    Genome Res. May 2010 20: 623-635; Published in Advance March 22, 2010, doi:10.1101/gr.102970.109
  6. ARTICLE: Copy number variation and evolution in humans and chimpanzees
    • George H. Perry,
    • Fengtang Yang,
    • Tomas Marques-Bonet,
    • Carly Murphy,
    • Tomas Fitzgerald,
    • Arthur S. Lee,
    • Courtney Hyland,
    • Anne C. Stone,
    • Matthew E. Hurles,
    • Chris Tyler-Smith,
    • Evan E. Eichler,
    • Nigel P. Carter,
    • Charles Lee,
    • and Richard Redon
    Genome Res. November 2008 18: 1698-1710; Published in Advance September 4, 2008, doi:10.1101/gr.082016.108
  7. Methods: Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
    • Daisuke Komura,
    • Fan Shen,
    • Shumpei Ishikawa,
    • Karen R. Fitch,
    • Wenwei Chen,
    • Jane Zhang,
    • Guoying Liu,
    • Sigeo Ihara,
    • Hiroshi Nakamura,
    • Matthew E. Hurles,
    • Charles Lee,
    • Stephen W. Scherer,
    • Keith W. Jones,
    • Michael H. Shapero,
    • Jing Huang,
    • and Hiroyuki Aburatani
    Genome Res. December 2006 16: 1575-1584; Published in Advance November 22, 2006, doi:10.1101/gr.5629106
  8. Methods: Accurate and reliable high-throughput detection of copy number variation in the human genome
    • Heike Fiegler,
    • Richard Redon,
    • Dan Andrews,
    • Carol Scott,
    • Robert Andrews,
    • Carol Carder,
    • Richard Clark,
    • Oliver Dovey,
    • Peter Ellis,
    • Lars Feuk,
    • Lisa French,
    • Paul Hunt,
    • Dimitrios Kalaitzopoulos,
    • James Larkin,
    • Lyndal Montgomery,
    • George H. Perry,
    • Bob W. Plumb,
    • Keith Porter,
    • Rachel E. Rigby,
    • Diane Rigler,
    • Armand Valsesia,
    • Cordelia Langford,
    • Sean J. Humphray,
    • Stephen W. Scherer,
    • Charles Lee,
    • Matthew E. Hurles,
    • and Nigel P. Carter
    Genome Res. December 2006 16: 1566-1574; Published in Advance November 22, 2006, doi:10.1101/gr.5630906
    OPEN ACCESS ARTICLE
  9. REVIEW: Copy number variation: New insights in genome diversity
    • Jennifer L. Freeman,
    • George H. Perry,
    • Lars Feuk,
    • Richard Redon,
    • Steven A. McCarroll,
    • David M. Altshuler,
    • Hiroyuki Aburatani,
    • Keith W. Jones,
    • Chris Tyler-Smith,
    • Matthew E. Hurles,
    • Nigel P. Carter,
    • Stephen W. Scherer,
    • and Charles Lee
    Genome Res. August 2006 16: 949-961; Published in Advance June 29, 2006, doi:10.1101/gr.3677206
  10. LETTER: Dynamics of a Human Interparalog Gene Conversion Hotspot
    • Elena Bosch,
    • Matthew E. Hurles,
    • Arcadi Navarro,
    • and Mark A. Jobling
    Genome Res. May 2004 14: 835-844; doi:10.1101/gr.2177404
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