Human Mutation

Cover image for Vol. 33 Issue 5

Special Issue: Deep Phenotyping for Precision Medicine

May 2012

Volume 33, Issue 5

Pages 777–903

Issue edited by: Peter N. Robinson

  1. Overview

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
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  2. Special Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
      Knowledge engineering for health: A new discipline required to bridge the “ICT gap” between research and healthcare (pages 797–802)

      Tim Beck, Sirisha Gollapudi, Søren Brunak, Norbert Graf, Heinz U. Lemke, Debasis Dash, Iain Buchan, Carlos Díaz, Ferran Sanz and Anthony J. Brookes

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22066

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      Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users (pages 803–808)

      Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero and Segolene Ayme

      Article first published online: 6 APR 2012 | DOI: 10.1002/humu.22078

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      Back to the future: From genome to metabolome (pages 809–812)

      Joseph V. Thakuria, Alexander W. Zaranek, George M. Church and Gerard T. Berry

      Article first published online: 13 APR 2012 | DOI: 10.1002/humu.22073

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  3. Reviews

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
    2. You have free access to this content
      Mouse genetic and phenotypic resources for human genetics (pages 826–836)

      Paul N. Schofield, Robert Hoehndorf and Georgios V. Gkoutos

      Article first published online: 13 APR 2012 | DOI: 10.1002/humu.22077

  4. Informatics

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
    2. You have free access to this content
      Using PhenX measures to identify opportunities for cross-study analysis (pages 849–857)

      Huaqin Pan, Kimberly A. Tryka, Daniel J. Vreeman, Wayne Huggins, Michael J. Phillips, Jayashri P. Mehta, Jacqueline H. Phillips, Clement J. McDonald, Heather A. Junkins, Erin M. Ramos and Carol M. Hamilton

      Article first published online: 3 APR 2012 | DOI: 10.1002/humu.22074

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      MouseFinder: Candidate disease genes from mouse phenotype data (pages 858–866)

      Chao-Kung Chen, Christopher J. Mungall, Georgios V. Gkoutos, Sandra C. Doelken, Sebastian Köhler, Barbara J. Ruef, Cynthia Smith, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis, Paul N. Schofield and Damian Smedley

      Article first published online: 16 MAR 2012 | DOI: 10.1002/humu.22051

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      Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information (pages 867–873)

      Tomasz Adamusiak, Helen Parkinson, Juha Muilu, Erik Roos, Kasper Joeri van der Velde, Gudmundur A. Thorisson, Myles Byrne, Chao Pang, Sirisha Gollapudi, Vincent Ferretti, Hans Hillege, Anthony J. Brookes and Morris A. Swertz

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22070

  5. Research Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
  6. Special Articles

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
      Next-generation sequencing demands next-generation phenotyping (pages 884–886)

      Raoul C.M. Hennekam and Leslie G. Biesecker

      Article first published online: 27 MAR 2012 | DOI: 10.1002/humu.22048

  7. Databases

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
      The androgen receptor gene mutations database: 2012 update (pages 887–894)

      Bruce Gottlieb, Lenore K. Beitel, Abbesha Nadarajah, Miltiadis Paliouras and Mark Trifiro

      Article first published online: 13 MAR 2012 | DOI: 10.1002/humu.22046

  8. Brief Reports

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
      An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening (pages 895–898)

      Raffaele Palmirotta, Maria Laura De Marchis, Giorgia Ludovici, Barbara Leone, Maria Giovanna Valente, Jhessica Alessandroni, Antonella Spila, David Della-Morte and Fiorella Guadagni

      Article first published online: 22 MAR 2012 | DOI: 10.1002/humu.22043

  9. Errata

    1. Top of page
    2. Overview
    3. Special Articles
    4. Reviews
    5. Informatics
    6. Research Articles
    7. Special Articles
    8. Databases
    9. Brief Reports
    10. Errata
    1. You have free access to this content
      Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer (page 899)

      Ziad Kanaan, Shesh N. Rai, M. Robert Eichenberger, Christopher Barnes, Amy M. Dworkin, Clayton Weller, Eric Cohen, Henry Roberts, Bobby Keskey, Robert E. Petras, Nigel P.S. Crawford and Susan Galandiuk

      Article first published online: 13 APR 2012 | DOI: 10.1002/humu.22063

      This article corrects:
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      A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) (pages 900–903)

      Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

      Article first published online: 13 APR 2012 | DOI: 10.1002/humu.22064

      This article corrects:

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