Human Mutation

Cover image for Vol. 33 Issue 11

November 2012

Volume 33, Issue 11

Pages v–v, 1501–1615, E2375–E2381

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. You have free access to this content
  2. Commentary

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. You have free access to this content
  3. Special Articles

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. You have free access to this content
      Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain (pages 1503–1512)

      George P. Patrinos, David N. Cooper, Erik van Mulligen, Vassiliki Gkantouna, Giannis Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos and Barend Mons

      Version of Record online: 23 JUL 2012 | DOI: 10.1002/humu.22144

    2. You have free access to this content
      Human variome project country nodes: Documenting genetic information within a country (pages 1513–1519)

      George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin Carpenter, Garry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G. H. Cotton, David Rimoin and (International Confederation of Countries Advisory Council)

      Version of Record online: 18 JUL 2012 | DOI: 10.1002/humu.22147

  4. Reviews

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms (pages 1520–1525)

      Philippe M. Campeau, James T. Lu, Brian C. Dawson, Ivo F. A. C. Fokkema, Stephen P. Robertson, Richard A. Gibbs and Brendan H. Lee

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/humu.22141

    2. A guide for functional analysis of BRCA1 variants of uncertain significance (pages 1526–1537)

      Gaël A. Millot, Marcelo A. Carvalho, Sandrine M. Caputo, Maaike P.G. Vreeswijk, Melissa A. Brown, Michelle Webb, Etienne Rouleau, Susan L. Neuhausen, Thomas v. O. Hansen, Alvaro Galli, Rita D. Brandão, Marinus J. Blok, Aneliya Velkova, Fergus J. Couch, Alvaro N.A. Monteiro and on behalf of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) Consortium Functional Assay Working Group

      Version of Record online: 16 JUL 2012 | DOI: 10.1002/humu.22150

  5. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. Review and update of SPRED1 mutations causing legius syndrome (pages 1538–1546)

      Hilde Brems, Eric Pasmant, Rick Van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius and Ludwine Messiaen

      Version of Record online: 1 AUG 2012 | DOI: 10.1002/humu.22152

  6. Databases

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application (pages 1547–1556)

      Gergely Gyimesi, Dávid Borsodi, Hajnalka Sarankó, Hedvig Tordai, Balázs Sarkadi and Tamás Hegedűs

      Version of Record online: 11 JUL 2012 | DOI: 10.1002/humu.22138

  7. Research Articles

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes (pages 1557–1565)

      Ayman El-Seedy, Emmanuelle Girodon, Caroline Norez, Julie Pajaud, Marie-Claude Pasquet, Alix de Becdelièvre, Thierry Bienvenu, Marie des Georges, Faïza Cabet, Guy Lalau, Eric Bieth, Martine Blayau, Frédéric Becq, Alain Kitzis, Pascale Fanen and Véronique Ladeveze

      Version of Record online: 2 JUL 2012 | DOI: 10.1002/humu.22129

    2. Comprehensive functional assessment of MLH1 variants of unknown significance (pages 1576–1588)

      Ester Borràs, Marta Pineda, Angela Brieger, Inga Hinrichsen, Carolina Gómez, Matilde Navarro, Judit Balmaña, Teresa Ramón y Cajal, Asunción Torres, Joan Brunet, Ignacio Blanco, Guido Plotz, Conxi Lázaro and Gabriel Capellá

      Version of Record online: 12 JUL 2012 | DOI: 10.1002/humu.22142

      Corrected by:

      Erratum: Comprehensive Functional Assessment of MLH1 Variants of Unknown Significance

      Vol. 34, Issue 1, 274, Version of Record online: 27 NOV 2012

    3. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix (pages 1589–1598)

      Aileen M. Barnes, Wayne A. Cabral, MaryAnn Weis, Elena Makareeva, Edward L. Mertz, Sergey Leikin, David Eyre, Carlos Trujillo and Joan C. Marini

      Version of Record online: 16 JUL 2012 | DOI: 10.1002/humu.22139

    4. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder (pages 1599–1609)

      Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes, Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor-Felix Mautner, David N. Cooper, Ludwine Messiaen and Hildegard Kehrer-Sawatzki

      Version of Record online: 20 AUG 2012 | DOI: 10.1002/humu.22171

  8. Methods

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease (pages 1610–1615)

      Byung-Ok Choi, Soo Kyung Koo, Mi-Hyun Park, Hwanseok Rhee, Song-Ju Yang, Kyoung-Gyu Choi, Sung-Chul Jung, Han Su Kim, Young Se Hyun, Khriezhanuo Nakhro, Hye Jin Lee, Hae-Mi Woo and Ki Wha Chung

      Version of Record online: 5 JUL 2012 | DOI: 10.1002/humu.22143

  9. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Databases
    8. Research Articles
    9. Methods
    10. Databases in Brief
    1. You have free access to this content
      CNVD: Text mining-based copy number variation in disease database (pages E2375–E2381)

      Fujun Qiu, Yan Xu, Kening Li, Zihui Li, Yufeng Liu, Huizi DuanMu, Shanzhen Zhang, Zhenqi Li, Zhiqiang Chang, Yuanshuai Zhou, Rui Zhang, Shujuan Zhang, Chunquan Li, Yan Zhang, Minzhai Liu and Xia Li

      Version of Record online: 23 JUL 2012 | DOI: 10.1002/humu.22163

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