Human Mutation

Cover image for Human Mutation

December 2012

Volume 33, Issue 12

Pages 1617–1718

  1. Reviews

    1. Top of page
    2. Reviews
    3. Brief Reports
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future (pages 1617–1625)

      Lene Juel Rasmussen, Christopher D. Heinen, Brigitte Royer-Pokora, Mark Drost, Sean Tavtigian, Robert M.W. Hofstra and Niels de Wind

      Article first published online: 13 AUG 2012 | DOI: 10.1002/humu.22168

  2. Brief Reports

    1. Top of page
    2. Reviews
    3. Brief Reports
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis (pages 1626–1629)

      Garima Yagnik, Apar Ghuman, Sundon Kim, Christina G. Stevens, Virginia Kimonis, Joan Stoler, Pedro A. Sanchez-Lara, Jonathan A. Bernstein, Cyril Naydenov, Hicham Drissi, Michael L. Cunningham, Jinoh Kim and Simeon A. Boyadjiev

      Article first published online: 13 AUG 2012 | DOI: 10.1002/humu.22166

    2. Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers (pages 1630–1634)

      Matthew A. Lalli, Gloria Garcia, Lucia Madrigal, Mauricio Arcos-Burgos, Mary Luz Arcila, Kenneth S. Kosik and Francisco Lopera

      Article first published online: 10 AUG 2012 | DOI: 10.1002/humu.22167

    3. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility (pages 1635–1638)

      Cheng Bi, Jinyu Wu, Tao Jiang, Qi Liu, Wanshi Cai, Ping Yu, Tao Cai, Mei Zhao, Yong-hui Jiang and Zhong Sheng Sun

      Article first published online: 24 AUG 2012 | DOI: 10.1002/humu.22174

  3. Rapid Communications

    1. Top of page
    2. Reviews
    3. Brief Reports
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder (pages 1639–1646)

      Erik G. Puffenberger, Robert N. Jinks, Heng Wang, Baozhong Xin, Christopher Fiorentini, Eric A. Sherman, Dominick Degrazio, Calvin Shaw, Carrie Sougnez, Kristian Cibulskis, Stacey Gabriel, Richard I. Kelley, D. Holmes Morton and Kevin A. Strauss

      Article first published online: 12 NOV 2012 | DOI: 10.1002/humu.22237

  4. Research Articles

    1. Top of page
    2. Reviews
    3. Brief Reports
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Functional characterization of MLH1 missense variants identified in lynch syndrome patients (pages 1647–1655)

      Sofie Dabros Andersen, Sascha Emilie Liberti, Anne Lützen, Mark Drost, Inge Bernstein, Mef Nilbert, Mev Dominguez, Minna Nyström, Thomas Van Overeem Hansen, Janus Wiese Christoffersen, Anne Charlotte Jäger, Niels de Wind, Finn Cilius Nielsen, Pernille M. Tørring and Lene Juel Rasmussen

      Article first published online: 23 JUL 2012 | DOI: 10.1002/humu.22153

    2. You have full text access to this OnlineOpen article
      Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome (pages 1656–1664)

      Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K. Bruce, Andrew R. Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A. S. Knisely, Steven P. Watson and Paul Gissen

      Article first published online: 6 AUG 2012 | DOI: 10.1002/humu.22155

    3. Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site (pages 1665–1675)

      Brooke L. Brewster, Francesca Rossiello, Juliet D. French, Stacey L. Edwards, Ming Wong, Ania Wronski, Phillip Whiley, Nic Waddell, Xiaowei Chen, Betsy Bove, kConFab, John L. Hopper, Esther M. John, Irene Andrulis, Mary Daly, Sara Volorio, Loris Bernard, Bernard Peissel, Siranoush Manoukian, Monica Barile, Sara Pizzamiglio, Paolo Verderio, Amanda B. Spurdle, Paolo Radice, Andrew K. Godwin, Melissa C Southey, Melissa A. Brown and Paolo Peterlongo

      Article first published online: 2 AUG 2012 | DOI: 10.1002/humu.22159

    4. Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome (pages 1676–1686)

      Marc Forrest, Ria M. Chapman, A. Michelle Doyle, Caroline L. Tinsley, Adrian Waite and Derek J. Blake

      Article first published online: 27 JUL 2012 | DOI: 10.1002/humu.22160

  5. Methods

    1. Top of page
    2. Reviews
    3. Brief Reports
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities (pages 1708–1718)

      Florian Mittag, Finja Büchel, Mohamad Saad, Andreas Jahn, Claudia Schulte, Zoltan Bochdanovits, Javier Simón-Sánchez, Mike A. Nalls, Margaux Keller, Dena G. Hernandez, J. Raphael Gibbs, Suzanne Lesage, Alexis Brice, Peter Heutink, Maria Martinez, Nicholas W Wood, John Hardy, Andrew B. Singleton, Andreas Zell, Thomas Gasser and Manu Sharma

      Article first published online: 3 AUG 2012 | DOI: 10.1002/humu.22161

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