Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Vol. 32 Issue 1

January 2011

Volume 32, Issue 1

Pages v–v, 1–125, E1928–E1998

  1. In this issue

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Stepwise Functional Assessment of Unclassified DNA Variants (page v)

      Maurizio Genuardi

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21433

    2. You have full text access to this OnlineOpen article
      Evaluating Mutant mtDNA Tissue Distribution in Early Fetal Development (page v)

      Lynsey Cree

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21434

  2. Editorials

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. “Mutation in brief” online articles discontinued—introducing “brief reports” (page 1)

      Mark H. Paalman, Garry R. Cutting and Richard G.H. Cotton

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21425

  3. Research Articles

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection (pages 2–9)

      George P. Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Andrew Devereux, Alex E. Felice, Finlay Macrae, Makia J. Marafie, Michael B. Petersen, Ming Qi, Rajkumar S. Ramesar, Joel Zlotogora and Richard G.H. Cotton

      Article first published online: 9 DEC 2010 | DOI: 10.1002/humu.21397

  4. Mutation Updates

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2 (pages 10–18)

      Jochen Reiss and Rita Hahnewald

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21390

  5. Databases

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses (pages 19–24)

      Jingbo Wang, Mostafa Ronaghi, Samuel S. Chong and Caroline G.L. Lee

      Article first published online: 29 JUL 2010 | DOI: 10.1002/humu.21331

  6. Informatics

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups (pages 25–32)

      Anita Kloss-Brandstätter, Dominic Pacher, Sebastian Schönherr, Hansi Weissensteiner, Robert Binna, Günther Specht and Florian Kronenberg

      Article first published online: 16 NOV 2010 | DOI: 10.1002/humu.21382

  7. Research Articles

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders (pages 33–43)

      Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, Ion C. Cirstea, Christian Peter Kratz, Martin Zenker, Alfred Wittinghofer and Mohammad Reza Ahmadian

      Article first published online: 9 DEC 2010 | DOI: 10.1002/humu.21377

    2. MET mutations in cancers of unknown primary origin (CUPs) (pages 44–50)

      Giulia M. Stella, Silvia Benvenuti, Daniela Gramaglia, Aldo Scarpa, Anna Tomezzoli, Paola Cassoni, Rebecca Senetta, Tiziana Venesio, Ernesto Pozzi, Alberto Bardelli and Paolo M. Comoglio

      Article first published online: 9 NOV 2010 | DOI: 10.1002/humu.21374

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      Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 (pages 51–58)

      Karin Frank-Raue, Lisa A. Rybicki, Zoran Erlic, Heiko Schweizer, Aurelia Winter, Ioana Milos, Sergio P.A. Toledo, Rodrigo A. Toledo, Marcos R. Tavares, Maria Alevizaki, Caterina Mian, Heide Siggelkow, Michael Hüfner, Nelson Wohllk, Giuseppe Opocher, Šárka Dvořáková, Bela Bendlova, Małgorzata Czetwertynska, Elżbieta Skasko, Marta Barontini, Gabriela Sanso, Christian Vorländer, Ana Luiza Maia, Attila Patocs, Thera P. Links, Jan Willem de Groot, Michiel N. Kerstens, Gerlof D. Valk, Konstanze Miehle, Thomas J. Musholt, Josefina Biarnes, Svetozar Damjanovic, Mihaela Muresan, Christian Wüster, Martin Fassnacht, Mariola Peczkowska, Christine Fauth, Henriette Golcher, Martin A. Walter, Josef Pichl, Friedhelm Raue, Charis Eng and Hartmut P.H. Neumann, and for the International RET Exon 10 Consortium

      Article first published online: 16 NOV 2010 | DOI: 10.1002/humu.21385

    4. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder (pages 59–69)

      Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, Janet Koster, Ronald J.A. Wanders and Hans R. Waterham

      Article first published online: 9 DEC 2010 | DOI: 10.1002/humu.21388

    5. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases (pages 70–72)

      Céline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, Sourour Mansour, Philippe Guigue, Sahben Masmoudi, Elodie Bal, Nicolas Chassaing, Marie-Claire Vincent, Géraldine Viot, François Clauss, Marie-Cécile Manière, Steve Toupenay, Martine Le Merrer, Stanislas Lyonnet, Valérie Cormier-Daire, Jeanne Amiel, Laurence Faivre, Yves de Prost, Arnold Munnich, Jean-Paul Bonnefont, Christine Bodemer and Asma Smahi

      Article first published online: 9 DEC 2010 | DOI: 10.1002/humu.21384

    6. You have full text access to this OnlineOpen article
      Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH (pages 78–90)

      Carles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, Jaume Mercadé, Eva Pros, Llúcia Benito, Yolanda Benavente, Gabriel Capellà, Anna Ravella, Ignacio Blanco, Hildegard Kehrer-Sawatzki, Conxi Lázaro and Eduard Serra

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21387

    7. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome (pages 91–97)

      Tracy Busse, John M. Graham Jr., Gerald Feldman, Juan Perin, Anne Catherwood, Robert Knowlton, Eric F. Rappaport, Beverly Emanuel, Deborah A. Driscoll and Sulagna C. Saitta

      Article first published online: 9 DEC 2010 | DOI: 10.1002/humu.21395

    8. Statistical inference of allelic imbalance from transcriptome data (pages 98–106)

      Michael Nothnagel, Andreas Wolf, Alexander Herrmann, Karol Szafranski, Inga Vater, Mario Brosch, Klaus Huse, Reiner Siebert, Matthias Platzer, Jochen Hampe and Michael Krawczak

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21396

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      Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants (pages 107–115)

      Minttu Kansikas, Reetta Kariola and Minna Nyström

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21409

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      Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system (pages 116–125)

      Sophie Monnot, Nadine Gigarel, David C. Samuels, Philippe Burlet, Laetitia Hesters, Nelly Frydman, René Frydman, Violaine Kerbrat, Benoit Funalot, Jelena Martinovic, Alexandra Benachi, Josué Feingold, Arnold Munnich, Jean-Paul Bonnefont and Julie Steffann

      Article first published online: 22 DEC 2010 | DOI: 10.1002/humu.21417

  8. Mutations in Brief

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Evaluation of germline BMP4 mutation as a cause of colorectal cancer (pages E1928–E1938)

      Steven J. Lubbe, Alan M. Pittman, Cornelis Matijssen, Philip Twiss, Bianca Olver, Amy Lloyd, Mobshra Qureshi, Nathan Brown, Emma Nye, Gordon Stamp, Julian Blagg and Richard S. Houlston

      Article first published online: 14 OCT 2010 | DOI: 10.1002/humu.21376

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      A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family (pages E1939–E1947)

      Binbin Wang, Changhong Yu, Yi-Bo Xi, Hong-Chen Cai, Jing Wang, Sirui Zhou, Shiyi Zhou, Yi Wu, Yong-Bin Yan, Xu Ma and Lixin Xie

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21386

  9. Databases in Brief

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations (pages E1948–E1958)

      Sofia Pinto, Kristian Vlahoviček and Emanuele Buratti

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21393

  10. Mutations in Brief

    1. Top of page
    2. In this issue
    3. Editorials
    4. Research Articles
    5. Mutation Updates
    6. Databases
    7. Informatics
    8. Research Articles
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females (pages E1959–E1975)

      Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou and Eric LeGuern

      Article first published online: 4 NOV 2010 | DOI: 10.1002/humu.21373

    2. You have full text access to this OnlineOpen article
      Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B (pages E1976–E1984)

      Gladys Ho, Atsushi Yonezawa, Satohiro Masuda, Ken-ichi Inui, Keow G. Sim, Kevin Carpenter, Rikke K.J. Olsen, John J. Mitchell, William J. Rhead, Gregory Peters and John Christodoulou

      Article first published online: 18 NOV 2010 | DOI: 10.1002/humu.21399

    3. You have full text access to this OnlineOpen article
      Legius syndrome in fourteen families (pages E1985–E1998)

      Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans MW Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert, Takuma Ishizaki, Tomoaki Mori, Kathelijn Keymolen, Jenneke Van den Ende, Elisabeth Mangold, Sirkku Peltonen, Glen Brice, Julia Rankin, Karin Y Van Spaendonck-Zwarts, Akihiko Yoshimura and Eric Legius

      Article first published online: 18 NOV 2010 | DOI: 10.1002/humu.21404

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