Human Mutation

Cover image for Vol. 33 Issue 4

Special Issue: Focus on the NIH Undiagnosed Diseases Program

April 2012

Volume 33, Issue 4

Pages v–v, 591–776, E2332–E2340

Issue edited by: David S. Rosenblatt, Jacek Majewski

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      Actin out with filamin: Two sides of the story (page v)

      Jianjun Hu and Volney Sheen

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22572

    2. You have free access to this content
      KMD: A country-specific genetic variation resource for Korea (page v)

      Timothy David Smith,

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22573

  2. Commentary

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      Exome and whole-genome sequencing for gene discovery: The future is now! (pages 591–592)

      Jacek Majewski and David S. Rosenblatt

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22055

  3. Informatics

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance (pages 593–598)

      Murat Sincan, Dimitre R Simeonov, David Adams, Thomas C. Markello, Tyler M. Pierson, Camilo Toro, William A. Gahl and Cornelius F. Boerkoel

      Version of Record online: 24 FEB 2012 | DOI: 10.1002/humu.22034

  4. Methods

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      Analysis of DNA sequence variants detected by high-throughput sequencing (pages 599–608)

      David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl and Tom C. Markello

      Version of Record online: 28 FEB 2012 | DOI: 10.1002/humu.22035

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      Detecting false-positive signals in exome sequencing (pages 609–613)

      Karin V. Fuentes Fajardo, David Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia Tifft, Camilo Toro, Cornelius F Boerkoel, William Gahl and Thomas Markello

      Version of Record online: 5 MAR 2012 | DOI: 10.1002/humu.22033

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      An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia (pages 614–626)

      Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl and Cornelius F. Boerkoel

      Version of Record online: 28 FEB 2012 | DOI: 10.1002/humu.22032

  5. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
  6. Informatics

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. Assessing the Enrichment Performance in Targeted Resequencing Experiments (pages 635–641)

      Peter Frommolt, Ali T. Abdallah, Janine Altmüller, Susanne Motameny, Holger Thiele, Christian Becker, Kathryn Stemshorn, Matthias Fischer, Tobias Freilinger and Peter Nürnberg

      Version of Record online: 28 FEB 2012 | DOI: 10.1002/humu.22036

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      Classification of mismatch repair gene missense variants with PON-MMR (pages 642–650)

      Heidi Ali, Ayodeji Olatubosun and Mauno Vihinen

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22038

  7. Brief Reports

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse (pages 651–654)

      Sohei Kitazawa, Takeshi Kondo, Kiyoshi Mori, Naoki Yokoyama, Masafumi Matsuo and Riko Kitazawa

      Version of Record online: 14 FEB 2012 | DOI: 10.1002/humu.22027

    2. Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing (pages 660–664)

      Wenke Seifert, Jirko Kühnisch, Beyhan Tüysüz, Christof Specker, Ad Brouwers and Denise Horn

      Version of Record online: 24 FEB 2012 | DOI: 10.1002/humu.22042

  8. Research Articles

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity (pages 665–673)

      Philip B. Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Trevor Cole, Felicity Collins, Albert David, Koen Devriendt, Laurence Faivre, Shiro Ikegawa, Sebastien Jacquemont, Milos Jesic, Deborah Krakow, Daniela Liebrecht, Silvia Maitz, Sandrine Marlin, Gilles Morin, Toshiya Nishikubo, Gen Nishimura, Trine Prescott, Gioacchino Scarano, Yousef Shafeghati, Flemming Skovby, Seiji Tsutsumi, Margo Whiteford, Martin Zenker and Stephen P. Robertson

      Version of Record online: 23 JAN 2012 | DOI: 10.1002/humu.22012

    2. Rare germline mutations in PALB2 and breast cancer risk: A population-based study (pages 674–680)

      Marc Tischkowitz, Marinela Capanu, Nelly Sabbaghian, Lili Li, Xiaolin Liang, Maxime P. Vallée, Sean V. Tavtigian, Patrick Concannon, William D. Foulkes, Leslie Bernstein, The WECARE Study Collaborative Group, Jonine L. Bernstein and Colin B. Begg

      Version of Record online: 15 FEB 2012 | DOI: 10.1002/humu.22022

    3. Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss (pages 681–689)

      Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, Marine Börlin, Etienne Hebert-Chatelain, Denis Pierron, Delphine Feldmann, Laurence Jonard, Sandrine Marlin, Thierry Letellier and Christophe Rocher

      Version of Record online: 14 FEB 2012 | DOI: 10.1002/humu.22023

    4. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers (pages 690–702)

      Susan J. Ramus, Antonis C. Antoniou, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A. Caligo, Annelie Liljegren, Annika Lindblom, Håkan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, SWE-BRCA, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Ana Osorio, Javier Benitez, Mercedes Duran, Maria-Isabel Tejada, Ute Hamann, Matti Rookus, Flora E. van Leeuwen, Cora M. Aalfs, Hanne E.J. Meijers-Heijboer, Christi J. van Asperen, K.E.P. van Roozendaal, Nicoline Hoogerbrugge, J. Margriet Collée, Mieke Kriege, Rob B. van der Luijt, HEBON, EMBRACE, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Harsh Pathak, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Virginie Caux-Moncoutier, Antoine de Pauw, Marion Gauthier-Villars, Sylvie Mazoyer, Mélanie Léoné, Alain Calender, Christine Lasset, Valérie Bonadona, Agnès Hardouin, Pascaline Berthet, Yves-Jean Bignon, Nancy Uhrhammer, Laurence Faivre, Catherine Loustalot, GEMO, Saundra Buys, Mary Daly, Alex Miron, Mary Beth Terry, Wendy K. Chung, Esther M John, Melissa Southey, David Goldgar, Christian F. Singer, Muy-Kheng Tea, Georg Pfeiler, Anneliese Fink-Retter, Thomas v. O. Hansen, Bent Ejlertsen, Oskar Th. Johannsson, Kenneth Offit, Tomas Kirchhoff, Mia M. Gaudet, Joseph Vijai, Mark Robson, Marion Piedmonte, Kelly-Anne Phillips, Linda Van Le, James S Hoffman, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Evgeny Imyanitov, Claudine Isaacs, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Eva Tornero, Matilde Navarro, Kirsten B. Moysich, Beth Y. Karlan, Jenny Gross, Edith Olah, Tibor Vaszko, Soo-Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Cecelia M Dorfling, Elizabeth J. van Rensburg, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorotehea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Marie Plante, Amanda B. Spurdle, kConFab, Susan L. Neuhausen, Yuan Chun Ding, Xianshu Wang, Noralane Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H. Greene, Phuong L. Mai, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Paul D.P. Pharoah, Simon A. Gayther, Jacques Simard, Douglas F. Easton, Fergus J. Couch, Georgia Chenevix-Trench and on behalf of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

      Version of Record online: 14 FEB 2012 | DOI: 10.1002/humu.22025

    5. You have full text access to this OnlineOpen article
      Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair (pages 703–709)

      Giovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, Elisabetta Flex, Claudio Isella, Daniela Cantarella, Davide Corà, Nicoletta Chiesa, Nicoletta Crescenzio, Fabio Timeus, Giuseppe Merla, Laura Mazzanti, Giuseppe Zampino, Cesare Rossi, Margherita Silengo, Marco Tartaglia and Enzo Medico

      Version of Record online: 14 FEB 2012 | DOI: 10.1002/humu.22026

    6. SEPT12 mutations cause male infertility with defective sperm annulus (pages 710–719)

      Yung-Che Kuo, Ying-Hung Lin, Hau-Inh Chen, Ya-Yun Wang, Yu-Wei Chiou, Hsi-Hui Lin, Hsien-An Pan, Ching-Ming Wu, Shih-Ming Su, Chao-Chin Hsu and Pao-Lin Kuo

      Version of Record online: 20 FEB 2012 | DOI: 10.1002/humu.22028

    7. You have full text access to this OnlineOpen article
      Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (pages 720–727)

      Huay L. Tan, Elise Glen, Ana Töpf, Darroch Hall, John J O'Sullivan, Linda Sneddon, Christopher Wren, Peter Avery, Richard J. Lewis, Peter ten Dijke, Helen M. Arthur, Judith A. Goodship and Bernard D. Keavney

      Version of Record online: 14 FEB 2012 | DOI: 10.1002/humu.22030

    8. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features (pages 728–740)

      Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger Ladda, Susan Sell, Judith Martin, Shawnia Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan-Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye, Bénédicte Heron-Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloes, Bertrand Isidor, Cedric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif and Lisa G. Shaffer

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22037

    9. Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis (pages 741–749)

      James I. Robinson, Ian M. Carr, Dawn L. Cooper, Lubna H. Rashid, Stephen G. Martin, Paul Emery, John D. Isaacs, Anne Barton, BRAGGSS, Anthony G. Wilson, Jennifer H Barrett and Ann W. Morgan

      Version of Record online: 28 FEB 2012 | DOI: 10.1002/humu.22031

    10. Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells (pages 750–762)

      Rudolf Arlanov, Andrew Porter, Dennis Strand, Rachel Brough, Darja Karpova, Reinhold Kerb, Leszek Wojnowski, Matthias Schwab and Thomas Lang

      Version of Record online: 28 FEB 2012 | DOI: 10.1002/humu.22041

    11. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis (pages 763–776)

      Meena Upadhyaya, Gill Spurlock, Laura Thomas, Nick S. T. Thomas, Mark Richards, Viktor-Felix Mautner, David N. Cooper, Abhijit Guha and Jim Yan

      Version of Record online: 5 MAR 2012 | DOI: 10.1002/humu.22044

  9. Databases In Brief

    1. Top of page
    2. In This Issue
    3. Commentary
    4. Informatics
    5. Methods
    6. Mutation Updates
    7. Informatics
    8. Brief Reports
    9. Research Articles
    10. Databases In Brief
    1. You have free access to this content
      KMD: Korean mutation database for genes related to diseases (pages E2332–E2340)

      Mi-Hyun Park, Soo Kyung Koo, Jin-Sung Lee, Han-Wook Yoo, Jong-Won Kim, Hae Il Cheong and Hyun-Young Park

      Version of Record online: 12 MAR 2012 | DOI: 10.1002/humu.22039

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