Human Mutation

Cover image for Human Mutation

January 2012

Volume 33, Issue 1

Pages vii–vii, 1–289

  1. In This Issue

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

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. You have free access to this content
      Mandatory variant submission—Our experiences (page 1)

      Johan den Dunnen, Garry R. Cutting and Mark H. Paalman

      Version of Record online: 14 DEC 2011 | DOI: 10.1002/humu.21657

  3. Special Articles

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. You have free access to this content
      ENIGMA—Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes (pages 2–7)

      Amanda B. Spurdle, Sue Healey, Andrew Devereau, Frans B. L. Hogervorst, Alvaro N. A. Monteiro, Katherine L. Nathanson, Paolo Radice, Dominique Stoppa-Lyonnet, Sean Tavtigian, Barbara Wappenschmidt, Fergus J. Couch, David E. Goldgar and on behalf of ENIGMA

      Version of Record online: 3 NOV 2011 | DOI: 10.1002/humu.21628

  4. Review Articles

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) (pages 8–21)

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

      Version of Record online: 3 NOV 2011 | DOI: 10.1002/humu.21627

  5. Databases

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. You have free access to this content
      Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs (pages 22–28)

      Maxime P. Vallée, Tiana C. Francy, Megan K. Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E. Goldgar, Fergus J. Couch and Sean V. Tavtigian

      Version of Record online: 3 NOV 2011 | DOI: 10.1002/humu.21629

  6. Review

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
  7. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. You have free access to this content
    2. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum (pages 64–72)

      Sandra Whalen, Delphine Héron, Thierry Gaillon, Oana Moldovan, Massimiliano Rossi, Françoise Devillard, Fabienne Giuliano, Gabriela Soares, Michelle Mathieu-Dramard, Alexandra Afenjar, Perrine Charles, Cyril Mignot, Lydie Burglen, Lionel Van Maldergem, Juliette Piard, Salim Aftimos, Grazia Mancini, Patricia Dias, Nicole Philip, Alice Goldenberg, Martine Le Merrer, Marlène Rio, Dragana Josifova, Johanna Maria Van Hagen, Didier Lacombe, Patrick Edery, Sophie Dupuis-Girod, Audrey Putoux, Damien Sanlaville, Richard Fischer, Loïc Drévillon, Audrey Briand-Suleau, Corinne Metay, Michel Goossens, Jeanne Amiel, Aurelia Jacquette and Irina Giurgea

      Version of Record online: 23 NOV 2011 | DOI: 10.1002/humu.21639

    3. RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation (pages 73–80)

      Isabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Aurore Germain, Elise Orhan, Aline Antonio, Christian Hamel, José-Alain Sahel, Shomi S. Bhattacharya and Christina Zeitz

      Version of Record online: 1 DEC 2011 | DOI: 10.1002/humu.21640

  8. Databases

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. SpliceAid 2: A database of human splicing factors expression data and RNA target motifs (pages 81–85)

      Francesco Piva, Matteo Giulietti, Alessandra Ballone Burini and Giovanni Principato

      Version of Record online: 17 OCT 2011 | DOI: 10.1002/humu.21609

  9. Brief Reports

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia (pages 86–90)

      Marine R.-C. Kraus, Séverine Clauin, Yvan Pfister, Massimo Di Maïo, Tim Ulinski, Daniel Constam, Christine Bellanné-Chantelot and Anne Grapin-Botton

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21610

    2. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta (pages 91–94)

      Sang Hyun Cho, Figen Seymen, Kyung-Eun Lee, Sook-Kyung Lee, Young-Sun Kweon, Kyung Jin Kim, Seung-Eun Jung, Su Jeong Song, Mine Yildirim, Merve Bayram, Elif Bahar Tuna, Koray Gencay and Jung-Wook Kim

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21621

    3. Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients (pages 95–99)

      Ella R. Thompson, Samantha E. Boyle, Julie Johnson, Georgina L. Ryland, Sarah Sawyer, David Y.H. Choong, kConFab, Georgia Chenevix-Trench, Alison H. Trainer, Geoffrey J. Lindeman, Gillian Mitchell, Paul A. James and Ian G. Campbell

      Version of Record online: 4 NOV 2011 | DOI: 10.1002/humu.21625

    4. You have full text access to this OnlineOpen article
      Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types (pages 100–103)

      Siân Jones, Meng Li, D. Williams Parsons, Xiaosong Zhang, Jelle Wesseling, Petra Kristel, Marjanka K. Schmidt, Sanford Markowitz, Hai Yan, Darell Bigner, Ralph H. Hruban, James R. Eshleman, Christine A. Iacobuzio-Donahue, Michael Goggins, Anirban Maitra, Sami N. Malek, Steve Powell, Bert Vogelstein, Kenneth W. Kinzler, Victor E. Velculescu and Nickolas Papadopoulos

      Version of Record online: 23 NOV 2011 | DOI: 10.1002/humu.21633

    5. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy (pages 104–108)

      Christel Vaché, Thomas Besnard, Pauline le Berre, Gema García-García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Hanno Jörn Bolz, Jose Millan, Christian Hamel, Sue Malcolm, Mireille Claustres and Anne-Françoise Roux

      Version of Record online: 16 NOV 2011 | DOI: 10.1002/humu.21634

  10. Research Articles

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances (pages 109–117)

      Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, Guillaume Duthoit, Jean-Louis Hébert, Xavier Ferrer, Svetlana Maugenre, Wilhelm Schmitz, Uwe Kirchhefer, Ellen Schulze-Bahr, Pascale Guicheney and Eric Schulze-Bahr

      Version of Record online: 20 OCT 2011 | DOI: 10.1002/humu.21599

    2. Genotype–phenotype correlation in primary carnitine deficiency (pages 118–123)

      Emily C. Rose, Cristina Amat di San Filippo, Uzochi C. Ndukwe Erlingsson, Orly Ardon, Marzia Pasquali and Nicola Longo

      Version of Record online: 11 OCT 2011 | DOI: 10.1002/humu.21607

    3. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy (pages 124–135)

      Annick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew Sapio, Carmen Lambercy, Catherine Buresi, Bouchra Ouled Amar Bencheikh, Fatiha Lahjouji, Reda Ouazzani, Arielle Crespel, Denys Chaigne and Alain Malafosse

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21613

    4. The large-scale distribution of somatic mutations in cancer genomes (pages 136–143)

      Alan Hodgkinson, Ying Chen and Adam Eyre-Walker

      Version of Record online: 20 OCT 2011 | DOI: 10.1002/humu.21616

    5. You have full text access to this OnlineOpen article
      Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution (pages 144–157)

      Gail C. Jackson, Laureane Mittaz-Crettol, Jacqueline A. Taylor, Geert R. Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M. Hall, Amaka Offiah, Michael J. Wright, Ravi Savarirayan, Gen Nishimura, Simon C. Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl and Michael D. Briggs

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21611

    6. Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study (pages 158–164)

      Jennifer D. Brooks, Sharon N. Teraoka, Anne S. Reiner, Jaya M. Satagopan, Leslie Bernstein, Duncan C. Thomas, Marinela Capanu, Marilyn Stovall, Susan A. Smith, Shan Wei, Roy E. Shore, John D. Boice Jr., Charles F. Lynch, Lene Mellemkjær, Kathleen E. Malone, Xiaolin Liang, the WECARE Study Collaborative Group, Robert W. Haile, Patrick Concannon and Jonine L. Bernstein

      Version of Record online: 29 SEP 2011 | DOI: 10.1002/humu.21604

    7. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats (pages 165–179)

      Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

      Version of Record online: 2 NOV 2011 | DOI: 10.1002/humu.21614

    8. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility (pages 180–188)

      Michel Crépin, Marie-Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier, Michèle Mathieu and Marie-Pierre Buisine

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21617

    9. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 (pages 189–197)

      Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, Melissa Loscalzo, Dafne D. G. Horovitz, Ann Snowden, Ann Moser, Steve Steinberg and Nancy Braverman

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21623

    10. You have free access to this content
      Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia (pages 198–208)

      Kotoka Nakamura, Liutao Du, Rashmi Tunuguntla, Francesca Fike, Simona Cavalieri, Tomohiro Morio, Shuki Mizutani, Alfredo Brusco and Richard A. Gatti

      Version of Record online: 9 NOV 2011 | DOI: 10.1002/humu.21632

    11. You have full text access to this OnlineOpen article
      A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia (pages 218–231)

      Farhana Suleman, Benedetta Gualeni, Hannah J. Gregson, Matthew P. Leighton, Katarzyna A. Piróg, Sarah Edwards, Paul Holden, Raymond P. Boot-Handford and Michael D. Briggs

      Version of Record online: 17 NOV 2011 | DOI: 10.1002/humu.21631

    12. Functional characterization of splicing and ligand-binding domain variants in the LDL receptor (pages 232–243)

      Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Diego Tejedor, Kepa B. Uribe, Amalia Oleaga, Luis Irigoyen, Beatriz Torres, Helena Ostolaza and Cesar Martin

      Version of Record online: 3 NOV 2011 | DOI: 10.1002/humu.21630

    13. A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N) (pages 244–253)

      Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung Lee, Marina Kennerson, Ya-Ming Hou, Garth Nicholson and Anthony Antonellis

      Version of Record online: 9 NOV 2011 | DOI: 10.1002/humu.21635

    14. You have free access to this content
      Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis (pages 254–263)

      Jing Gong, Yin Tong, Hong-Mei Zhang, Kai Wang, Tao Hu, Ge Shan, Jun Sun and An-Yuan Guo

      Version of Record online: 23 NOV 2011 | DOI: 10.1002/humu.21641

  11. Methods

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Review Articles
    6. Databases
    7. Review
    8. Mutation Updates
    9. Databases
    10. Brief Reports
    11. Research Articles
    12. Methods
    1. Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements (pages 272–280)

      Marion Phylipsen, Attawut Chaibunruang, Ingrid P. Vogelaar, Jeetindra R. A. Balak, Rianne A. C. Schaap, Yavuz Ariyurek, Supan Fucharoen, Johan T. den Dunnen, Piero C. Giordano, Egbert Bakker and Cornelis L. Harteveld

      Version of Record online: 31 OCT 2011 | DOI: 10.1002/humu.21612

    2. Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer (pages 281–289)

      Qian Jiang, Tychele Turner, Maria X. Sosa, Ankit Rakha, Stacey Arnold and Aravinda Chakravarti

      Version of Record online: 17 OCT 2011 | DOI: 10.1002/humu.21602

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