Human Mutation

Cover image for Human Mutation

August 2012

Volume 33, Issue 8

Pages v–vi, 1149–1310

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. You have free access to this content
    2. You have free access to this content
  2. In Memoriam

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. You have free access to this content
      In memory of David L. Rimoin, MD, PhD (1936–2012) (page vi)

      Haig H. Kazazian

      Version of Record online: 13 JUL 2012 | DOI: 10.1002/humu.22151

  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. Mutation update on the CHD7 gene involved in CHARGE syndrome (pages 1149–1160)

      Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts and Lies H. Hoefsloot

      Version of Record online: 16 APR 2012 | DOI: 10.1002/humu.22086

  4. Databases

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants (pages 1161–1165)

      Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

      Version of Record online: 29 MAY 2012 | DOI: 10.1002/humu.22108

  5. Informatics

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. PON-P: Integrated predictor for pathogenicity of missense variants (pages 1166–1174)

      Ayodeji Olatubosun, Jouni Väliaho, Jani Härkönen, Janita Thusberg and Mauno Vihinen

      Version of Record online: 7 MAY 2012 | DOI: 10.1002/humu.22102

  6. Rapid Communications

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis (pages 1175–1181)

      Christine P. Diggle, David A. Parry, Clare V. Logan, Paul Laissue, Carolina Rivera, Carlos Martín Restrepo, Dora J. Fonseca, Joanne E. Morgan, Yannick Allanore, Michaela Fontenay, Julien Wipff, Mathilde Varret, Laure Gibault, Nadezhda Dalantaeva, Márta Korbonits, Bowen Zhou, Gang Yuan, Ghita Harifi, Kivanc Cefle, Sukru Palanduz, Hadim Akoglu, Petra J. Zwijnenburg, Klaske D. Lichtenbelt, Bérengère Aubry-Rozier, Andrea Superti-Furga, Bruno Dallapiccola, Maria Accadia, Francesco Brancati, Eamonn G. Sheridan, Graham R. Taylor, Ian M. Carr, Colin A. Johnson, Alexander F. Markham and David T. Bonthron

      Version of Record online: 29 MAY 2012 | DOI: 10.1002/humu.22111

  7. Brief Reports

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani-like syndrome and affect disruptions in the extracellular matrix (pages 1182–1187)

      Ramona Haji-Seyed-Javadi, Sahar Jelodari-Mamaghani, Seyed Hassan Paylakhi, Shahin Yazdani, Naveed Nilforushan, Jian-Bing Fan, Brandy Klotzle, Mohammad Jafar Mahmoudi, Mohammad Jafar Ebrahimian, Noori Chelich, Ehsan Taghiabadi, Kambiz Kamyab, Catherine Boileau, Coro Paisan-Ruiz, Mostafa Ronaghi and Elahe Elahi

      Version of Record online: 29 MAY 2012 | DOI: 10.1002/humu.22105

    2. You have free access to this content
      Paralogous annotation of disease-causing variants in long QT syndrome genes (pages 1188–1191)

      James S. Ware, Roddy Walsh, Fiona Cunningham, Ewan Birney and Stuart A. Cook

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/humu.22114

  8. Research Articles

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. SURF1-associated leigh syndrome: A case series and novel mutations (pages 1192–1200)

      Inn-Chi Lee, Ayman W. El-Hattab, Jing Wang, Fang-Yuan Li, Shao-Wen Weng, William J. Craigen and Lee-Jun C. Wong

      Version of Record online: 30 APR 2012 | DOI: 10.1002/humu.22095

    2. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia (pages 1201–1206)

      Florin Sasarman, Tamiko Nishimura, Isabelle Thiffault and Eric A. Shoubridge

      Version of Record online: 7 MAY 2012 | DOI: 10.1002/humu.22098

    3. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase (pages 1207–1215)

      Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodoulou, Stephen G. Kaler and Jutta Gärtner

      Version of Record online: 16 MAY 2012 | DOI: 10.1002/humu.22099

    4. Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells (pages 1216–1227)

      Bodour Salhia, Courtney Van Cott, Tony Tegeler, Ashoka Polpitiya, Rachelle A. DuQuette, Molly Gale, Galen Hostteter, Konstantinos Petritis and John Carpten

      Version of Record online: 11 MAY 2012 | DOI: 10.1002/humu.22100

    5. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants (pages 1228–1238)

      Claude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, Michel Barrois, Françoise Bonnet, Violaine Bourdon, Myriam Bronner, Monique Buisson, Florence Coulet, Pascaline Gaildrat, Cédrick Lefol, Mélanie Léone, Sylvie Mazoyer, Danielle Muller, Audrey Remenieras, Françoise Révillion, Etienne Rouleau, Joanna Sokolowska, Jean-Philippe Vert, Rosette Lidereau, Florent Soubrier, Hagay Sobol, Nicolas Sevenet, Brigitte Bressac-de Paillerets, Agnès Hardouin, Mario Tosi, Olga M. Sinilnikova and Dominique Stoppa-Lyonnet

      Version of Record online: 11 MAY 2012 | DOI: 10.1002/humu.22101

    6. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients (pages 1239–1250)

      Marie-Pierre Audrézet, Emilie Cornec-Le Gall, Jian-Min Chen, Sylvia Redon, Isabelle Quéré, Joelle Creff, Caroline Bénech, Sandrine Maestri, Yann Le Meur and Claude Férec

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/humu.22103

    7. You have free access to this content
      A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome (pages 1251–1260)

      Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts and Robert M.W. Hofstra

      Version of Record online: 11 MAY 2012 | DOI: 10.1002/humu.22106

    8. You have full text access to this OnlineOpen article
      Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis (pages 1261–1266)

      Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y. Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yilmaz Basaran, Jill Clayton-Smith, Julie Désir, Harinder Gill, Marie T. Greally, Erkan Koparir, Merel C van Maarle, Sara MacKay, Geert Mortier, Jenny Morton, David Sillence, Catheline Vilain, Ian Young, Klaus Zerres, Martine Le Merrer, Arnold Munnich, Carine Le Goff, Antonio Rossi and Valérie Cormier-Daire

      Version of Record online: 22 MAY 2012 | DOI: 10.1002/humu.22104

    9. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis (pages 1267–1274)

      David L. Masica, Patrick R. Sosnay, Garry R. Cutting and Rachel Karchin

      Version of Record online: 22 MAY 2012 | DOI: 10.1002/humu.22110

    10. Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9 (pages 1275–1284)

      An-Ping Chen, Min-Hwang Chang and Michael F. Romero

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/humu.22107

    11. Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees (pages 1285–1293)

      Qiaomeng Qiu, Ronghua Li, Pingping Jiang, Ling Xue, Yang Lu, Yaman Song, Jungang Han, Zhongqiu Lu, Shaoce Zhi, Jun Qin Mo and Min-Xin Guan

      Version of Record online: 30 MAY 2012 | DOI: 10.1002/humu.22109

    12. Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients (pages 1294–1301)

      Jukka Kantelinen, Minttu Kansikas, Satu Candelin, Heather Hampel, Betsy Smith, Liisa Holm, Reetta Kariola and Minna Nyström

      Version of Record online: 11 JUN 2012 | DOI: 10.1002/humu.22119

    13. Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB (pages 1302–1309)

      Christelle Borel, Eugenia Migliavacca, Audrey Letourneau, Maryline Gagnebin, Frédérique Béna, M. Reza Sailani, Emmanouil T. Dermitzakis, Andrew J. Sharp and Stylianos E. Antonarakis

      Version of Record online: 15 JUN 2012 | DOI: 10.1002/humu.22115

  9. Erratum

    1. Top of page
    2. In This Issue
    3. In Memoriam
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Erratum
    1. You have free access to this content
      Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (page 1310)

      Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Ros Quinlivan, Volker Straub, Adnan Y. Manzur, Helen Roper, Pierre-Yves Jeannet, Wojtek Rakowicz, David Hilton Jones, Uffe Birk Jensen, Elizabeth Wraige, Natalie Trump, Ulrike Schara, Hanns Lochmuller, Anna Sarkozy, Helen Kingston, Fiona Norwood, Maxwell Damian, Janbernd Kirschner, Cheryl Longman, Mark Roberts, Michaela Auer-Grumbach, Imelda Hughes, Kate Bushby, Caroline Sewry, Stephanie Robb, Stephen Abbs, Heinz Jungbluth and Francesco Muntoni

      Version of Record online: 13 JUL 2012 | DOI: 10.1002/humu.22136

      This article corrects:

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