Human Mutation

Copyright © 2013 Wiley Periodicals Inc.

Cover image for Vol. 33 Issue 6

Special Issue: Focus on CNV Detection with Diagnostic Arrays

June 2012

Volume 33, Issue 6

Pages v–v, 905–1019, E2341–E2355

Issue edited by: Birgit Sikkema-Raddatz, Rolf H. Sijmons

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      Retinitis pigmentosa: More genes, more variants, more work (page v)

      Johan T. den Dunnen

      Article first published online: 8 MAY 2012 | DOI: 10.1002/humu.22574

    2. You have free access to this content
      Reading through nonsense as therapy for propionic acidemia? (page v)

      Brage Storstein Andresen

      Article first published online: 8 MAY 2012 | DOI: 10.1002/humu.22575

  2. Editorial

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      The use of arrays to detect copy-number variations in clinical practice (page 905)

      Birgit Sikkema-Raddatz and Rolf H. Sijmons

      Article first published online: 8 MAY 2012 | DOI: 10.1002/humu.22084

  3. Special Articles

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics (pages 906–915)

      Joris R. Vermeesch, Paul D. Brady, Damien Sanlaville, Klaas Kok and Rosalind J. Hastings

      Article first published online: 7 MAY 2012 | DOI: 10.1002/humu.22076

    2. You have free access to this content
      Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent (pages 916–922)

      Wybo Dondorp, Birgit Sikkema-Raddatz, Christine de Die-Smulders and Guido de Wert

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22068

    3. You have free access to this content
      The introduction of arrays in prenatal diagnosis: A special challenge (pages 923–929)

      Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic J. McMullan, Joris R. Vermeesch, Konstantin Miller, Birgit Sikkema-Raddatz, David H. Ledbetter, Orsetta Zuffardi and Conny M.A. van Ravenswaaij-Arts

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22050

    4. You have free access to this content
      Diagnostic interpretation of array data using public databases and internet sources (pages 930–940)

      Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W. Scherer, Soheil Shams, Steven Van Vooren, Rolf Sijmons, Morris Swertz and Ros Hastings

      Article first published online: 7 MAY 2012 | DOI: 10.1002/humu.22049

  4. Reviews

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      Genome-wide arrays in routine diagnostics of hematological malignancies (pages 941–948)

      Annet Simons, Birgit Sikkema-Raddatz, Nicole de Leeuw, Nicole Claudia Konrad, Rosalind J. Hastings and Jacqueline Schoumans

      Article first published online: 9 APR 2012 | DOI: 10.1002/humu.22057

  5. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy (pages 949–959)

      Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S. B. Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E. Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A. H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie A. Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H. Beggs and Jocelyn Laporte

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22067

  6. Brief Reports

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus (pages 960–962)

      Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed H. Alghamdi and Fowzan S. Alkuraya

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22071

  7. Research Articles

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have full text access to this OnlineOpen article
      Next-generation genetic testing for retinitis pigmentosa (pages 963–972)

      Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers and Hans Scheffer

      Article first published online: 19 MAR 2012 | DOI: 10.1002/humu.22045

      Corrected by:

      Erratum: Next Generation Genetic Testing for Retinitis Pigmentosa

      Article first published online: 12 JUN 2013

    2. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia (pages 973–980)

      Rocío Sánchez-Alcudia, Belén Pérez, Magdalena Ugarte and Lourdes R. Desviat

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22047

    3. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies (pages 981–988)

      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

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22056

      Corrected by:

      Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

      Article first published online: 13 JUL 2012

    4. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death (pages 989–997)

      John R. Giudicessi, Dan Ye, Chad J. Kritzberger, Vladislav V. Nesterenko, David J. Tester, Charles Antzelevitch and Michael J. Ackerman

      Article first published online: 27 MAR 2012 | DOI: 10.1002/humu.22058

  8. Methods

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2 (pages 998–1009)

      Kevin Cheeseman, Etienne Rouleau, Anne Vannier, Aurélie Thomas, Adrien Briaux, Cedrick Lefol, Pierre Walrafen, Aaron Bensimon, Rosette Lidereau, Emmanuel Conseiller and Maurizio Ceppi

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22060

    2. Ribo-polymerase chain reaction—A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing (pages 1010–1015)

      Florence Mauger, Keith Bauer, Jérémy Semhoun, Thomas W. Myers, David H. Gelfand and Ivo G. Gut

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22061

  9. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      Maps for the world of genomic medicine: The 2011 CSHL Personal Genomes meeting (pages 1016–1019)

      Xiangqun Zheng-Bradley and Paul Flicek

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22024

  10. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Editorial
    4. Special Articles
    5. Reviews
    6. Mutation Updates
    7. Brief Reports
    8. Research Articles
    9. Methods
    10. Meeting Reports
    11. Databases in Brief
    1. You have free access to this content
      NGS catalog: A database of next generation sequencing studies in humans (pages E2341–E2355)

      Junfeng Xia, Qingguo Wang, Peilin Jia, Bing Wang, William Pao and Zhongming Zhao

      Article first published online: 19 APR 2012 | DOI: 10.1002/humu.22096

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