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In This Issue
Free Access

Retinitis pigmentosa: More genes, more variants, more work

Johan T. den Dunnen, 
  • Page: v
  • First Published: 08 May 2012
In This Issue
Free Access

Reading through nonsense as therapy for propionic acidemia?

Brage Storstein Andresen, 
  • Page: v
  • First Published: 08 May 2012

Editorial
Free Access

The use of arrays to detect copy-number variations in clinical practice

Birgit Sikkema-Raddatz,  Rolf H. Sijmons, 
  • Page: 905
  • First Published: 08 May 2012

Special Article
Free Access

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics†

Joris R. Vermeesch,  Paul D. Brady,  Damien Sanlaville,  Klaas Kok,  Rosalind J. Hastings, 
  • Pages: 906-915
  • First Published: 13 March 2012
Special Article
Free Access

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent†

Wybo Dondorp,  Birgit Sikkema-Raddatz,  Christine de Die-Smulders,  Guido de Wert, 
  • Pages: 916-922
  • First Published: 06 March 2012
Special Article
Free Access

The introduction of arrays in prenatal diagnosis: A special challenge†

Annalisa Vetro,  Katelijne Bouman,  Ros Hastings,  Dominic J. McMullan,  Joris R. Vermeesch,  Konstantin Miller,  Birgit Sikkema-Raddatz,  David H. Ledbetter,  Orsetta Zuffardi,  Conny M.A. van Ravenswaaij-Arts, 
  • Pages: 923-929
  • First Published: 13 February 2012
Special Article
Free Access

Diagnostic interpretation of array data using public databases and internet sources†

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,  Ros Hastings, 
  • Pages: 930-940
  • First Published: 14 February 2012

Review
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Genome-wide arrays in routine diagnostics of hematological malignancies†

Annet Simons,  Birgit Sikkema-Raddatz,  Nicole de Leeuw,  Nicole Claudia Konrad,  Rosalind J. Hastings,  Jacqueline Schoumans, 
  • Pages: 941-948
  • First Published: 21 February 2012

Mutation Update
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Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy†

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,  Jocelyn Laporte, 
  • Pages: 949-959
  • First Published: 06 March 2012

Brief Report
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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus†

Mohammed A. Aldahmesh,  Arif O. Khan,  Jawahir Y. Mohamed,  Mohammed H. Alghamdi,  Fowzan S. Alkuraya, 
  • Pages: 960-962
  • First Published: 13 March 2012

Research Article
Open Access

Next-generation genetic testing for retinitis pigmentosa†

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,  Hans Scheffer, 
  • Pages: 963-972
  • First Published: 14 February 2012

Research Article
Full Access

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia†

Rocío Sánchez-Alcudia,  Belén Pérez,  Magdalena Ugarte,  Lourdes R. Desviat, 
  • Pages: 973-980
  • First Published: 14 February 2012
Research Article
Full Access

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

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,  Francesco Muntoni, 
  • Pages: 981-988
  • First Published: 21 February 2012

Research Article
Full Access

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death†

John R. Giudicessi,  Dan Ye,  Chad J. Kritzberger,  Vladislav V. Nesterenko,  David J. Tester,  Charles Antzelevitch,  Michael J. Ackerman, 
  • Pages: 989-997
  • First Published: 21 February 2012

Methods
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A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2†

Kevin Cheeseman,  Etienne Rouleau,  Anne Vannier,  Aurélie Thomas,  Adrien Briaux,  Cedrick Lefol,  Pierre Walrafen,  Aaron Bensimon,  Rosette Lidereau,  Emmanuel Conseiller,  Maurizio Ceppi, 
  • Pages: 998-1009
  • First Published: 21 February 2012
Methods
Full Access

Ribo-polymerase chain reaction—A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing†

Florence Mauger,  Keith Bauer,  Jérémy Semhoun,  Thomas W. Myers,  David H. Gelfand,  Ivo G. Gut, 
  • Pages: 1010-1015
  • First Published: 21 February 2012

Meeting Report
Free Access

Maps for the world of genomic medicine: The 2011 CSHL Personal Genomes meeting

Xiangqun Zheng-Bradley,  Paul Flicek, 
  • Pages: 1016-1019
  • First Published: 17 January 2012

Database in Brief
Free Access

NGS catalog: A database of next generation sequencing studies in humans†

Junfeng Xia,  Qingguo Wang,  Peilin Jia,  Bing Wang,  William Pao,  Zhongming Zhao, 
  • Pages: E2341-E2355
  • First Published: 19 April 2012