Table of contents

Original articles

• Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa (8 December, 2010)

  David A Simpson, Graeme R Clark, Sharon Alexander, Giuliana Silvestri, Colin E Willoughby
• Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

  (23 October, 2010)

  Estelle Lopez, Victoria Viart, Caroline Guittard, Carine Templin, Céline René, Déborah Méchin, Marie Des Georges, Mireille Claustres, Marie-Catherine Romey-Chatelain, Magali Taulan
• The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen (26 November, 2010)

  Peter C van den Akker, Jemima E Mellerio, Anna E Martinez, Lu Liu, Rowdy Meijer, Patricia J C Dopping-Hepenstal, Anthonie J van Essen, Hans Scheffer, Robert M W Hofstra, John A McGrath, Marcel F Jonkman
• Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair (19 November, 2010)

  Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer
• TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome (8 December, 2010)

  Ronen Spiegel, Morad Khayat, Stavit A Shalev, Yoseph Horovitz, Hanna Mandel, Eli Hershkovitz, Flora Barghuti, Avraham Shaag, Ann Saada, Stanley H Korman, Orly Elpeleg, Ido Yatsiv
• LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

  (25 January, 2011)

  François-Guillaume Debray, Charles Morin, Annie Janvier, Josée Villeneuve, Bruno Maranda, Rachel Laframboise, Jacques Lacroix, Jean-Claude Decarie, Yves Robitaille, Marie Lambert, Brian H Robinson, Grant A Mitchell
• Genetic architecture of open angle glaucoma and related determinants (7 November, 2010)

  Wishal D Ramdas, Najaf Amin, Leonieke M E van Koolwijk, A Cecile J W Janssens, Ayse Demirkan, Paulus T V M de Jong, Yurii S Aulchenko, Roger C W Wolfs, Albert Hofman, Fernando Rivadeneira, Andre G Uitterlinden, Ben A Oostra, Hans G Lemij, Caroline C W Klaver, Johannes R Vingerling, Nomdo M Jansonius, Cornelia M van Duijn
• High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia (28 January, 2011)

  Serena Nik-Zainal, Reiner Strick, Mekayla Storer, Ni Huang, Roland Rad, Lionel Willatt, Tomas Fitzgerald, Vicki Martin, Richard Sandford, Nigel P Carter, Andreas R Janecke, Stefan P Renner, Patricia G Oppelt, Peter Oppelt, Christine Schulze, Sara Brucker, Matthew Hurles, Matthias W Beckmann, Pamela L Strissel, Charles Shaw-Smith