Journal of Medical Genetics: 50 (4)

Review

Original article:
Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture
(24 January, 2013)
Joo-Yeon Hwang, Seung Hun Lee, Min Jin Go, Beom-Jun Kim, Ikuyo Kou, Shiro Ikegawa, Yan Guo, Hong-Wen Deng, Soumya Raychaudhuri, Young Jin Kim, Ji Hee Oh, Youngdoe Kim, Sanghoon Moon, Dong-Joon Kim, Heejo Koo, My-Jung Cha, Min Hye Lee, Ji Young Yun, Hye-Sook Yoo, Young-Ah Kang, Eun-Hee Cho, Sang-Wook Kim, Ki Won Oh, Moo Il Kang, Ho Young Son, Shin-Yoon Kim, Ghi Su Kim, Bok-Ghee Han, Yoon Shin Cho, Myeong-Chan Cho, Jong-Young Lee, Jung-Min Koh

Original article: CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders (1 February, 2013)
Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Guy Lalau, Elodie Gautier, Jacques Rollet, Jean Flori, Raphaëlle Nové-Josserand, Jean-Claude Soufir, Alain Haloun, Dominique Hubert, Elise Houssin, Gil Bellis, Gilles Rault, Albert David, Laurent Janny, Raphaël Chiron, Nathalie Rives, Dominique Hairion, Patrick Collignon, Antoine Valeri, Gilles Karsenty, Annick Rossi, Marie-Pierre Audrézet, Claude Férec, Julie Leclerc, Marie des Georges, Mireille Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, David Cheillan, Delphine Feldmann, Christine Clavel, Eric Bieth, Albert Iron, Brigitte Simon-Bouy, Vincent Izard, Julie Steffann, Stéphane Viville, Catherine Costa, Véronique Drouineaud, Patricia Fauque, Christine Binquet, Claire Bonithon-Kopp, Mike A Morris, Laurence Faivre, Michel Goossens, Michel Roussey, Emmanuelle Girodon, the collaborating working group on p.Arg117His
Original article: Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing (8 February, 2013)
Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott

Original article:
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
(7 February, 2013)
Simon Edvardson, Vito Porcelli, Chaim Jalas, Devorah Soiferman, Yuval Kellner, Avraham Shaag, Stanley H Korman, Ciro Leonardo Pierri, Pasquale Scarcia, Nitay D Fraenkel, Reeval Segel, Abraham Schechter, Ayala Frumkin, Ophry Pines, Ann Saada, Luigi Palmieri, Orly Elpeleg

Original article: Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis (24 January, 2013)
Vincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, Vachiranee Limviphuvadh, Thomas Patrick Klemm, Elizabeth St Germain, Pierre R Fournié, Céline Guillaud, Sebastian Maurer-Stroh, Felicia Hawthorne, Cyrielle Suarez, Bernadette Kantelip, Natalie A Afshari, Isabelle Creveaux, Xiaoyan Luo, Weihua Meng, Patrick Calvas, Myriam Cassagne, Jean-Louis Arné, Steven G Rozen, François Malecaze, Terri L Young

Original article:
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
(18 January, 2013)
Virginie Bubien, Françoise Bonnet, Veronique Brouste, Stéphanie Hoppe, Emmanuelle Barouk-Simonet, Albert David, Patrick Edery, Armand Bottani, Valérie Layet, Olivier Caron, Brigitte Gilbert-Dussardier, Capucine Delnatte, Catherine Dugast, Jean-Pierre Fricker, Dominique Bonneau, Nicolas Sevenet, Michel Longy, Frédéric Caux, French Cowden Disease Network
Original article:
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
(5 February, 2013)
Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo, Paola Grammatico, Mark Harland, Nicholas K Hayward, Hui-Han Hu, Thomas Jouary, Tanguy Martin-Denavit, Aija Ozola, Jane M Palmer, Lorenza Pastorino, Dace Pjanova, Nadem Soufir, Solrun J Steine, Alexander J Stratigos, Luc Thomas, Julie Tinat, Hensin Tsao, Rūta Veinalde, Margaret A Tucker, Brigitte Bressac-de Paillerets, Julia A Newton-Bishop, Alisa M Goldstein, Lars A Akslen, Anders Molven