Journal of Medical Genetics: 49 (10)

Cancer genetics

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
(7 September, 2012)
Pascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, Julie Abdat, Françoise Révillion, Sandrine Caputo, Dominique Vaur, Estelle Jamard, Elodie Bohers, Danielle Ledemeney, Jean-Philippe Peyrat, Claude Houdayer, Etienne Rouleau, Rosette Lidereau, Thierry Frébourg, Agnès Hardouin, Mario Tosi, Alexandra Martins
Rare variants in XRCC2 as breast cancer susceptibility alleles (10 October, 2012)
Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, Javier Benitez, Christi J van Asperen, Peter Devilee

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm (10 October, 2012)
Tiia M Luukkonen, Minna Pöyhönen, Aarno Palotie, Pekka Ellonen, Sonja Lagström, Joseph H Lee, Joseph D Terwilliger, Riitta Salonen, Teppo Varilo
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
(10 October, 2012)
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, Eissa Faqeih, Nadia Alhashmi, Noon Mousa, Aisha Alsinani, Shinu Ansari, Fatema Alzahrani, Mohammed Al-Owain, Zayed S Alzayed, Fowzan S Alkuraya
Mutations in TMEM231 cause Joubert syndrome in French Canadians
(25 September, 2012) Free
Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation (7 September, 2012)
Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Emi Yamaguchi, Nobuyoshi Tamagawa

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia (10 October, 2012)
Marta Futema, Vincent Plagnol, Ros A Whittall, H Andrew W Neil, Steve Eric Humphries

De novo copy number variants are associated with congenital diaphragmatic hernia (10 October, 2012)
Lan Yu, Julia Wynn, Lijiang Ma, Saurav Guha, George B Mychaliska, Timothy M Crombleholme, Kenneth S Azarow, Foong Yen Lim, Dai H Chung, Douglas Potoka, Brad W Warner, Brian Bucher, Charles A LeDuc, Katherine Costa, Charles Stolar, Gudrun Aspelund, Marc S Arkovitz, Wendy K Chung
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders (10 October, 2012)
Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W Andrew Faucett, Robin P Goin-Kochel, Ellen Grant, Louise Harewood, Jill V Hunter, Sébastien Lebon, David H Ledbetter, Christa Lese Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B Ramocki, Sarah J Spence, Kyle J Steinman, Jennifer Tjernagel, John E Spiro, Alexandre Reymond, Jacques S Beckmann, Wendy K Chung, Sébastien Jacquemont, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium