Journal of Medical Genetics: 51 (11)

Complex traits

Defining and managing incidental findings in genetic and genomic practice (16 September, 2014)
Shiri Shkedi-Rafid, Sandi Dheensa, Gillian Crawford, Angela Fenwick, Anneke Lucassen

Original article: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing (28 August, 2014)
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton
Original article:
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
(16 September, 2014)
Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie

Original article: Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis (5 September, 2014)
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah

Original article: Factors determining penetrance in familial atypical haemolytic uraemic syndrome (26 September, 2014)
Francis H Sansbury, Heather J Cordell, Coralie Bingham, Gilly Bromilow, Anthony Nicholls, Roy Powell, Bev Shields, Lucy Smyth, Paul Warwicker, Lisa Strain, Valerie Wilson, Judith A Goodship, Timothy H J Goodship, Peter D Turnpenny

Original article: Clinical interpretation of CNVs with cross-species phenotype data (3 October, 2014)
Sebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, Sandra C Doelken, Jayne Y Hehir-Kwa, Jonas Ibn-Salem, Christopher J Mungall, Damian Smedley, Melissa A Haendel, Peter N Robinson