GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, Willy M Nillesen, Ernie M H F Bongers, Anna Castells-Nobau, Lenke Asztalos, Erika Viragh, Bregje W M van Bon, Emre Tezel, Joris A Veltman, Han G Brunner, Bert B A de Vries, Joep de Ligt, Helger G YntemaSee the full list of authors
4 May 2013
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTRD Trujillano, M D Ramos, J González, C Tornador, F Sotillo, G Escaramis, S Ossowski, L Armengol, T Casals, X Estivill
17 May 2013
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclatureIsabelle Touitou
27 March 2013
Genetics of arrhythmogenic right ventricular cardiomyopathyOscar Campuzano, Mireia Alcalde, Catarina Allegue, Anna Iglesias, Pablo García-Pavía, Sara Partemi, Antonio Oliva, Vincenzo L Pascali, Paola Berne, Georgia Sarquella-Brugada, Josep Brugada, Pedro Brugada, Ramon Brugada
6 March 2013
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic diseaseChee-Seng Ku, Eng King Tan, David N Cooper
9 February 2013
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropySarah E Heron, Leanne M Dibbens
23 January 2013
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk, Kathleen E Sullivan, Stephen T Warren, Beverly S Emanuel, Joris R Vermeesch, Elaine H ZackaiSee the full list of authors
11 December 2012
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetimeLars Anders Forsberg, Devin Absher, Jan Piotr Dumanski
21 November 2012
Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary originPaula Tejera, Nuala J Meyer, Feng Chen, Rui Feng, Yang Zhao, D Shane O'Mahony, Lin Li, Chau-Chyun Sheu, Rihong Zhai, Zhaoxi Wang, Li Su, Ed Bajwa, Amy M Ahasic, Peter F Clardy, Michelle N GongSee the full list of authors
9 October 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam 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 SébireSee the full list of authors
25 September 2012