Journal of Medical Genetics: 54 (8)

Neurogenetics

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause (13 January, 2017)
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, NISC Comparative Sequencing Program, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
First evidence of genotype–phenotype correlations in Gorlin syndrome (8 June, 2017)
D Gareth Evans, Deemesh Oudit, Miriam J Smith, David Rutkowski, Ernest Allan, William G Newman, John T Lear

A liminal stage after predictive testing for Huntington disease (13 January, 2017)
Marcela Gargiulo, Sophie Tezenas du Montcel, Marie France Jutras, Ariane Herson, Cecile Cazeneuve, Alexandra Durr

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy (25 March, 2017)
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome
(22 March, 2017)
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg

Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab (10 March, 2017)
Ayman Madi, David Fisher, Timothy S Maughan, James P Colley, Angela M Meade, Sabine Tejpar, Ben Van den Bosch, Julie Maynard, Vikki Humphreys, Harpreet Wasan, Richard A Adams, Shelley Idziaszczyk, Rebecca Harris, Richard S Kaplan, Jeremy P Cheadle
Comprehensive somatic genome alterations of urachal carcinoma (27 March, 2017)
Seungchul Lee, Jingu Lee, Sung Hoon Sim, Yeonghun Lee, Kyung Chul Moon, Cheol Lee, Woong-Yang Park, Nayoung KD Kim, Se-Hoon Lee, Hyunju Lee

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome
(31 March, 2017)
Yu Ikemoto, Yoshinaga Takayama, Katsunori Fujii, Mokuri Masuda, Chise Kato, Hiromi Hatsuse, Kazuko Fujitani, Kazuaki Nagao, Kohzoh Kameyama, Hajime Ikehara, Masashi Toyoda, Akihiro Umezawa, Toshiyuki Miyashita