Journal of Medical Genetics: 51 (2)

Review

Original article:
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
(21 November, 2013)
John H Livingston, Jean-Pierre Lin, Russell C Dale, Deepak Gill, Paul Brogan, Arnold Munnich, Manju A Kurian, Victoria Gonzalez-Martinez, Christian G E L De Goede, Alastair Falconer, Gabriella Forte, Emma M Jenkinson, Paul R Kasher, Marcin Szynkiewicz, Gillian I Rice, Yanick J Crow

Original article: Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal (19 November, 2013)
A V Postma, M Alders, M Sylva, C M Bilardo, E Pajkrt, R R van Rijn, S Schulte-Merker, S Bulk, S Stefanovic, A Ilgun, P Barnett, M M A M Mannens, A F M Moorman, R J Oostra, M C van Maarle

Original article: Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations (27 November, 2013)
Richard M Brohet, Maria E Velthuizen, Frans B L Hogervorst, Hanne EJ Meijers-Heijboer, Caroline Seynaeve, Margriet J Collée, Senno Verhoef, Margreet G E M Ausems, Nicoline Hoogerbrugge, Christi J van Asperen, Encarna Gómez García, Fred Menko, Jan C Oosterwijk, Peter Devilee, Laura J van't Veer, Flora E van Leeuwen, Douglas F Easton, Matti A Rookus, Antonis C Antoniou, HEBON Resource
Original article: Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants (25 November, 2013)
Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Jonathan Tyrer, Patricia Harrington, Douglas F Easton, Ian J Jacobs, Paul P D Pharoah, Antonis C Antoniou
Original article:
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening
(16 December, 2013)
Bernard Bonaïti, Flora Alarcon, Nadine Andrieu, Valérie Bonadona, Marie-Gabrielle Dondon, Sophie Pennec, Dominique Stoppa-Lyonnet, Catherine Bonaïti-Pellié, Hervé Perdry

Original article: A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus (16 December, 2013)
Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, Bert H Eussen, Annelies de Klein, Marjolein J Peters, Bjarni Halldorsson, Ching-Ti Liu, Nerea Alonso, Stephen K Kaptoge, Gudmar Thorleifsson, Göran Hallmans, Lynne J Hocking, Lise Bjerre Husted, Karen A Jameson, Marcin Kruk, Joshua R Lewis, Millan S Patel, Serena Scollen, Olle Svensson, Stella Trompet, Natasja M van Schoor, Kun Zhu, Brendan M Buckley, Cyrus Cooper, Ian Ford, David Goltzman, Jesús González-Macías, Bente Lomholt Langdahl, William D Leslie, Paul Lips, Roman S Lorenc, José M Olmos, Ulrika Pettersson-Kymmer, David M Reid, José A Riancho, P Eline Slagboom, Carmen Garcia-Ibarbia, Thorvaldur Ingvarsson, Hrefna Johannsdottir, Robert Luben, Carolina Medina-Gómez, Pascal Arp, Kannabiran Nandakumar, Stefan Th Palsson, Gunnar Sigurdsson, Joyce B J van Meurs, Yanhua Zhou, Albert Hofman, J Wouter Jukema, Huibert A P Pols, Richard L Prince, L Adrienne Cupples, Christian R Marshall, Dalila Pinto, Daisuke Sato, Stephen W Scherer, Jonathan Reeve, Unnur Thorsteinsdottir, David Karasik, J Brent Richards, Kari Stefansson, André G Uitterlinden, Stuart H Ralston, John P A Ioannidis, Douglas P Kiel, Fernando Rivadeneira, Karol Estrada

Short report:
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
(11 September, 2013)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus
Original article:
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
(6 December, 2013)
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice, Ali Benomar, Giovanni Stevanin, Markus Schuelke, Simon Edvardson