Journal of Medical Genetics: 49 (8)

Policy

Neurofibromatosis type 1: from genotype to phenotype (12 August, 2012) Free
Eric Pasmant, Michel Vidaud, Dominique Vidaud, Pierre Wolkenstein

Original article: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes (7 July, 2012)
Claire Redin, Stéphanie Le Gras, Oussema Mhamdi, Véronique Geoffroy, Corinne Stoetzel, Marie-Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Ines Ouertani, Florence Petit, Marianne Till, Alain Verloes, Bernard Jost, Habiba Bouhamed Chaabouni, Helene Dollfus, Jean-Louis Mandel, Jean Muller
Original article: Quantitative trait locus analysis for next-generation sequencing with the functional linear models (12 August, 2012)
Li Luo, Yun Zhu, Momiao Xiong

Original article: BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk (12 August, 2012)
Amanda B Spurdle, Phillip J Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A Brown, Christopher Pettigrew, kConFab, Christi J Van Asperen, Margreet G E M Ausems, Anna A Kattentidt-Mouravieva, Ans M W van den Ouweland, Dutch Belgium UV Consortium, Annika Lindblom, Maritta H Pigg, Rita K Schmutzler, Christoph Engel, Alfons Meindl, German Consortium of Hereditary Breast and Ovarian Cancer, Sandrine Caputo, Olga M Sinilnikova, Rosette Lidereau, French COVAR group collaborators, Fergus J Couch, Lucia Guidugli, Thomas van Overeem Hansen, Mads Thomassen, Diana M Eccles, Kathy Tucker, Javier Benitez, Susan M Domchek, Amanda E Toland, Elizabeth J Van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P G Vreeswijk, David E Goldgar

Original article:
PAPSS2 mutations cause autosomal recessive brachyolmia
(11 July, 2012)
Noriko Miyake, Nursel H Elcioglu, Aritoshi Iida, Pinar Isguven, Jin Dai, Nobuyuki Murakami, Kazuyuki Takamura, Tae-Joon Cho, Ok-Hwa Kim, Tomonobu Hasegawa, Toshiro Nagai, Hirofumi Ohashi, Gen Nishimura, Naomichi Matsumoto, Shiro Ikegawa
Short report:
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
(12 August, 2012)
Magdalena Harakalova, Marie-Jose van den Boogaard, Richard Sinke, Stef van Lieshout, Marc C van Tuil, Karen Duran, Ivo Renkens, Paulien A Terhal, Carolien de Kovel, Ies J Nijman, Mieke van Haelst, Nine V A M Knoers, Gijs van Haaften, Wigard Kloosterman, Raoul C M Hennekam, Edwin Cuppen, Hans Kristian Ploos van Amstel