Journal of Medical Genetics: 52 (4)

Review

Original article: BRCA1 Circos: a visualisation resource for functional analysis of missense variants (2 February, 2015)
Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, Bailey Kessing, Renato S Carvalho, Phillip Whiley, Amanda B Spurdle, Maaike P G Vreeswijk, Sandrine M Caputo, Gael A Millot, Ana Vega, Nicolas Coquelle, Alvaro Galli, Diana Eccles, Marinus J Blok, Tuya Pal, Rob B van der Luijt, Marta Santamariña Pena, Susan L Neuhausen, Talia Donenberg, Eva Machackova, Simon Thomas, Maxime Vallée, Fergus J Couch, Sean V Tavtigian, J N Mark Glover, Marcelo A Carvalho, Lawrence C Brody, Shyam K Sharan, Alvaro N Monteiro,
Original article: Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma (20 January, 2015) Free
Justin Rendleman, Matjaz Vogelsang, Anuj Bapodra, Christina Adaniel, Ines Silva, Duane Moogk, Carlos N Martinez, Nathaniel Fleming, Jerry Shields, Richard Shapiro, Russell Berman, Anna Pavlick, David Polsky, Yongzhao Shao, Iman Osman, Michelle Krogsgaard, Tomas Kirchhoff

Original article:
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
(20 January, 2015)
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Wolfgang Hoepffner, James German, Trevor Cole, Jillian Mann, John H Seguin, William Zipf, Colm Costigan, Hardi Schmiady, Moritz Rostásy, Mildred Kramer, Simon Kaltenbach, Bernd Rösler, Ina Georg, Elke Troppmann, Anne-Christin Teichmann, Anika Salfelder, Sebastian A Widholz, Peter Wieacker, Olaf Hiort, Giovanna Camerino, Orietta Radi, Michael Wegner, Hans-Henning Arnold, Gerd Scherer

Original article: Metabolic abnormalities in Williams–Beuren syndrome (6 February, 2015)
María Gabriela Palacios-Verdú, Maria Segura-Puimedon, Cristina Borralleras, Raquel Flores, Miguel Del Campo, Victoria Campuzano, Luis Alberto Pérez-Jurado

Original article: Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 (22 January, 2015)
David W Sant, Rebecca L Margraf, David A Stevenson, Allie H Grossmann, David H Viskochil, Heather Hanson, Melanie D Everitt, Jonathan J Rios, Florent Elefteriou, Theresa Hennessey, Rong Mao
Original article: Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease (16 January, 2015)
Bouwien E Smid, Linda van der Tol, Marieke Biegstraaten, Gabor E Linthorst, Carla E M Hollak, Ben J H M Poorthuis

Short report: A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A (22 January, 2015)
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Tiziana Nardo, Giuseppina Caligiuri, Lynne Hobson, Jackie Boyle, Albert Mansour, Kathryn L Friend, Jo Crawford, Graeme Jackson, Lucianne Vandeleur, Anna Hackett, Patrick Tarpey, Michael R Stratton, Gillian Turner, Jozef Gécz, Michael Field

Original article: mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing (16 January, 2015)
Jinchen Li, Yi Jiang, Tao Wang, Huiqian Chen, Qing Xie, Qianzhi Shao, Xia Ran, Kun Xia, Zhong Sheng Sun, Jinyu Wu
Original article: SeqHBase: a big data toolset for family based sequencing data analysis (13 January, 2015)
Min He, Thomas N Person, Scott J Hebbring, Ethan Heinzen, Zhan Ye, Steven J Schrodi, Elizabeth W McPherson, Simon M Lin, Peggy L Peissig, Murray H Brilliant, Jason O'Rawe, Reid J Robison, Gholson J Lyon, Kai Wang