Genetic screening/counselling

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation
Patrick R Benusiglio, Chystelle Colas, Etienne Rouleau, Nancy Uhrhammer, Pierre Romero, Audrey Remenieras, Jessica Moretta, Qing Wang, Antoine De Pauw, Bruno Buecher, Dominique Stoppa-Lyonnet, Emmanuelle Mouret-Fourme, Catherine Noguès, Marina Di Maria, Camille Tlemsani, Mathilde Warcoin, Sophie Grandjouan, David Malka, Olivier Caron, Martine Blayau

Journal of Medical Genetics Aug 2015, 52 (8) 563-565; DOI: 10.1136/jmedgenet-2015-103153
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects
Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Patricia Harrington, Caroline Baynes, Ranjit Manchanda, Douglas F Easton, Ian Jacobs, Paul P D Pharoah, Antonis C Antoniou

Journal of Medical Genetics Jul 2015, 52 (7) 465-475; DOI: 10.1136/jmedgenet-2015-103077
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
Jordan Lerner-Ellis, Marina Wang, Shana White, Matthew S Lebo, and the Canadian Open Genetics Repository Group

Journal of Medical Genetics Jul 2015, 52 (7) 438-445; DOI: 10.1136/jmedgenet-2014-102933
The twisting tale of woolly hair: a trait with many causes
Yuval Ramot, Abraham Zlotogorski

Journal of Medical Genetics Apr 2015, 52 (4) 217-223; DOI: 10.1136/jmedgenet-2014-102630
Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, Bert Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

Journal of Medical Genetics Mar 2015, 52 (3) 163-174; DOI: 10.1136/jmedgenet-2014-102822
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis
Wu Jing, Hao Zongjie, Fu Denggang, Hei Na, Zhang Bin, Zhou Aifen, Hu Xijiang, Yao Cong, Dong Yunping, Huijun Z Ring, Brian Z Ring

Journal of Medical Genetics Feb 2015, 52 (2) 95-103; DOI: 10.1136/jmedgenet-2014-102753
Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation
Chia-Ti Tsai, Chia-Shan Hsieh, Sheng-Nan Chang, Eric Y Chuang, Jyh-Ming Jimmy Juang, Lian-Yu Lin, Ling-Ping Lai, Juey-Jen Hwang, Fu-Tien Chiang, Jiunn-Lee Lin

Journal of Medical Genetics Jan 2015, 52 (1) 28-36; DOI: 10.1136/jmedgenet-2014-102618
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Johann Böhm, Frédéric Chevessier, Catherine Koch, G Arielle Peche, Marina Mora, Lucia Morandi, Barbara Pasanisi, Isabella Moroni, Giorgio Tasca, Fabiana Fattori, Enzo Ricci, Isabelle Pénisson-Besnier, Aleksandra Nadaj-Pakleza, Michel Fardeau, Pushpa Raj Joshi, Marcus Deschauer, Norma Beatriz Romero, Bruno Eymard, Jocelyn Laporte

Journal of Medical Genetics Dec 2014, 51 (12) 824-833; DOI: 10.1136/jmedgenet-2014-102623
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah

Journal of Medical Genetics Nov 2014, 51 (11) 748-755; DOI: 10.1136/jmedgenet-2014-102624
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis
Hongzhou Cui, Longnian Li, Wenjun Wang, Jie Shen, Zhen Yue, Xiaodong Zheng, Xianbo Zuo, Bo Liang, Min Gao, Xing Fan, Xianyong Yin, Changbing Shen, Chao Yang, Change Zhang, Xiaoguang Zhang, Yujun Sheng, Jinping Gao, Zhengwei Zhu, Da Lin, Anping Zhang, Zaixing Wang, Shengxiu Liu, Liangdan Sun, Sen Yang, Yong Cui, Xuejun Zhang

Journal of Medical Genetics Oct 2014, 51 (10) 699-704; DOI: 10.1136/jmedgenet-2014-102486

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