Journal of Medical Genetics: 55 (3)

Therapeutics

Review: Gene editing as a promising approach for respiratory diseases (4 January, 2018)
Yichun Bai, Yang Liu, Zhenlei Su, Yana Ma, Chonghua Ren, Runzhen Zhao, Hong-Long Ji

Original Article: Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome (12 January, 2018)
Huixing Chen, Yong Zhu, Zijue Zhu, Erlei Zhi, Keming Lu, Xiaobo Wang, Feng Liu, Zheng Li, Weiliang Xia
Original Article:
P4HB recurrent missense mutation causing Cole-Carpenter syndrome
(20 December, 2017)
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, Nicholas J Bishop, M Zulf Mughal, Amaka C Offiah, Bart E Wagner, Janine McCaughey, David J Stephens

Original Article: A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews (13 January, 2018)
Martin De Boer, Ronit Gavrieli, Karin van Leeuwen, Haike Reznik Wolf, Maya Dushnitzki, Yifaat Bar-Yosef, Anat Bar-Ziv, Doron Behar, Shlomo Lipitz, Tal Elkan Miller, Anton T J Tool, Taco W Kuijpers, Timo K van den Berg, Baruch Wolach, Dirk Roos, Elon Pras

Original Article:
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome
(25 October, 2017)
Mariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, Pierre Fermey, Gwendoline Lienard, Jacqueline Bou, Sophie Coutant, Myriam Vezain, Edwige Kasper, Steeve Fourneaux, Sandrine Manase, Maud Blanluet, Bruno Leheup, Ludovic Mansuy, Jacqueline Champigneulle, Céline Chappé, Michel Longy, Nicolas Sévenet, Brigitte Bressac-de Paillerets, Léa Guerrini-Rousseau, Laurence Brugières, Olivier Caron, Jean-Christophe Sabourin, Isabelle Tournier, Stéphanie Baert-Desurmont, Thierry Frébourg, Gaëlle Bougeard
Original Article: Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk (27 October, 2017)
Lai Fun Thean, Yee Syuen Low, Michelle Lo, Yik-Ying Teo, Woon-Puay Koh, Jian-Min Yuan, Min Hoe Chew, Choong Leong Tang, Peh Yean Cheah

Original Article:
DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing
(13 January, 2018)
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan

Original Article: Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences (9 December, 2017) Free
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise Giabicani, Jean-Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude