Journal of Medical Genetics: 56 (3)

Mithocondrial genetics

Review: Diagnosis of ‘possible’ mitochondrial disease: an existential crisis (25 January, 2019)
Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia Stockler, Carolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman

Original article: Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank (20 October, 2018) Free
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O’Donovan, Michael J Owen, George Kirov

Original article:
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
(21 November, 2018)
Daniel Halperin, Rotem Kadir, Yonatan Perez, Max Drabkin, Yuval Yogev, Ohad Wormser, Erez M Berman, Ekaterina Eremenko, Barak Rotblat, Zamir Shorer, Libe Gradstein, Ilan Shelef, Ruth Birk, Uri Abdu, Hagit Flusser, Ohad S Birk

Short report: Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study (5 May, 2018)
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll

Original article: Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data (4 December, 2018)
Jun-Yu Ma, Li-Ying Yan, Zhen-Bo Wang, Shi-Ming Luo, William S B Yeung, Xiang-Hong Ou, Qing-Yuan Sun, Jie Qiao

Original article:
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
(28 November, 2018)
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke

Original article: Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning (19 December, 2018)
Jian Huang, Zhaoyang Qian, Yuhua Gong, Yanzhou Wang, Yanfang Guan, Yingxin Han, Xin Yi, Wanqiu Huang, Liyan Ji, Jiajia Xu, Mengyuan Su, Qing Yuan, Shujian Cui, Jinling Zhang, Chaohui Bao, Weilong Liu, Xi Chen, Ming Zhang, Xiaohuan Gao, Renhua Wu, Yinxin Zhang, Huicheng Xu, Shida Zhu, Hongmei Zhu, Ling Yang, Xun Xu, Pingyu Zhou, Zhiqing Liang
Short report: Mainstreamed genetic testing for women with ovarian cancer: first-year experience (13 March, 2018)
Belinda Rahman, Anne Lanceley, Rebecca S Kristeleit, Jonathan A Ledermann, Michelle Lockley, Mary McCormack, Tim Mould, Lucy Side