Special collections

Special collections

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
Hui Dong, Khyati Chandratre, Yue Qin, Jing Zhang, Xiaoqing Tian, Ce Rong, Ning Wang, Maoni Guo, Guoping Zhao, San Ming Wang

Journal of Medical Genetics May 2020, jmedgenet-2020-106970; DOI: 10.1136/jmedgenet-2020-106970
Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Ken Higashimoto, Hijiri Watanabe, Yuka Tanoue, Hidefumi Tonoki, Tomoharu Tokutomi, Satoshi Hara, Hitomi Yatsuki, Hidenobu Soejima

Journal of Medical Genetics May 2020, jmedgenet-2020-106907; DOI: 10.1136/jmedgenet-2020-106907
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen, Sujuan Wang, Xiu Xu, Wenhao Zhou, Yulan Lu

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106377; DOI: 10.1136/jmedgenet-2019-106377
Correction: Reasons for and time to retraction of genetics articles published between 1970 and 2018
Journal of Medical Genetics Jun 2020, 57 (6) 435-436; DOI: 10.1136/jmedgenet-2019-106137corr1
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard

Journal of Medical Genetics Jun 2020, 57 (6) 389-399; DOI: 10.1136/jmedgenet-2019-106474
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis
Heng Jiang, Shulun Liang, Kai He, Jinghua Hu, Enjie Xu, Tao Lin, Yichen Meng, Jianquan Zhao, Jun Ma, Rui Gao, Ce Wang, Fu Yang, Xuhui Zhou

Journal of Medical Genetics Jun 2020, 57 (6) 405-413; DOI: 10.1136/jmedgenet-2019-106411
ATR-16 syndrome: mechanisms linking monosomy to phenotype
Christian Babbs, Jill Brown, Sharon W Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon-McIver, Cornelis L Harteveld, Jan Traeger-Synodinos, Andrew O M Wilkie, Douglas R Higgs, Veronica J Buckle

Journal of Medical Genetics Jun 2020, 57 (6) 414-421; DOI: 10.1136/jmedgenet-2019-106528
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani

Journal of Medical Genetics May 2020, jmedgenet-2020-106861; DOI: 10.1136/jmedgenet-2020-106861
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects
Silvia Kalantari, Isabel Filges

Journal of Medical Genetics May 2020, jmedgenet-2019-106769; DOI: 10.1136/jmedgenet-2019-106769
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

Journal of Medical Genetics May 2020, jmedgenet-2019-106084; DOI: 10.1136/jmedgenet-2019-106084

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