Journal of Medical Genetics: 56 (11)

Biochemical genetics

Original research:
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
(5 June, 2019)
Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair

Original research: Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions (22 August, 2019)
Shuo Zhang, Fan Liang, Caixia Lei, Junping Wu, Jing Fu, Qi Yang, Xiao Luo, Guoliang Yu, Depeng Wang, Yueping Zhang, Daru Lu, Xiaoxi Sun, Yu Liang, Congjian Xu

Original research:
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
(14 August, 2019)
Weili Wang, Chaofeng Tu, Hongchuan Nie, Lanlan Meng, Yong Li, Shimin Yuan, Qianjun Zhang, Juan Du, Junpu Wang, Fei Gong, Liqing Fan, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan

Original research:
Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
(14 August, 2019)
Jianwen Deng, Muliang Gu, Yu Miao, Sheng Yao, Min Zhu, Pu Fang, Xuefan Yu, Pidong Li, Yanan Su, Jian Huang, Jun Zhang, Jiaxi Yu, Fan Li, Jing Bai, Wei Sun, Yining Huang, Yun Yuan, Daojun Hong, Zhaoxia Wang
Short report: Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression (27 February, 2019)
Xiao Deng, Bin Xiao, John Carson Allen, Ebonne Ng, Jia Nee Foo, Yew-Long Lo, Louis C S Tan, Eng-King Tan

Original research:
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
(31 July, 2019)
Zuzanna Bukowy-Bieryllo, Alicja Rabiasz, Maciej Dabrowski, Andrzej Pogorzelski, Alina Wojda, Hanna Dmenska, Katarzyna Grzela, Jakub Sroczynski, Michal Witt, Ewa Zietkiewicz
Short report: Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features (1 November, 2018)
Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden, Ellen Macnamara, Tadafumi Yokoyama, William A Gahl, Bernadette R Gochuico, Joel Moss