Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome Hiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, Veronica Eun Hue Kim, Isabel Furquim et al. Journal of Human Genetics 2019 64 :967 - 978; July 23, 2019; 10.1038/s10038-019-0643-z Abstract | Full Text
A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord Chengyuan Song, Linliu Peng, Shengjun Wang & Yiming Liu Journal of Human Genetics 2019 64 :979 - 983; August 06, 2019; 10.1038/s10038-019-0648-7 Abstract | Full Text
Identification of novel variants in a large cohort of children with Tay–Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Neerja Gupta et al. Journal of Human Genetics 2019 64 :985 - 994; August 06, 2019; 10.1038/s10038-019-0647-8 Abstract | Full Text
Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA Kyung-Hee Kim, Kawther Abu Elneel, Jun Wan Shin, Jae Whan Keum, David Seong et al. Journal of Human Genetics 2019 64 :995 - 1004; July 11, 2019; 10.1038/s10038-019-0639-8 Abstract | Full Text
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome Yoichiro Oda, Yuri Uchiyama, Ai Motomura, Atsushi Fujita, Yoshiteru Azuma et al. Journal of Human Genetics 2019 64 :1005 - 1014; July 16, 2019; 10.1038/s10038-019-0641-1 Abstract | Full Text
Computational identification and analysis of early diagnostic biomarkers for kidney cancer Tang Tang, Xiaoyan Du, Xiaoyi Zhang, Wenling Niu, Chunhua Li et al. Journal of Human Genetics 2019 64 :1015 - 1022; July 26, 2019; 10.1038/s10038-019-0640-2 Abstract | Full Text
Identification of a missense variant in CLDN2 in obstructive azoospermia Masomeh Askari, Razieh Karamzadeh, Naser Ansari-Pour, Mohammad Hossein Karimi-Jafari, Navid Almadani et al. Journal of Human Genetics 2019 64 :1023 - 1032; July 18, 2019; 10.1038/s10038-019-0642-0 Abstract | Full Text
Association between common telomere length genetic variants and telomere length in an African population and impacts of HIV and TB Stephanie Wang, Emily Chang, Patrick Byanyima, Peter Huang, Ingvar Sanyu et al. Journal of Human Genetics 2019 64 :1033 - 1040; August 06, 2019; 10.1038/s10038-019-0646-9 Abstract | Full Text
BRIEF COMMUNICATION
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation Daisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, Hirotomo Saitsu, Maki Fukami et al. Journal of Human Genetics 2019 64 :1041 - 1044; August 06, 2019; 10.1038/s10038-019-0650-0 Abstract | Full Text
CORRESPONDENCE
China National DNA Martyry: a beacon of hope for the martyrs’ coming home Wen Shao-Qing, Bao Ruo-Yu, Zhou Bo-Yan, Du Pan-Xin, Sun Chang et al. Journal of Human Genetics 2019 64 :1045 - 1047; August 06, 2019; 10.1038/s10038-019-0649-6 Abstract | Full Text
CORRECTION
Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease Kyaw Thiha, Yoichi Mashimo, Hiroyuki Suzuki, Hiromichi Hamada, Akira Hata et al. Journal of Human Genetics 2019 64 :1049 - 1049; July 31, 2019; 10.1038/s10038-019-0645-x Abstract | Full Text
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, Hülya-Sevcan Daimagüler, Ezgi Karaca et al. Journal of Human Genetics 2019 64 :1051 - 1054; August 06, 2019; 10.1038/s10038-019-0644-y Abstract | Full Text