Urea cycle disorders—update Shirou Matsumoto, Johannes Häberle, Jun Kido, Hiroshi Mitsubuchi, Fumio Endo et al.  Journal of Human Genetics 2019 64 :833 - 847; May 20, 2019; 10.1038/s10038-019-0614-4 Abstract | Full Text
Overview of symptoms and treatment for lysinuric protein intolerance Atsuko Noguchi & Tsutomu Takahashi  Journal of Human Genetics 2019 64 :849 - 858; June 18, 2019; 10.1038/s10038-019-0620-6 Abstract | Full Text
ARTICLE
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Hasnaa M. Elbendary, Sherif F. Abdel-Ghafar, Karima Rafaat et al.  Journal of Human Genetics 2019 64 :859 - 865; July 05, 2019; 10.1038/s10038-019-0637-x Abstract | Full Text
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome Antonia Howaldt, Sheela Nampoothiri, Dhanya Yesodharan, Suhas Udayakumaran, Pramod Subash et al.  Journal of Human Genetics 2019 64 :867 - 873; July 08, 2019; 10.1038/s10038-019-0638-9 Abstract | Full Text
A genetic-phenotypic classification for syndromic micrognathia Qiming Chen, Yan Zhao, Yifeng Qian, Chenpei Lu, Guofang Shen et al.  Journal of Human Genetics 2019 64 :875 - 883; July 04, 2019; 10.1038/s10038-019-0630-4 Abstract | Full Text
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, Debora Romeo Bertola, Rachel Sayuri Honjo et al.  Journal of Human Genetics 2019 64 :885 - 890; July 04, 2019; 10.1038/s10038-019-0626-0 Abstract | Full Text
High-risk screening for Anderson–Fabry disease in patients with cardiac, renal, or neurological manifestations Naoki Nakagawa, Jun Sawada, Naka Sakamoto, Toshiharu Takeuchi, Fumihiko Takahashi et al.  Journal of Human Genetics 2019 64 :891 - 898; June 19, 2019; 10.1038/s10038-019-0633-1 Abstract | Full Text
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient Daijing Nie, Panxiang Cao, Fang Wang, Jing Zhang, Mingyue Liu et al.  Journal of Human Genetics 2019 64 :899 - 909; June 26, 2019; 10.1038/s10038-019-0629-x Abstract | Full Text
Effect of filaggrin loss-of-function mutations on atopic dermatitis in young age: a longitudinal birth cohort study Ryota Koseki, Wataru Morii, Emiko Noguchi, Moena Ishikawa, Limin Yang et al.  Journal of Human Genetics 2019 64 :911 - 917; June 28, 2019; 10.1038/s10038-019-0628-y Abstract | Full Text
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy ZhenXian Hu, Ying Zhu, Xiao Liu, Wei Zhang, Jing Liu et al.  Journal of Human Genetics 2019 64 :919 - 926; July 04, 2019; 10.1038/s10038-019-0627-z Abstract | Full Text
Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy Dianchun Shi, Zhong Zhong, Ricong Xu, Bin Li, Jianbo Li et al.  Journal of Human Genetics 2019 64 :927 - 935; June 21, 2019; 10.1038/s10038-019-0632-2 Abstract | Full Text
The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome Feifei Sun, Ken Higashimoto, Atsuko Awaji, Kenji Ohishi, Naoto Nishizaki et al.  Journal of Human Genetics 2019 64 :937 - 943; June 24, 2019; 10.1038/s10038-019-0634-0 Abstract | Full Text
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan Iku Taguchi, Takahiro Yamada, Rina Akaishi, Issei Imoto, Kenji Kurosawa et al.  Journal of Human Genetics 2019 64 :945 - 954; July 05, 2019; 10.1038/s10038-019-0635-z Abstract | Full Text
BRIEF COMMUNICATION
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant Yuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, José Ceroni, Patricia Picciarelli Lima et al.  Journal of Human Genetics 2019 64 :955 - 960; June 18, 2019; 10.1038/s10038-019-0631-3 Abstract | Full Text
Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients Ah Jin Lee, Soo Hyun Nam, Jin-Mo Park, Sumaira Kanwal, Yu Jin Choi et al.  Journal of Human Genetics 2019 64 :961 - 965; June 21, 2019; 10.1038/s10038-019-0636-y Abstract | Full Text