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Journal of Human Genetics|January 9, 2019
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activationJing Chen, Na Ma, Xiaomeng Zhao, et al.Journal of Human Genetics|January 12, 2019
Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATPNaoyuki Kamatani, Akifumi Kushiyama, Licht Toyo-Oka, et al.Journal of Human Genetics|December 6, 2018
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humansAlex Marcel Moreira Dias, Karina Lezirovitz, Fernanda Stávale Nicastro, et al.Journal of Human Genetics|November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsAdila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.Journal of Human Genetics|December 8, 2017
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset diseaseRyota Hikiami, Hirofumi Yamashita, Natsuko Koita, et al.Journal of Human Genetics|December 8, 2017
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc sizePik Fang Kho, Rodney A Lea, Miles C Benton, et al.Journal of Human Genetics|December 24, 2017
Decisional conflict and regret: shared decision-making about pregnancy affected by β-thalassemia major in Southeast of IranZahra Moudi, Zenab Phanodi, Hossein Ansari, et al.Journal of Human Genetics|December 28, 2017
Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencingMakiko Horai, Hiroyuki Mishima, Chisa Hayashida, et al.Journal of Human Genetics|February 8, 2019
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasiaLidia Ruiz-Llorente, Jamie McDonald, Whitney Wooderchak-Donahue, et al.Journal of Human Genetics|December 25, 2019
Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathyChrysoula Dimopoulou, Jens D Lundgren, Jon Sundal, et al.Pageof 352