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Journal of Human Genetics|November 4, 2025
Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disordersByambajav Tserenlkham, Koichiro Takayama, Dimitar P Zankov, et al.Journal of Human Genetics|November 4, 2025
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2Suzan Süncak, Beyhan Tüysüz, Ravza Nur Yıldırım, et al.Journal of Human Genetics|July 8, 2025
VarMeter: a prediction method for the impact of glycogene variantsShiho Ohno, Noriyoshi Manabe, Tadashi Kaname, et al.Journal of Human Genetics|February 2, 2026
Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdownRie Chida, Genri Kawahara, Mami Nakayashiki, et al.Journal of Human Genetics|January 13, 2026
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalingsMaiko Ikeda, Chikahiko Numakura, Gen Nishimura, et al.Journal of Human Genetics|December 16, 2025
Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in JapaneseRisa Mitsumori, Kouichi Ozaki, Yuko Saito, et al.Journal of Human Genetics|December 15, 2025
Galactose mutarotase deficiency as the galactosemia type IVYoichi Wada, Yu Aihara, Yasuko Mikami-Saito, et al.Journal of Human Genetics|April 18, 2025
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein levelBoudour Khabou, Houcemeddine Othman, Manel Guirat, et al.Journal of Human Genetics|May 23, 2025
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humansShuai Xu, Chenwang Zhang, Chencheng Yao, et al.Pageof 351