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Human Genome Variation|March 13, 2026
ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotypeHidetaka Yoshimatsu, Jun Kido, Takaaki Sawada, et al.
Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
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