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Journal of Human Genetics|May 9, 2025
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patientsSara Alvaro, Daniel Castillo, Jordi Genovés, et al.Journal of Human Genetics|May 7, 2025
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability testsMizuki Yamaguchi, Shintaro Akabane, Hiroaki Niitsu, et al.Journal of Human Genetics|November 17, 2025
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescentsJanaki M Nair, Khushdeep Bandesh, Anil K Giri, et al.Journal of Human Genetics|September 24, 2025
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencingHironao Shirai, Keiko Shimojima Yamamoto, Hirokazu Arai, et al.Journal of Human Genetics|September 8, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyondFuyuki Miya, Daisuke Nakato, Hisato Suzuki, et al.Journal of Human Genetics|August 17, 2025
Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophyS Rehan Ahmad, Md Zeyaullah, Yousef Zahrani, et al.Journal of Human Genetics|August 20, 2025
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?Pannaga Prasad G, Aleksandra Makarova, Kandasamy Kathirvel, et al.Journal of Human Genetics|September 16, 2025
Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophyMitsuru Sasaki-Honda, Takumi Kishimoto, Hidetoshi SakuraiJournal of Human Genetics|September 16, 2025
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern SiberiaVera G Pshennikova, Fedor M Teryutin, Tuyara V Borisova, et al.Journal of Human Genetics|September 12, 2025
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunctionTaiga Aoki, Ayano Inui, Yoshiyasu Ogata, et al.Pageof 351