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Journal of Human Genetics|June 12, 2023
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegiasHiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, et al.Journal of Human Genetics|June 12, 2023
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosisNeha Singh, Kirtal Hansdah, Amal Bouzid, et al.Journal of Human Genetics|June 14, 2023
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of OkhotskMiroslava Derenko, Galina Denisova, Andrey Litvinov, et al.Journal of Human Genetics|September 21, 2023
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction modelQianqian Guo, Shuting Ji, Kazuma Takeuchi, et al.Journal of Human Genetics|June 26, 2023
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermiaJingpeng Zhao, Zhiyong Ji, Guiquan Meng, et al.Journal of Human Genetics|March 1, 2026
Two-decade trends in prenatal genetic testing in JapanAiko Sasaki, Takahiro Yamada, Haruhiko Sago, et al.Journal of Human Genetics|March 18, 2026
Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseasesSimona Incollu, Isadora Asunis, Stefania Satta, et al.Journal of Human Genetics|March 30, 2026
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohortAlejandro Silva, Carolina Jaramillo Oquendo, Jaime E Bernal, et al.Journal of Human Genetics|March 26, 2026
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complicationsGul Unsel-Bolat, Neslihan Tezcan, Dilan Genç-Akdağ, et al.Journal of Human Genetics|April 8, 2026
Associations of polygenic risk scores for type 2 diabetes with metabolic measures in Pacific Islanders from Guam and SaipanMaria J Ramirez-Luzuriaga, Saied Safabakhsh, Rasol Salehi, et al.Pageof 351