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Journal of Human Genetics|August 31, 2021
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalisShanyu Pi, Jiaoe Gong, Wenbiao Xiao, et al.Journal of Human Genetics|March 2, 2023
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotypeMarija Kojic, Nour E H Abbassi, Ting-Yu Lin, et al.Journal of Human Genetics|March 2, 2023
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysisYifei Xu, Guofei Feng, Taichi Yano, et al.Journal of Human Genetics|February 7, 2023
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseasesXiaole Wang, Baiyang You, Fei Yin, et al.Journal of Human Genetics|February 9, 2023
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermiaYuxiang Zhang, Na Li, Zhiyong Ji, et al.Journal of Human Genetics|February 16, 2026
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese familiesXingyu Xia, Milla Laarne, Tonglin Pan, et al.Journal of Human Genetics|February 26, 2025
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrierGen Furukawa, Rie Kawamura, Hidehito Inagaki, et al.Journal of Human Genetics|February 12, 2025
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestationsAnjali Shah, Santosh Khuba, Selvaa Kumar C, et al.Journal of Human Genetics|January 28, 2025
Pathogenic variants in SHROOM3 associated with hemifacial microsomiaQin Li, Bing-Hua Zhang, Qi Chen, et al.Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.Pageof 351