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Journal of Human Genetics
Published by Springer Science and Business Media LLC.
ISSN 1434-5161 / 1435-232X
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Aims & scope
Journal of Human Genetics publishes peer-reviewed research. Manuscripts pass a technical check and a scope check by the handling editor before going to independent reviewers.
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Recently published
Neuromuscular junction pathology in amyotrophic lateral sclerosis and emerging molecular therapeutic strategies
DOI 10.1038/s10038-026-01522-6 Kazuki Okoshi, Yoshitsugu Aoki · 2026
Genotype–phenotype variability in TRMT10A deficiency: divergent developmental outcomes associated with biallelic loss-of-function variants
DOI 10.1038/s10038-026-01519-1 Zeynep Esener, Dilan Genç-Akdağ, Canberk Toprak, Merve Saltık, Burak Esener, Büşra Yeninarcılar, İbrahim Tekedereli · 2026
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing
DOI 10.1038/s10038-026-01521-7 Xinrong Xu, Liangliang Qiu, Minghui Zeng, Qifang He, Xiaodan Lin, Yuhua Lin, Xinyue Chen, Fuze Zheng, Zeling Zheng, Shuhui Zhu, Yali Hong, Feng Lin, Ning Wang, Minting Lin, Zhiqiang Wang · 2026
MC1R variants in four Chinese children with red hair and hypopigmentation
DOI 10.1038/s10038-026-01520-8 Yingzi Zhang, Qiaorong Huang, Xiaojing Chen, Xuyun Hu, Aihua Wei · 2026
Uptake of cascade testing and the factors affecting its implementation among patients in Japan with Lynch syndrome
DOI 10.1038/s10038-026-01518-2 Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Nobuhiro Kado, Seiichiro Nishimura, Satomi Higashigawa, Eiko Ishihara, Rina Harada, Yasue Horiuchi · 2026
Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review
DOI 10.1038/s10038-026-01516-4 Fatemeh Ghermezcheshmeh, Nazila Malekian, Aida Ghasemi, Fatemeh Barshooi, Shahriar Nafissi, Afagh Alavi · 2026
Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia
DOI 10.1038/s10038-026-01517-3 Ting-Wei Kao, Jung-Yien Chien, Jo-Yu Chen, Feng-Jung Yang · 2026
Which R2 should be used to benchmark polygenic score performance against heritability?
DOI 10.1038/s10038-026-01515-5 Ciaran Michael Kelly · 2026
Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis
DOI 10.1038/s10038-026-01513-7 Zoe N. Zussa, Andrew N. Smith, Joke J.F.A van Vugt, Daniel S. O’Shaughnessy, Natalie Grima, Sandrine Chan Moi Fat, Ian P. Blair, Dominic B. Rowe, Roger Pamphlett, Garth A. Nicholson, Matthew C. Kiernan, Wouter van Rheenen, Jan Veldink, Kelly L. Williams, Lyndal Henden · 2026
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy
DOI 10.1038/s10038-026-01497-4 Mark Mencias, Meneka Kanagaratnam, Emma Matthews · 2026
Non-coding repeat expansions within NOTCH2NLC and RFC1 genes contribute to unsolved inherited peripheral neuropathies
DOI 10.1038/s10038-026-01509-3 Xin-Yun Zhang, Hao Yu, Gong-Lu Liu, Zhi-Ying Wu, Hai-Lin Dong · 2026
Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study
DOI 10.1038/s10038-026-01498-3 Yayoi Otsuka-Yamasaki, Yoichi Sutoh, Tsuyoshi Hachiya, Motoki Nakao, Shiori Minabe, Shohei Komaki, Hideki Ohmomo, Makoto Sasaki, Atsushi Shimizu · 2026
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