JOURNAL OF HUMAN GENETICS

Publisher:: Springer Nature
ISSN:: 1434-5161
Category:: GENETICS & HEREDITY
Impact factor:: 2.6

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6 parsed articles

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Latest articles

Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort

2026-03-30

Alejandro Silva, Carolina Jaramillo Oquendo, Jaime E. Bernal, Julio Cesar Martinez, Andrew Collins, Ignacio Briceño, Escilda Benavides, Zulieth López Arrieta, Sarah Ennis

Journal of Human Genetics, Published online: 30 March 2026; doi:10.1038/s10038-026-01466-x Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort

Clinical and imaging characteristics of NOTCH3-negative CADASIL-suspected patients with NOTCH2NLC GGC repeat expansions

2026-03-26

Hiraku Matsuura, Daiki Fukunaga, Ikuko Mizuta, Chisato Tamai, Rei Yasuda, Mao Mukai, Akiko Watanabe-Hosomi, Takashi Koizumi, Tomokatsu Yoshida, Tomoyuki Ohara, Takashi Kasai, Jun Sone, Toshiki Mizuno

Journal of Human Genetics, Published online: 26 March 2026; doi:10.1038/s10038-026-01470-1 Clinical and imaging characteristics of NOTCH3 -negative CADASIL-suspected patients with NOTCH2NLC GGC repeat expansions

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells

2026-03-24

Toru Takagi, Sachiko Miyamoto, Kenji Shimizu, Yasuhiko Tanaka, Tomoko Matsubayashi, Yohei Masunaga, Hirotomo Saitsu

Journal of Human Genetics, Published online: 24 March 2026; doi:10.1038/s10038-026-01472-z Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells

Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases

2026-03-17

Simona Incollu, Isadora Asunis, Stefania Satta, Salvatore Savasta, Georgios Loudianos

Journal of Human Genetics, Published online: 17 March 2026; doi:10.1038/s10038-026-01469-8 Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases

Two-decade trends in prenatal genetic testing in Japan

2026-03-02

Aiko Sasaki, Takahiro Yamada, Haruhiko Sago, Nahoko Shirato, Akihiko Sekizawa, Kenichiro Hata, Hideaki Masuzaki, Yuko Masuzawa, Toshiyuki Yamamoto, Hiroshi Yoshihashi, Shiro Tanaka, Yuka Shibata, Kanako Koike Fukushima, Kenjiro Kosaki, Shigehito Yamada, Masakazu Nishigaki, Ikuo Konishi, Hidehiko Miyake

Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s10038-026-01465-y Two-decade trends in prenatal genetic testing in Japan

Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy

2026-03-02

Mahsa Mohammadi, Mahdieh Rahimoghli, Aida Ghasemi, Ali Asghar Okhovat, Afagh Alavi

Journal of Human Genetics, Published online: 02 March 2026; doi:10.1038/s10038-026-01467-w Expanding the phenotypic spectrum of LAMA2 -related disorders: Axonal neuropathy in the absence of muscular dystrophy

JOURNAL OF HUMAN GENETICS

Latest articles

Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort

Clinical and imaging characteristics of <i>NOTCH3</i>-negative CADASIL-suspected patients with <i>NOTCH2NLC</i> GGC repeat expansions

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells

Allelic variation in the <i>ATP7B</i> gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases

Two-decade trends in prenatal genetic testing in Japan

Expanding the phenotypic spectrum of <i>LAMA2</i>-related disorders: Axonal neuropathy in the absence of muscular dystrophy