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Journal of Human Genetics

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Nature is the world's foremost international weekly scientific journal and is the flagship journal for Nature Research. Journal of Human Genetics publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomics.

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

Journal of Human Genetics

by Michal Levy, Eyal Elron, Mordechai Shohat, Shira Lifshitz, Sarit Kahana, Hagit Shani, Anat Grossman, Shirly Amar, Ginat Narkis, Lena Sagi-Dain, Lina Basel-Salmon, Idit Maya

2d ago

Journal of Human Genetics, Published online: 18 April 2024; doi:10.1038/s10038-024-01252-7 Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases ..read more

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Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Journal of Human Genetics

by Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa

1w ago

Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s10038-024-01244-7 Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7 ..read more

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Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Journal of Human Genetics

by Cameron S. Taylor, Daniel J. Lawson

1w ago

Journal of Human Genetics, Published online: 08 April 2024; doi:10.1038/s10038-024-01249-2 Heritability of complex traits in sub-populations experiencing bottlenecks and growth ..read more

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Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

Journal of Human Genetics

by Yohei Misumi, Taro Yamashita, Aki Kuratomi, Yoshitaka Murakami, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda

1w ago

Journal of Human Genetics, Published online: 08 April 2024; doi:10.1038/s10038-024-01250-9 Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant ..read more

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Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Journal of Human Genetics

by Lin Wang, Shuji Mizumoto, Ruixue Zhang, Yuqi Zhang, Yuan Liu, Wenjing Cheng, Xin Li, Min Dan, Chunyan Zhang, Xinru Gao, Juan Wang, Jiaqi Han, Lianying Jiao, Yating Wang, Qiujie Jin, Lihui Yang, Chenxing Li, Shuxian Li, Jinhui Zhu, Hai Jiang, Gen Nishimura, Takahiro Yamada, Shuhei Yamada, Na Cai, Rong Qiang, Long Guo

1w ago

Journal of Human Genetics, Published online: 02 April 2024; doi:10.1038/s10038-024-01248-3 Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review ..read more

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Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Journal of Human Genetics

by Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi

1w ago

Journal of Human Genetics, Published online: 29 March 2024; doi:10.1038/s10038-024-01245-6 Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population ..read more

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Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study

Journal of Human Genetics

by Yuying Wu, Weiling Chen, Yang Zhao, Minqi Gu, Yajuan Gao, Yamin Ke, Longkang Wang, Mengmeng Wang, Wenkai Zhang, Yaobing Chen, Weifeng Huo, Xueru Fu, Xi Li, Dongdong Zhang, Pei Qin, Fulan Hu, Yu Liu, Xizhuo Sun, Ming Zhang, Dongsheng Hu

1w ago

Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s10038-024-01243-8 Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study ..read more

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Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population

Journal of Human Genetics

by Masashi Idogawa, Tasuku Mariya, Yumi Tanaka, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai

1M ago

Journal of Human Genetics, Published online: 14 March 2024; doi:10.1038/s10038-024-01241-w Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population ..read more

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Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies

Journal of Human Genetics

by Marwa Kharrat, Chahnez Triki, Abir ben isaa, Wafa Bouchaala, Olfa Alila, Jihen Chouchen, Yosra Ghouliya, Fatma Kamoun, Abdelaziz Tlili, Faiza Fakhfakh

1M ago

Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s10038-024-01242-9 Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies ..read more

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A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Journal of Human Genetics

by Jessica Zucco, Federica Baldan, Lorenzo Allegri, Elisa Bregant, Nadia Passon, Alessandra Franzoni, Angela Valentina D’Elia, Flavio Faletra, Giuseppe Damante, Catia Mio

1M ago

Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01237-6 A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases ..read more

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