Journal of Human Genetics

Journal Information
ISSN / EISSN : 0021-5074 / 0916-8478
Published by: Springer Nature (10.1038)
Total articles ≅ 4,418
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Latest articles in this journal

Kojima-Ishii Kanako, , Kei Murayama, Koji Nagatani, Satoshi Murata, Akira Otake, , , Tomoko Uehara, Kenjiro Kosaki, et al.
Published: 15 October 2021
Journal of Human Genetics pp 1-6; https://doi.org/10.1038/s10038-021-00984-0

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, Puneeth H. Somashekar, Parneet Kaur, Samarth Kulshrestha, Vedam L. Ramprasad, Sakthivel Murugan, Seema Sud,
Published: 8 October 2021
Journal of Human Genetics pp 1-4; https://doi.org/10.1038/s10038-021-00981-3

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Shao-Qing Wen, Pan-Xin Du, Chang Sun, Wei Cui, Yi-Ran Xu, Hai-Liang Meng, Mei-Sen Shi, Bo-Feng Zhu, Hui Li
Published: 17 September 2021
Journal of Human Genetics pp 1-6; https://doi.org/10.1038/s10038-021-00979-x

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Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, Lip Hen Moey, Wee Teik Keng, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, et al.
Published: 17 September 2021
Journal of Human Genetics pp 1-5; https://doi.org/10.1038/s10038-021-00978-y

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Fei Xie, Shuqi Chen, Peng Liu, Xinhui Chen,
Published: 16 September 2021
Journal of Human Genetics pp 1-4; https://doi.org/10.1038/s10038-021-00975-1

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Correction
Khurram Liaqat, Shabir Hussain, Muhammad Bilal, , Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, , Wasim Ahmad, et al.
Published: 16 September 2021
Journal of Human Genetics pp 1-1; https://doi.org/10.1038/s10038-021-00951-9

Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Severine Drunat, Arwa Babai, Esraa Eltaraifee, Iman Elbadi, Rayan Abubaker, et al.
Published: 10 September 2021
Journal of Human Genetics pp 1-6; https://doi.org/10.1038/s10038-021-00945-7

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Simon G. Williams, Dominic J. F. Byrne,
Published: 7 September 2021
Journal of Human Genetics pp 1-3; https://doi.org/10.1038/s10038-021-00976-0

Abstract:
Congenital heart disease (CHD) has a complex and largely uncharacterised genetic etiology. Using 200,000 UK Biobank (UKB) exomes, we assess the burden of ultra-rare, potentially pathogenic variants in the largest case/control cohort of predominantly mild CHD to date. We find an association with GATA6, a member of the GATA family of transcription factors that play an important role during heart development and has been linked with several CHD phenotypes previously. Several identified GATA6 variants are previously unreported and their roles in conferring risk to CHD warrants further study. We demonstrate that despite limitations regarding detailed familial phenotype information in large-scale biobank projects, through careful consideration of case and control cohorts it is possible to derive important associations.
Kishin Koh, Mai Tsuchiya, , Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, , Yoshihisa Takiyama, et al.
Published: 6 September 2021
Journal of Human Genetics pp 1-3; https://doi.org/10.1038/s10038-021-00977-z

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