Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts
Journal of Human Genetics
by Mio Shibata, Aika Terada, Takahisa Kawaguchi, Yoichiro Kamatani, Daigo Okada, Kazuhisa Nagashima, Koichiro Ohmura, Fumihiko Matsuda, Shuji Kawaguchi, Jun Sese, Ryo Yamada
18h ago
Journal of Human Genetics, Published online: 16 July 2024; doi:10.1038/s10038-024-01269-y Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts ..read more
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Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
Journal of Human Genetics
by Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, Yael Wilnai, Akira Kinoshita, Koh-ichiro Yoshiura, Hiroko Ninomiya, Takeshi Imamura, Long Guo, Jingyi Xue, Li Yan, Hirofumi Ohashi, Yann Pretemer, Shunsuke Kawai, Masaaki Shiina, Kazuhiro Ogata, Daniel H. Cohn, Naomichi Matsumoto, Gen Nishimura, Junya Toguchida, Noriko Miyake, Shiro Ikegawa
18h ago
Journal of Human Genetics, Published online: 16 July 2024; doi:10.1038/s10038-024-01274-1 Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II ..read more
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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
Journal of Human Genetics
by Boudour Khabou, Umar Bin Mohamad Sahari, Abir ben Issa, Wafa Bouchaala, Emmanuelle Szenker-Ravi, Alvin Yu Jin Ng, Carine Bonnard, Hamdi Mbarek, Islam Zeyaul, Faiza Fakhfakh, Fatma Kammoun, Bruno Reversade, Chahnez Charfi Triki
4d ago
Journal of Human Genetics, Published online: 11 July 2024; doi:10.1038/s10038-024-01273-2 Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein ..read more
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Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Journal of Human Genetics
by Pierre Bougnères, Sophie Le Fur, Yoichiro Kamatani, Thanh-Nga Mai, Marie-Pierre Belot, Kevin Perge, XiaoJian Shao, Mark Lathrop, Alain-Jacques Valleron
1w ago
Journal of Human Genetics, Published online: 10 July 2024; doi:10.1038/s10038-024-01272-3 Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes ..read more
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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Journal of Human Genetics
by Jim Jinn-Chyuan Sheu, Wei-Yong Lin, Ting-Yuan Liu, Cherry Yin-Yi Chang, Jack Cheng, Yau-Hong Li, Chih-Mei Chen, Chung-Chen Tseng, Wendy Yarou Ding, Ching Chung, Tritium Hwang, Ping-Ho Chen, Fuu-Jen Tsai
1w ago
Journal of Human Genetics, Published online: 09 July 2024; doi:10.1038/s10038-024-01270-5 Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study ..read more
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Investigating druggable kinases for targeted therapy in retinoblastoma
Journal of Human Genetics
by Kumar Jeyaprakash, Manojkumar Kumaran, Usha Kim, Radhakrishnan Santhi, Veerappan Muthukkaruppan, Bharanidharan Devarajan, Ayyasamy Vanniarajan
1w ago
Journal of Human Genetics, Published online: 01 July 2024; doi:10.1038/s10038-024-01267-0 Investigating druggable kinases for targeted therapy in retinoblastoma ..read more
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Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study
Journal of Human Genetics
by Yinan Wang, Yiming Jia, Qingyun Xu, Pinni Yang, Lulu Sun, Yi Liu, Xinyue Chang, Yu He, Mengyao Shi, Daoxia Guo, Yonghong Zhang, Zhengbao Zhu
1w ago
Journal of Human Genetics, Published online: 01 July 2024; doi:10.1038/s10038-024-01271-4 Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study ..read more
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A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis
Journal of Human Genetics
by Shota Yoneno, Kaoru Yamamoto, Kenshiro Tabata, Yuko Shimizu-Motohashi, Ayaka Tomita, Taiju Hayashi, Hiroyuki Maki, Noriko Sato, Ken Inoue, Hirotomo Saitsu, Hirofumi Komaki
1w ago
Journal of Human Genetics, Published online: 01 July 2024; doi:10.1038/s10038-024-01268-z A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis ..read more
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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Journal of Human Genetics
by Kaname Kojima, Shu Tadaka, Yasunobu Okamura, Kengo Kinoshita
3w ago
Journal of Human Genetics, Published online: 25 June 2024; doi:10.1038/s10038-024-01261-6 Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes ..read more
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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
Journal of Human Genetics
by Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E. Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata
3w ago
Journal of Human Genetics, Published online: 20 June 2024; doi:10.1038/s10038-024-01264-3 A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures ..read more
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