Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
Journal of Human Genetics
by Xiao-Man Zhang, Kai-Li Xu, Jing-Hui Kong, Geng Dong, Shi-Jie Dong, Zhi-Xiao Yang, Shu-Jing Xu, Li Wang, Shu-Ying Luo, Yao-Dong Zhang, Chong-Chen Zhou, Wei-Yue Gu, Shi-Yue Mei
4d ago
Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s10038-024-01230-z Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review ..read more
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Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene
Journal of Human Genetics
by Emma Matthews, Ella F. Whittle, Faraan Khan, Meriel McEntagart, Christopher J. Carroll
4d ago
Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s10038-024-01226-9 Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene ..read more
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Journal of Human Genetics
by Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
1w ago
Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s10038-024-01228-7 Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals ..read more
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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: 13 February 2024; doi:10.1038/s10038-024-01223-y 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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CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion
Journal of Human Genetics
by Yuya Asanomi, Tetsuaki Kimura, Nobuyoshi Shimoda, Daichi Shigemizu, Shumpei Niida, Kouichi Ozaki
1w ago
Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s10038-024-01224-x CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion ..read more
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A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms
Journal of Human Genetics
by K. E. Ahlers-Dannen, J. Yang, M. M. Spicer, D. Fu, A. DeVore, R. A. Fisher
2w ago
Journal of Human Genetics, Published online: 09 February 2024; doi:10.1038/s10038-024-01220-1 A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms ..read more
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Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes
Journal of Human Genetics
by Jialin Sun, Mujia Li, Huaqin Sun, Ziyuan Lin, Bing Shi, Zhonglin Jia
2w ago
Journal of Human Genetics, Published online: 06 February 2024; doi:10.1038/s10038-024-01222-z Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes ..read more
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Journal of Human Genetics
by Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
3w ago
Journal of Human Genetics, Published online: 17 January 2024; doi:10.1038/s10038-024-01219-8 Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability ..read more
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A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
Journal of Human Genetics
by Bing Wen, Runqi Tang, Shuyao Tang, Yuan Sun, Jingwen Xu, Dandan Zhao, Tan Wang, Chuanzhu Yan
3w ago
Journal of Human Genetics, Published online: 17 January 2024; doi:10.1038/s10038-023-01216-3 A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene ..read more
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
Journal of Human Genetics
by Tatsuhiko Naito, Yukinori Okada
1M ago
Journal of Human Genetics, Published online: 15 January 2024; doi:10.1038/s10038-023-01213-6 Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology ..read more
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