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Journal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
Nucleic Acids Research|November 6, 2010
SAHG, a comprehensive database of predicted structures of all human proteinsChie Motono, Junichi Nakata, Ryotaro Koike, et al.
Plos Genetics|February 27, 2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in miceYoichi Wada, Atsuo Kikuchi, Akimune Kaga, et al.
Brain & Development|July 13, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1AYukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, et al.
Nucleic Acids Research|November 12, 2020
jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese populationShu Tadaka, Eiji Hishinuma, Shohei Komaki, et al.
International Immunology|January 19, 2020
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndromeSou Niitsuma, Hiroki Kudo, Atsuo Kikuchi, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms|April 28, 2018
Omics research project on prospective cohort studies from the Tohoku Medical Megabank ProjectSeizo Koshiba, Ikuko Motoike, Daisuke Saigusa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2018
Biallelic GALM pathogenic variants cause a novel type of galactosemiaYoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, et al.
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