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Human Genome Variation|July 26, 2024
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiencyYo Niida, Wataru Fujita, Sumihito Togi, et al.
Stem Cell Research|February 22, 2025
Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B geneHiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
Stem Cell Research|July 22, 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
The Journal of Dermatology|June 17, 2015
Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesionsNaohito Hatta, Akiko Takata, Shin Ishizawa, et al.
Cytogenetic and Genome Research|January 4, 2018
Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance ModelYo Niida, Mika Inoue, Mamoru Ozaki, et al.
Stem Cell Research|March 16, 2024
Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 geneHiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
International Journal of Molecular Sciences|April 17, 2025
Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)Hiroki Ura, Hisayo Hatanaka, Sumihito Togi, et al.
Molecular Genetics and Metabolism|October 2, 2012
Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosisYo Niida, Mondo Kuroda, Yusuke Mitani, et al.
Pediatric Neurosurgery|June 9, 2005
Cyanotic breath-holding spell: a life-threatening complication after radical resection of a cervicomedullary gangliogliomaHironori Fujisawa, Yuya Yoshida, Yo Niida, et al.
Cureus|January 15, 2024
A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up PoliciesNaoki Okada, Akihiro Shioya, Sumihito Togi, et al.
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