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International Journal of Molecular Sciences|May 21, 2020
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel TestingHiroki Ura, Sumihito Togi, Yo Niida
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.
International Journal of Molecular Sciences|October 14, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis ComplexSumihito Togi, Hiroki Ura, Hisayo Hatanaka, et al.
Stem Cell Research|September 28, 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 geneHiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
Stem Cell Research|August 9, 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 geneHiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
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|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.
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.
Stem Cell Research|February 22, 2025
Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndromeHiroki Ura, Sumihito Togi, Hisayo Hatanaka, et al.
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