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Biology|April 3, 2021
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic ExpressionHiroki Ura, Sumihito Togi, Yo Niida
RNA Biology|January 21, 2021
Target-capture full-length double-strand cDNA sequencing for alternative splicing analysisHiroki Ura, Sumihito Togi, Yo Niida
The Journal of Molecular Diagnostics : JMD|January 24, 2021
Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis ComplexSumihito Togi, Hiroki Ura, Yo Niida
American Journal of Medical Genetics. Part A|April 24, 2024
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndromeSumihito Togi, Hiroki Ura, Yo Niida
Frontiers in Genetics|October 13, 2023
Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complexHiroki Ura, Sumihito Togi, Yo Niida
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.
Human Genome Variation|November 21, 2023
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomyYo Niida, Azusa Kobayashi, Sumihito Togi, 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.
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