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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 NiidaRNA Biology|January 21, 2021
Target-capture full-length double-strand cDNA sequencing for alternative splicing analysisHiroki Ura, Sumihito Togi, Yo NiidaThe 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 NiidaAmerican 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 NiidaFrontiers 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 NiidaBMC Genomics|April 14, 2022
A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysisHiroki Ura, Sumihito Togi, Yo NiidaInternational Journal of Molecular Sciences|December 10, 2021
Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal PhenotypesYo Niida, Sumihito Togi, Hiroki UraScientific Reports|June 22, 2022
Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing eventsHiroki Ura, Sumihito Togi, Yo NiidaCureus|January 16, 2024
Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II CollagenopathiesYo Niida, Sumihito Togi, Hiroki UraCurrent Issues in Molecular Biology|August 27, 2021
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot StudySumihito Togi, Hiroki Ura, Yo NiidaPageof 7