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ArticlesPeer ReviewedFull Text
A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis
Author / Creator:Ura, Hiroki ; Togi, Sumihito ; Niida, Yo
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2022-04, Vol.23 (1), p.303-303, Article 303
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Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events
Author / Creator:Ura, Hiroki ; Togi, Sumihito ; Niida, Yo
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-06, Vol.12 (1), p.10599-10599, Article 10599
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Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes
Author / Creator:Niida, Yo ; Togi, Sumihito ; Ura, Hiroki
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-12, Vol.22 (23), p.13060
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Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing
Author / Creator:Ura, Hiroki ; Togi, Sumihito ; Niida, Yo
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-05, Vol.21 (10), p.3530
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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study
Author / Creator:Togi, Sumihito ; Ura, Hiroki ; Niida, Yo
Publisher:MDPI
Journal title:Current issues in molecular biology, 2021-07, Vol.43 (2), p.782-801
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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency
Author / Creator:Niida, Yo ; Fujita, Wataru ; Togi, Sumihito ; Ura, Hiroki
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-07, Vol.11 (1), p.28-4, Article 28
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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
Author / Creator:Niida, Yo ; Kobayashi, Azusa ; Togi, Sumihito ; Ura, Hiroki
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2023-11, Vol.10 (1), p.29-29, Article 29
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STAP-2 facilitates insulin signaling through binding to CAP/c-Cbl and regulates adipocyte differentiation
Author / Creator:Sekine, Yuichi ; Kikkawa, Kazuna ; Honda, Sachie ; Sasaki, Yuto ; Kawahara, Shoya ; Mizushima, Akihiro ; Togi, Sumihito ; Fujimuro, Masahiro ; Oritani, Kenji ; Matsuda, Tadashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.5799-5799, Article 5799
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Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies
Author / Creator:Niida, Yo ; Togi, Sumihito ; Ura, Hiroki
Publisher:United States: Springer Nature B.V
Journal title:Curēus (Palo Alto, CA), 2023-12, Vol.15 (12), p.e50482-e50482
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Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression
Author / Creator:Ura, Hiroki ; Togi, Sumihito ; Niida, Yo
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2021-03, Vol.10 (4), p.256
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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 Policies
Author / Creator:Okada, Naoki ; Shioya, Akihiro ; Togi, Sumihito ; Ura, Hiroki ; Niida, Yo
Publisher:United States: Springer Nature B.V
Journal title:Cureus, 2023-12, Vol.15 (12), p.e50484-e50484
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Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab
Author / Creator:Uchiyama, Eri ; Takeda, Kiminobu ; Ono, Hiroto ; Shimizu, Akira ; Togi, Sumihito ; Ura, Hiroki ; Niida, Yo
Publisher:Frontiers Media S.A
Journal title:Journal of cutaneous immunology and allergy, 2025-01, Vol.8
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The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion
Author / Creator:Koya, Terutsugu ; Niida, Yo ; Togi, Misa ; Yoshida, Kenichi ; Sakamoto, Takuya ; Ura, Hiroki ; Togi, Sumihito ; Kato, Tomohisa ; Yamada, Sohsuke ; Sugiyama, Haruo ; Koido, Shigeo ; Shimodaira, Shigetaka
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (20), p.12177
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Herbal extracts that induce type I interferons through Toll-like receptor 4 signaling
Author / Creator:Nakasuji-Togi, Misa ; Togi, Sumihito ; Saeki, Keita ; Kojima, Yasuhiko ; Ozato, Keiko
Publisher:Sweden: Open Academia
Journal title:Food & nutrition research, 2022, Vol.66, p.1-10
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Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells
Author / Creator:Koya, Terutsugu ; Yoshida, Kenichi ; Togi, Misa ; Niida, Yo ; Togi, Sumihito ; Ura, Hiroki ; Mizuta, Shuichi ; Kato, Tomohisa ; Yamada, Sohsuke ; Shibata, Takeo ; Liu, Yi-Chang ; Yuan, Shyng-Shiou ; Wu, Deng-Chyang ; Kobayashi, Hirohito ; Utsugisawa, Taiju ; Kanno, Hitoshi ; Shimodaira, Shigetaka
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2023-07, Vol.15 (14), p.3627
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Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)
Author / Creator:Ura, Hiroki ; Hatanaka, Hisayo ; Togi, Sumihito ; Niida, Yo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-03, Vol.26 (7), p.3220
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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Author / Creator:Togi, Sumihito ; Ura, Hiroki ; Hatanaka, Hisayo ; Niida, Yo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-09, Vol.23 (19), p.11175
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Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer
Author / Creator:Nishiki, Hisashi ; Ura, Hiroki ; Togi, Sumihito ; Hatanaka, Hisayo ; Fujita, Hideto ; Takamura, Hiroyuki ; Niida, Yo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-02, Vol.26 (4), p.1642
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SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C
Author / Creator:Nomura, Fumie ; Shimizu, Akira ; Togi, Sumihito ; Ura, Hiroki ; Niida, Yo
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-11, Vol.14 (11), p.2079
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Biallelic mutations in IRF8 impair human NK cell maturation and function
Author / Creator:Mace, Emily M. ; Bigley, Venetia ; Gunesch, Justin T. ; Chinn, Ivan K. ; Angelo, Laura S. ; Care, Matthew A. ; Maisuria, Sheetal ; Keller, Michael D. ; Togi, Sumihito ; Watkin, Levi B. ; LaRosa, David F. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Stray-Pedersen, Asbjørg ; Coban Akdemir, Zeynep ; Smith, Jansen B. ; Hernández-Sanabria, Mayra ; Le, Duy T. ; Hogg, Graham D. ; Cao, Tram N. ; Freud, Aharon G. ; Szymanski, Eva P. ; Savic, Sinisa ; Collin, Matthew ; Cant, Andrew J. ; Gibbs, Richard A. ; Holland, Steven M. ; Caligiuri, Michael A. ; Ozato, Keiko ; Paust, Silke ; Doody, Gina M. ; Lupski, James R. ; Orange, Jordan S.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2017-01, Vol.127 (1), p.306-320
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Showing 1 to 20 of 20 results

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A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

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Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events

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Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes

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Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing

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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

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STAP-2 facilitates insulin signaling through binding to CAP/c-Cbl and regulates adipocyte differentiation

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Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies

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Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

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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 Policies

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Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

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The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion

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Herbal extracts that induce type I interferons through Toll-like receptor 4 signaling

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Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells

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Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)

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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

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Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer

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SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

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Biallelic mutations in IRF8 impair human NK cell maturation and function

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