Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing, Hiroki Ura, Sumihito Togi, Yo Niida, International Journal of Molecular Sciences, 21:3530, May 2020
Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes, Niida Y, Togi S, Ura H, International Journal of Molecular Sciences, 22:13060, Dec. 2021
Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis, Ura H, Togi S, Niida Y, RNA Biology, 18:1600-1607, Jan. 2021
Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex, Togi S, Ura H, Niida Y, The Journal of Molecular Diagnostics, 23:424-446, Apr. 2021
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression, Ura H, Togi S, Niida Y, Biology, 10:256, Feb. 2021
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study, Togi S, Ura H, Niida Y, Current Issues in Molecular Biology, 43:782-801, Jul. 2021
The differential expression of perilipin-2 in hepatoblastoma and its association with prognosis, Sadafumi Azukisawa, Jianbo zheng, Xin Guo, Hiroki Ura, Yo Niida, Tohru Itoh, Sohsuke Yamada, Histology and Histopathology, 36:1169-1178, Dec. 2021
The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion, Terutsugu Koya, Yo Niida, Misa Togi, Kenichi Yoshida, Takuya Sakamoto, Hiroki Ura, Sumihito Togi, Tomohisa Kato Jr, Sohsuke Yamada, Haruo Sugiyama, Shigeo Koido, Shigetaka Shimodaira, International Journal of Molecular Sciences, 23:12177, Oct. 2022
A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis., 23:303, Apr. 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex., 23:11175, Sep. 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)., 61: , Mar. 2022
Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)., 63: , Jul. 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 gene., 64: , Aug. 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)., 63: , Jul. 2022
Certificate of acceptance for the manuscript (ijms-1913863) titled: Adaptive immunity against WT1 and SMAD4P130L of EpCAM+ cancer cells in malignant pleural effusion, 23:12177, Oct. 2022
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, Naoki Okada, Akihiro Shioya, Sumihito Togi, Hiroki Ura, Yo Niida, Cureus, 15:e50484, Dec. 2023
Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review, Hiroto Ono, Reimon Yamaguchi, Minako Arai, Sumihito Togi, Hiroki Ura, Yo Niida, Akira Shimizu, 50:1213-1215, 2023
An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture., Shintaro Matsuba, Hiroki Ura, Fumiji Saito, Chie Ogasawara, Shigetaka Shimodaira, Yo Niida, Nobuyuki Onai, Frontiers in Immunology, 14:1264609, Oct. 2023
Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells, Terutsugu Koya, Kenichi Yoshida, Misa Togi, Yo Niida, Sumihito Togi, Hiroki Ura, Shuichi Mizuta, Tomohisa Kato Jr, Sohsuke Yamada, Takeo Shibata, Yi-Chang Liu, Shyng-Shiou Yuan, Deng-Chyang Wu, Hirohito Kobayashi, Taiju Utsugisawa, Hitoshi Kanno, Shigetaka Shimodaira, Cancers, 15:3627, Jul. 2023
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy., Niida Y, Kobayashi A, Togi S, Ura H., Hum Genome Var., 10:29, Oct. 2023
Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex., Ura H, Togi S, Niida Y., Front Genet., 14:1256064, Sep. 2023
Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 70:103129, Aug. 2023
Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies., Niida Y, Togi S, Ura H., Cureus, 15:e50482, Dec. 2023
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 GroupC, Fumie Nomura, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida, 14:2079, Nov. 2023
Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 69:103075, Jun. 2023
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency, Niida Y, Fujita W, Togi S, Ura H., 11:28, Jul. 2024
Comparison of RNA-Sequencing Methods for Degraded RNA, Ura H, Niida Y., 25:6143, Jun. 2024
A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy, Yoshitaka Mitsui, Hitoshi Sato, Sumihito Togi, Hiroki Ura, Yo Niida, Brain and Development Case Reports, 2:100015, Jun. 2024
