Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex by Hiroki Ura, Hiroki Ura, Sumihito Togi, Sumihito Togi, Yo Niida, Yo Niida

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Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study by Sumihito Togi, Hiroki Ura, Yo Niida

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Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression by Hiroki Ura, Sumihito Togi, Yo Niida

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Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing by Hiroki Ura, Sumihito Togi, Yo Niida

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Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes by Yo Niida, Sumihito Togi, Hiroki Ura

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A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis by Hiroki Ura, Sumihito Togi, Yo Niida

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Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events by Hiroki Ura, Sumihito Togi, Yo Niida

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Higher Tumor Mutation Burden and Higher PD-L1 Activity Predicts the Efficacy of Immune Checkpoint Inhibitor Treatment in a Patient With Four Lung Cancers. A Case Report by Katsuo Usuda, Yo Niida, Yo Niida, Shun Iwai, Aika Funasaki, Atsushi Sekimura, Nozomu Motono, Sohsuke Yamada, Hidetaka Uramoto

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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... by Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex by Sumihito Togi, Hiroki Ura, Hisayo Hatanaka, Yo Niida

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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy by Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura

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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 po... by Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

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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 gene by Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

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Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation... by Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

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An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture by Shintaro Matsuba, Hiroki Ura, Hiroki Ura, Fumiji Saito, Chie Ogasawara, Shigetaka Shimodaira, Shigetaka Shimodaira, Yo Niida, Yo Niida, Nobuyuki Onai

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Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report by Katsuo Usuda, Katsuo Usuda, Yo Niida, Yo Niida, Masahito Ishikawa, Shun Iwai, Aika Yamagata, Yoshihito Iijima, Nozomu Motono, Sohsuke Yamada, Hidetaka Uramoto

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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 Gr... by Fumie Nomura, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

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Squamous cell carcinoma–like ungual fibroma as early diagnostic indicators of tuberous sclerosis complex in an elderly patient by Kae Yokoyama, Yo Niida, Takaharu Ikeda, Kazuo Takahashi, Tamihiro Kawakami

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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 Telangiect... by Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

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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... by Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

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