Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

por Ura, Hiroki, Togi, Sumihito, Niida, Yo
Publicado 2023

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

por Ura, Hiroki, Togi, Sumihito, Niida, Yo
Publicado 2020

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

por Ura, Hiroki, Togi, Sumihito, Niida, Yo
Publicado 2021

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

por Niida, Yo, Togi, Sumihito, Ura, Hiroki
Publicado 2021

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

por Togi, Sumihito, Ura, Hiroki, Niida, Yo
Publicado 2021

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

por Ura, Hiroki, Togi, Sumihito, Niida, Yo
Publicado 2022

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

por Ura, Hiroki, Togi, Sumihito, Niida, Yo
Publicado 2022

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

por Niida, Yo, Kobayashi, Azusa, Togi, Sumihito, Ura, Hiroki
Publicado 2023

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family

por Itoh, Masatsune, Kittaka, Yuko, Niida, Yo, Saikawa, Yutaka
Publicado 2016

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

por Togi, Sumihito, Ura, Hiroki, Hatanaka, Hisayo, Niida, Yo
Publicado 2022

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...

por Nomura, Fumie, Shimizu, Akira, Togi, Sumihito, Ura, Hiroki, Niida, Yo
Publicado 2023

An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture

por Matsuba, Shintaro, Ura, Hiroki, Saito, Fumiji, Ogasawara, Chie, Shimodaira, Shigetaka, Niida, Yo, Onai, Nobuyuki
Publicado 2023

A novel PHEX mutation associated with vitamin D-resistant rickets

por Sako, Saori, Niida, Yo, Shima, Kosuke Robert, Takeshita, Yumie, Ishii, Kiyo-aki, Takamura, Toshinari
Publicado 2019

Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation

por Hayashi, Norifumi, Okuyama, Hiroshi, Matsui, Yuki, Yamaya, Hideki, Kinoshita, Eriko, Minato, Hiroshi, Niida, Yo, Yokoyama, Hitoshi
Publicado 2013

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

por Usuda, Katsuo, Niida, Yo, Iwai, Shun, Funasaki, Aika, Sekimura, Atsushi, Motono, Nozomu, Yamada, Sohsuke, Uramoto, Hidetaka
Publicado 2020

Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex

por Shoji, Tetsuaki, Niida, Yo, Osawa, Takahiro, Matsumoto, Ryuji, Sakurai, Kotaro, Suzuki, Masaru, Matsuno, Yoshihiro, Konno, Satoshi
Publicado 2021

Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report

por Usuda, Katsuo, Niida, Yo, Ishikawa, Masahito, Iwai, Shun, Yamagata, Aika, Iijima, Yoshihito, Motono, Nozomu, Yamada, Sohsuke, Uramoto, Hidetaka
Publicado 2022

Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron...

por Koshino, Akihiko, Takaeda, Chikako, Matsuno, Takahiro, Kitajima, Shinji, Iwata, Yasunori, Sakai, Norihiko, Nagahama, Kiyotaka, Niida, Yo, Saito, Takao, Yokoyama, Hitoshi, Wada, Takashi
Publicado 2022

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

por Shoji, Tetsuaki, Konno, Satoshi, Niida, Yo, Ogi, Takahiro, Suzuki, Masaru, Shimizu, Kaoruko, Hida, Yasuhiro, Kaga, Kichizo, Seyama, Kuniaki, Naka, Tomoaki, Matsuno, Yoshihiro, Nishimura, Masaharu
Publicado 2019

The Detection of Immunity against WT1 and SMAD4(P130L) of EpCAM(+) Cancer Cells in Malignant Pleural Effusion

por Koya, Terutsugu, Niida, Yo, Togi, Misa, Yoshida, Kenichi, Sakamoto, Takuya, Ura, Hiroki, Togi, Sumihito, Kato, Tomohisa, Yamada, Sohsuke, Sugiyama, Haruo, Koido, Shigeo, Shimodaira, Shigetaka
Publicado 2022