NIIDA Yo

Researcher Profile & Settings

Research

Overview of research:
The study of genetic disease revealed directly how human gene mutation or genomic structural anomaly affects human body functions, and not only provides diagnosis and therapy to rare disease, but reconstructs human being through functional genome network. In division of genomic medicine, we provide chromosomal analysis (G-banding, FISH and DNA microarray) and many gene tests (more than 100 genes and 70 diseases) for hereditary diseases. Also, we are developing simple and effective gene analysis methods and studying for how gene mutation affects to cell function and human body.

Education

• Kanazawa University Graduate School

Degree

• Ph.D in Medicine

Association Memberships

• 2014- 2015Japan Pediatric Society
• 2009- The Japanese society of child neurology
• 2002- The Japanese society of human genetics

Research Activities

Research Areas

• Medicine,dentistry, and pharmacy / Genome science / Pathology of the human genome system
  Research Project: Analysis of the human genome system from the viewpoint of birth defects
• Medicine,dentistry, and pharmacy / Genome science
  Research Project: Clinical genomics

Published Papers

• Novel PKD2 Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report., Miura S, Niida Y, Hashizume C, Fujii A, Takagaki Y, Kusama K, Akazawa S, Minami T, Mukai T, Furuichi K, Tsuchishima M, Ueda N, Takamura H, Koya D, Ito T., 9:25, Mar. 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
• 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., 12:　, Jun. 2020
• 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
• TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma., 38:77, Jan. 2022
• Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis., 37:1125, Mar. 2022
• Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits., 12:96, Jun. 2022
• 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
• Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report., Usuda K, Niida Y, Ishikawa M, Iwai S, Yamagata A, Iijima Y, Motono N, Yamada S, Uramoto H., Frontiers in onclogy, 12:858094, Mar. 2022
• Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist, Keita Yamazaki , Katsuhito Miyazawa , Yo Nida , Kengo Furuichi , Hitoshi Yokoyama, Journal of nephrology, 34:2147-2149, Dec. 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
• 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
  DOI:https://doi.org/10.3390/ijms222313060
• 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
  DOI:https://doi.org/10.1016/j.jmoldx.2020.12.009
• 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
  DOI:https://doi.org/10.3390/biology10040256
• 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
  DOI:https://doi.org/10.3390/cimb43020057
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes., (Shoko Asano), Saori Sako, Yuka Funasaki, Yumie Takeshita, Yo Niida, Toshinari Takamura, Endocrine Journal, 68:1, Sep. 2021
• Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex., (Shoji T), Niida Y, Osawa T, Matsumoto R, Sakurai K, Suzuki M, Matsuno Y, Konno S., Respir Med Case Rep., 34:101526, Oct. 2021
• Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report., (Ando T), Nakajima T, Fukuda R, Nomura K, Niida Y, Sakumura M, Motoo I, Mihara H, Nanjo S, Kajiura S, Fujinami H, Hojo S, Fujii T, Yasuda I, BMC Gastroenterol., 21:326, Aug. 2021
• Remarkable effect of Atezolizumab in advanced non-small cell lung cancer with PD-L1 negative but genome instability is increased: case report, Nozomu Motono, Yo Niida, Sohsuke Yamada, Hidetaka Uramoto, Clinical Oncology Case Reports, 3:2-4, May 2020
• 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, Usuda, Katsuo;Niida, Yo;Iwai, Shun;Funasaki, Aika;Sekimura, Atsushi;Motono, Nozomu;Yamada, Sohsuke;Uramoto, Hidetaka, FRONTIERS IN ONCOLOGY, 10:689, Jun. 2020
  DOI:10.3389/fonc.2020.00689
• Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia, (Ishijima Yuka), Iizuka Takashi, Kagami Kyosuke, Masumoto Sakiko, Nakade Kyohei, Mitani Yusuke, Niida Yo, Watanabe Atsushi, Yamazaki Rena, Ono Masanori, Fujiwara Hiroshi, Journal of Obstetrics and Gynaecology, 40:132-134, Jan. 2020
  DOI:10.1080/01443615.2019.1606177
• Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants, (Hata Yukiko), Oku Yuko, Taneichi Hiromichi, Tanaka Tomomi, Igarashi Noboru, Niida Yo, Nishida Naoki, Brain & development, 42:171-178, Feb. 2020
  DOI:10.1016/j.braindev.2019.10.005
• 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
• Squamous cell carcinoma-like ungual fibroma as early diagnostic indicators of tuberous sclerosis complex in an elderly patient, (Kae Yokoyama), Yo Niida, Takaharu Ikeda, Kazuo Takahashi, Tamihiro Kawakami, Journal of Cutaneous Immunology and Allergy, 3:111-112, Oct. 2020
• B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease), (Yokoi Ayano), Niida Yo, Kuroda Mondo, Imi-Hashida Yoko, Toma Tomoko, Yachie Akihiro, Pediatric research, 86:85-91, Jul. 2019
  DOI:10.1038/s41390-018-0234-2
• A novel PHEX mutation associated with vitamin D-resistant rickets., (Sako Saori), Niida Yo, Shima Kosuke Robert, Takeshita Yumie, Ishii Kiyo-Aki, Takamura Toshinari, Human Genome Variation, 6:9, Feb. 2019
• Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family, (Shoji Tetsuaki), Konno Satoshi, Niida Yo, Ogi Takahiro, Suzuki Masaru, Shimizu Kaoruko, Hida Yasuhiro, Kaga Kichizo, Seyama Kuniaki, Naka Tomoaki, Matsuno Yoshihiro, Nishimura Masaharu, PLOS ONE, 14:e0212370, Feb. 2019
  DOI:10.1371/journal.pone.0212370
• Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration, Yasui Yoshitomo, Sato Hitoshi, Niida Yo, Kohno Miyuki, Congenital anomalies, 59:22-23, Jan. 2019
  DOI:10.1111/cga.12280
• Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex, (Kondo Takeshi), Niida Yo, Mizuguchi Masashi, Nagasaki Yasushi, Ueno Yasuhiro, Nishimura Akiyoshi, Legal medicine, 36:37-40, 2019
  DOI:10.1016/j.legalmed.2018.10.001
• Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex, Ishikawa, Hidehiro;Niwa, Atsushi;Asahi, Masaru;Matsuura, Keita;Masuzugawa, Satoshi;Niida, Yo;Maeda, Masayuki;Kondo, Mineo;Tomimoto, Hidekazu, JOURNAL OF CLINICAL NEUROSCIENCE, 48:108-110, Feb. 2018
  DOI:10.1016/j.jocn.2017.10.072
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model., Y. Niida, M. Inoue, M. Ozaki, E Takase, Cytogenetic and Genome Research, 153:56-65, Jan. 2018
  DOI:10.1159/000485227
• Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern, Niida, Yo;Ozaki, Mamoru;Shimizu, Masaki;Ueno, Kazuyuki;Tanaka, Tomomi, CYTOGENETIC AND GENOME RESEARCH, 154:137-146, 2018
  DOI:10.1159/000488572
• Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases, Bo, Ryosuke;Yamada, Kenji;Kobayashi, Hironori;Jamiyan, Purevsuren;Hasegawa, Yuki;Taketani, Takeshi;Fukuda, Seiji;Hata, Ikue;Niida, Yo;Shigematsu, Yosuke;Iijima, Kazumoto;Yamaguchi, Seiji, JOURNAL OF HUMAN GENETICS, 62:809-814, Sep. 2017
  DOI:10.1038/jhg.2017.52
• A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome, Niida, Yo;Mitani, Yusuke;Kuroda, Mondo;Yokoi, Ayano;Nakagawa, Hiroyasu;Kato, Akiko, CONGENITAL ANOMALIES, 57:86-88, May 2017
  DOI:10.1111/cga.12196
• Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1, Niida, Yo;Yokoi, Ayano;Kuroda, Mondo;Mitani, Yusuke;Nakagawa, Hiroyasu;Ozaki, Mamoru, BRAIN & DEVELOPMENT, 39:184-185, Feb. 2017
  DOI:10.1016/j.braindev.2016.08.009
• Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report, Y.Yasui,M.Kohno,S.Nishida,T.Shironomae,M.Satomi, T.Kuwahara, S.Takahashi, Y.Niida, CONGENITAL ANOMALIES, 57:32-34, Jan. 2017
  DOI:10.1111/cga.12175
• A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1., Y.Niida, A.Yokoi, M.Kuroda, Y.Mitani, H.Nakagawa, M.Ozaki, Brain & development, 38:674-677, 2016
  DOI:10.1016/j.braindev.2016.01.004
• A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family., Itoh Masatsune;Kittaka Yuko;Niida Yo;Saikawa Yutaka, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 25:115-118, 2016
  DOI:10.1297/cpe.25.115
• Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature, Y.Niida, H.Sato, M.Ozaki, M.Itoh, K.Ikeno, E.Takase, Cytogenetic and genome research, 149:247-257, 2016
• Oxytocin for male subjects with autism spectrum disorder and comorbid intellectual disabilities: A randomized pilot study, (T.Munesue), H.Nakamura, M.Kikuchi, Y.Miura, N.Takeuchi, T.Anme, E.Nanba, K.Adachi, K.Tsubouchi, Y.Sai, K.Miyamoto, S.Horike, S.Yokoyama, H.Nakatani, Y.Niida, H.Kosaka, Y.Minabe, H.Higashida, Frontiers in psychiatry, 7:1-11, 2016
  DOI:10.3389/fpsyt.2016.00002
• CHIPS for a mutation screening of a large sized gene: An example of NF2 analysis, Y.Niida, Pharmaceutia Analytica Acta, 6:440-440, Nov. 2015
  DOI:10.4172/2153-2435.1000440
• Radiological diagnosis of a neonate with mucolipidosis II (I-cell disease), Y.Niida, Clinical Medical Image Library, 1:17-18, Nov. 2015
• A girl with greig cephalopolysyndactyly contiguous gene deletion syndrome: The importance and usefulness of DNA microarray analysis, Y.Niida, M.Ozaki, E.Takase, T.Yokoyama, S.Yamada, Hereditary Genetics, S7:1-3, Oct. 2015
  DOI:10.4172/2161-1041.S7-004
• Finding gene mutations by the enzyme: Chips for a simple and highly sensitive enzyme mismatch cleavage method, Y.Niida, Enzyme Engineering, 4:131-131, Oct. 2015
  DOI:10.4172/2329-6674.1000131
• CHIPS to disseminate the genetic testing of rare diseases, Y.Niida, Gene Technology, 4:127-127, Sep. 2015
  DOI:10.4172/2329-6682.1000127
• How do you analyze a mutation of the gene consisting of one hundred exons?, Y.Niida, Advanced Techniques in Biology & Medicine, 3:138-138, Sep. 2015
  DOI:10.4172/2379-1764.1000138
• CHIPS for genetic testing to improve a regional clinical genetic service, Y.Niida, O.Ozaki, M.Inoue, E.Takase, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, S.Fujita, K.Yamada, Clinical Genetics, 88:155-160, Aug. 2015
  DOI:10.1111/cge.12463
• Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1., (A.Okumura), M.Ozaki, Y.Niida, Brain & Development, 37:677-689, Aug. 2015
  DOI:10.1016/j.braindev.2014.11.002
• Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions, (N.Hatta), A.Takata, S.Ishizawa, Y.Niida, Journal of Dermatology, 42:1087-1090, 2015
  DOI:10.1111/1346-8138.12949
• Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome, (M.Kuroda), M.Shimizu, N.Inoue, I.Ikeno, H.Nakagawa, A.Yokoi, Y.Niida, M.Konishi, H.Kaneda, N.Igarashi, J.Yamahana, H.Taneichi, H.Kanegane, M.Ito, S.Saito, K.Furuichi, T.Wada, M.Nakagawa, H.Yokoyama, A.Yachie, Neurochemistry International, 85-86:24-30, 2015
  DOI:10.1016/j.neuint.2015.04.003
• Development and Clinical Application of Mutation Screening Method “CHIPS”, Y.Niida, Journal of Kanazawa Medical University, 40:84-91, 2015
• An infant with recurrent convulsive seizures of 3 weeks duration: Questions, (Shimizu, Masaki);Niida, Yo;Koizumi, Shoichi;Yachie, Akihiro, PEDIATRIC NEPHROLOGY, 29:1951-1955, Jan. 2014
  DOI:10.1007/s00467-013-2615-4
• Intermittent X-Linked Thrombocytopenia With a Novel WAS Gene Mutation, (Wada, Taizo);Itoh, Masatsune;Maeba, Hideaki;Toma, Tomoko;Niida, Yo;Saikawa, Yutaka;Yachie, Akihiro, PEDIATRIC BLOOD & CANCER, 61:746-748, Jan. 2014
  DOI:10.1002/pbc.24787
• Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported., Y.Niida, A.Wakisaka, T.Tsuji, H.Yamada, M.Kuroda, Y.Mitani, A.Okumura, A.Yokoi, Journal of human genetics., 58:216-225, Apr. 2013
• Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation., N.Hayashi, H.Okuyama, Y.Matsui, H.Yamaya, E.Kinoshita, H.Minato, Y.Niida, H.Yokoyama, Clinical kidney journal., 6:295-299, Mar. 2013
• Anterior prefrontal hemodynamic connectivity in conscious 3- to 7-year-old children with typical development and autism spectrum disorder., (M.Kikuchi), Y.Yoshimura, K.Shitamichi, S.Ueno, H.Hiraishi, T.Minesue, T.Hirosawa, Y.Ono, T.Tsubokawa, Y.Inoue, M.Oi, Y.Niida, GB.Remijin, T.Takahashi, M.Suzuki, M.Higashida, Y.Minabe, PloS one, 8:e56087, Feb. 2013
• Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis, Yo Niida, Mondo Kuroda, Yusuke Mitani, Akiko Okumura, Ayano Yokoi, Molecular Genetics and Metabolism, 107:580-585, 2012
• 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
• Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update., Osawa T, Oya M, Okanishi T, Kuwatsuru R, Kawano H, Tomita Y, Niida Y, Nonomura N, Hatano T, Fujii Y, Mizuguchi M, Shinohara N., Int J Urol., 30:808-817, Oct. 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
• A rare case of 1q31.1-q32.1 deletion with congenital heart disease., Takarada S, Yoshimura N, Yo N, Hirono K., J Cardiol Cases., 28:7-10, Mar. 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
• Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases, Kunimasa Yagi, Satoko Okazaki, Azusa Ohbatake, Masako Nakaya, Jianhui Liu, Eiko Arite, Yukiko Miyamoto, Naoko Ito, Kaoru Nakano, Naoto Yamaaki, Hisae Honoki, Shiho Fujisaka, Daisuke Chujob, Shin-ichiro Tsunoda, Kunio Yanagimoto, Tsuyoshi Nozue, Masayo Yamada, Kotaro Ooe, Tsutomu Araki, Akikatsu Nakashima, Yasushi Azami, Yukio Sodemoto, Kenichi Tadokoro, Makoto Nagano, Tohru Noguchi, Atushi Nohara, Hideki Origasa, Yo Niida, Hayato Tada, Molecular Genetics and Metabolism, 140:107691, Nov. 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
  DOI:10.1038/s41439-024-00286-9
• Comparison of RNA-Sequencing Methods for Degraded RNA, Ura H, Niida Y., 25:6143, Jun. 2024
  DOI:10.3390/ijms25116143.
• 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
• Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer, Hisashi Nishiki, Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Hideto Fujita, Hiroyuki Takamura, Yo Niida, International Journal of Molecular Sciences, 26:1642, Feb. 2025
  DOI:10.3390/ijms26041642
• Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants, Hata, Yukiko;Oku, Yuko;Taneichi, Hiromichi;Tanaka, Tomomi;Igarashi, Noboru;Niida, Yo;Nishida, Naoki, BRAIN & DEVELOPMENT, 42:171-178, Feb. 2020
  DOI:10.1016/j.braindev.2019.10.005
• Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing, Ura, Hiroki;Togi, Sumihito;Niida, Yo, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21, May 2020
  DOI:10.3390/ijms21103530
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes, Asano Shoko;Sako Saori;Funasaki Yuka;Takeshita Yumie;Niida Yo;Takamura Toshinari, Endocrine Journal, 68:1135-1141, 2021
  DOI:10.1507/endocrj.EJ20-0809
• Application and limitations of prenatal diagnosis of pediatric neurological disease, Niida Yo, NO TO HATTATSU, 53:369-374, 2021
  DOI:10.11251/ojjscn.53.369
• Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing., Ura Hiroki;Togi Sumihito;Niida Yo, International journal of molecular sciences, 21, 2020
  DOI:10.3390/ijms21103530
• 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., Usuda Katsuo;Niida Yo;Iwai Shun;Funasaki Aika;Sekimura Atsushi;Motono Nozomu;Yamada Sohsuke;Uramoto Hidetaka, Frontiers in oncology, 10, 2020
  DOI:10.3389/fonc.2020.00689
• Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis., Ura Hiroki;Togi Sumihito;Niida Yo, RNA biology, 18, 2021
  DOI:10.1080/15476286.2021.1872961
• Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex., Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of molecular diagnostics : JMD, 23, 2021
  DOI:10.1016/j.jmoldx.2020.12.009
• Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression., Ura Hiroki;Togi Sumihito;Niida Yo, Biology, 10, 2021
  DOI:10.3390/biology10040256
• Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report., Ando Takayuki;Nakajima Takahiko;Fukuda Rei;Nomura Keiko;Niida Yo;Sakumura Miho;Motoo Iori;Mihara Hiroshi;Nanjo Sohachi;Kajiura Shinya;Fujinami Haruka;Hojo Shojo;Fujii Tsutomu;Yasuda Ichiro, BMC gastroenterology, 21, 2021
  DOI:10.1186/s12876-021-01902-6
• Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study., Togi Sumihito;Ura Hiroki;Niida Yo, Current issues in molecular biology, 43, 2021
  DOI:10.3390/cimb43020057
• The differential expression of perilipin-2 in hepatoblastoma and its association with prognosis., Azukisawa Sadafumi;Zheng Jianbo;Guo Xin;Ura Hiroki;Niida Yo;Itoh Tohru;Yamada Sohsuke, Histology and histopathology, 36, 2021
  DOI:10.14670/HH-18-371
• Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex., Shoji Tetsuaki;Niida Yo;Osawa Takahiro;Matsumoto Ryuji;Sakurai Kotaro;Suzuki Masaru;Matsuno Yoshihiro;Konno Satoshi, Respiratory medicine case reports, 34, 2021
  DOI:10.1016/j.rmcr.2021.101526
• TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma., Sasaki Tsuyoshi;Uda Takehiro;Kuki Ichiro;Kunihiro Noritsugu;Okazaki Shin;Niida Yo;Goto Takeo, Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 38, 2021
  DOI:10.1007/s00381-021-05399-y
• Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes., Niida Yo;Togi Sumihito;Ura Hiroki, International journal of molecular sciences, 22, 2021
  DOI:10.3390/ijms222313060
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes., Asano Shoko;Sako Saori;Funasaki Yuka;Takeshita Yumie;Niida Yo;Takamura Toshinari, Endocrine journal, 68, 2021
  DOI:10.1507/endocrj.EJ20-0809
• Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome., Kuroda Mondo;Shimizu Masaki;Inoue Natsumi;Ikeno Iku;Nakagawa Hiroyasu;Yokoi Ayano;Niida Yo;Konishi Michio;Kaneda Hisashi;Igarashi Noboru;Yamahana Junya;Taneichi Hiromichi;Kanegane Hirokazu;Ito Mika;Saito Shigeru;Furuichi Kengo;Wada Takashi;Nakagawa Masaru;Yokoyama Hitoshi;Yachie Akihiro, Neurochemistry international, 85-86, 2015
  DOI:10.1016/j.neuint.2015.04.003
• Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions., Hatta Naohito;Takata Akiko;Ishizawa Shin;Niida Yo, The Journal of dermatology, 42, 2015
  DOI:10.1111/1346-8138.12949
• Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report., Yasui Yoshitomo;Kohno Miyuki;Nishida Syouichi;Shironomae Tsubasa;Satomi Miwa;Kuwahara Tsuyoshi;Takahashi Sadayoshi;Niida Yo, Congenital anomalies, 57, 2017
  DOI:10.1111/cga.12175
• Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1., Niida Yo;Yokoi Ayano;Kuroda Mondo;Mitani Yusuke;Nakagawa Hiroyasu;Ozaki Mamoru, Brain & development, 39, 2017
  DOI:10.1016/j.braindev.2016.08.009
• A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome., Niida Yo;Mitani Yusuke;Kuroda Mondo;Yokoi Ayano;Nakagawa Hiroyasu;Kato Akiko, Congenital anomalies, 57, 2017
  DOI:10.1111/cga.12196
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model., Niida Yo;Inoue Mika;Ozaki Mamoru;Takase Etsuko, Cytogenetic and genome research, 153, 2017
  DOI:10.1159/000485227
• B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)., Yokoi Ayano;Niida Yo;Kuroda Mondo;Imi-Hashida Yoko;Toma Tomoko;Yachie Akihiro, Pediatric research, 86, 2019
  DOI:10.1038/s41390-018-0234-2
• A novel PHEX mutation associated with vitamin D-resistant rickets., Sako Saori;Niida Yo;Shima Kosuke Robert;Takeshita Yumie;Ishii Kiyo-Aki;Takamura Toshinari, Human genome variation, 6, 2019
  DOI:10.1038/s41439-019-0040-3
• Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family., Shoji Tetsuaki;Konno Satoshi;Niida Yo;Ogi Takahiro;Suzuki Masaru;Shimizu Kaoruko;Hida Yasuhiro;Kaga Kichizo;Seyama Kuniaki;Naka Tomoaki;Matsuno Yoshihiro;Nishimura Masaharu, PloS one, 14, 2019
  DOI:10.1371/journal.pone.0212370
• CHIPS for genetic testing to improve a regional clinical genetic service., Niida Y;Ozaki M;Inoue M;Takase E;Kuroda M;Mitani Y;Okumura A;Yokoi A;Fujita S;Yamada K, Clinical genetics, 88, 2015
  DOI:10.1111/cge.12463
• Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1., Okumura Akiko;Ozaki Mamoru;Niida Yo, Brain & development, 37, 2015
  DOI:10.1016/j.braindev.2014.11.002
• Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation., Hayashi Norifumi;Okuyama Hiroshi;Matsui Yuki;Yamaya Hideki;Kinoshita Eriko;Minato Hiroshi;Niida Yo;Yokoyama Hitoshi, Clinical kidney journal, 6, 2013
  DOI:10.1093/ckj/sft027
• 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)., Ura Hiroki;Togi Sumihito;Iwata Yumiko;Ozaki Mamoru;Niida Yo, Stem cell research, 61, 2022
  DOI:10.1016/j.scr.2022.102743
• Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis., Kato Hajime;Ansh Anenya J;Lester Ethan R;Kinoshita Yuka;Hidaka Naoko;Hoshino Yoshitomo;Koga Minae;Taniguchi Yuki;Uchida Taisuke;Yamaguchi Hideki;Niida Yo;Nakazato Masamitsu;Nangaku Masaomi;Makita Noriko;Takamura Toshinari;Saito Taku;Braddock Demetrios T;Ito Nobuaki, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 37, 2022
  DOI:10.1002/jbmr.4550
• A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis., Ura Hiroki;Togi Sumihito;Niida Yo, BMC genomics, 23, 2022
  DOI:10.1186/s12864-022-08543-3
• Novel PKD2 Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report., Miura Seiko;Niida Yo;Hashizume Chieko;Fujii Ai;Takagaki Yuta;Kusama Kahoru;Akazawa Sumiyo;Minami Tetsuya;Mukai Tsuyoshi;Furuichi Kengo;Tsuchishima Mutsumi;Ueda Nobuhiko;Takamura Hiroyuki;Koya Daisuke;Ito Tohru, Medicines (Basel, Switzerland), 9, 2022
  DOI:10.3390/medicines9040025
• Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report., Usuda Katsuo;Niida Yo;Ishikawa Masahito;Iwai Shun;Yamagata Aika;Iijima Yoshihito;Motono Nozomu;Yamada Sohsuke;Uramoto Hidetaka, Frontiers in oncology, 12, 2022
  DOI:10.3389/fonc.2022.858094
• Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events., Ura Hiroki;Togi Sumihito;Niida Yo, Scientific reports, 12, 2022
  DOI:10.1038/s41598-022-14902-7
• 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)., Ura Hiroki;Togi Sumihito;Iwata Yumiko;Ozaki Mamoru;Niida Yo, Stem cell research, 63, 2022
  DOI:10.1016/j.scr.2022.102860
• 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)., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 63, 2022
  DOI:10.1016/j.scr.2022.102867
• 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., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 64, 2022
  DOI:10.1016/j.scr.2022.102885
• Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits., Koshino Akihiko;Takaeda Chikako;Matsuno Takahiro;Kitajima Shinji;Iwata Yasunori;Sakai Norihiko;Nagahama Kiyotaka;Niida Yo;Saito Takao;Yokoyama Hitoshi;Wada Takashi, Case reports in nephrology and dialysis, 12, 2022
  DOI:10.1159/000525086
• Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 64, 2022
  DOI:10.1016/j.scr.2022.102926
• Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex., Togi Sumihito;Ura Hiroki;Hatanaka Hisayo;Niida Yo, International journal of molecular sciences, 23, 2022
  DOI:10.3390/ijms231911175
• The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion., Koya Terutsugu;Niida Yo;Togi Misa;Yoshida Kenichi;Sakamoto Takuya;Ura Hiroki;Togi Sumihito;Kato Tomohisa;Yamada Sohsuke;Sugiyama Haruo;Koido Shigeo;Shimodaira Shigetaka, International journal of molecular sciences, 23, 2022
  DOI:10.3390/ijms232012177
• Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies., Niida Yo;Togi Sumihito;Ura Hiroki, Cureus, 15, 2023
  DOI:10.7759/cureus.50482
• Astrocyte-induced mGluR1 activates human lung cancer brain metastasis via glutamate-dependent stabilization of EGFR., Ishibashi Kojiro;Ichinose Toshiya;Kadokawa Riki;Mizutani Ryo;Iwabuchi Sadahiro;Togi Sumihito;Ura Hiroki;Tange Shoichiro;Shinjo Keiko;Nakayama Jun;Nanjo Shigeki;Niida Yo;Kondo Yutaka;Hashimoto Shinichi;Sahai Erik;Yano Seiji;Nakada Mitsutoshi;Hirata Eishu, Developmental cell, 59, 2024
  DOI:10.1016/j.devcel.2024.01.010
• 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., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 77, 2024
  DOI:10.1016/j.scr.2024.103388
• Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome., Togi Sumihito;Ura Hiroki;Niida Yo, American journal of medical genetics. Part A, 194, 2024
  DOI:10.1002/ajmg.a.63628
• Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan., Ishikawa Marin;Nakamura Kohei;Kawano Ryutaro;Hayashi Hideyuki;Ikeda Tatsuru;Saito Makoto;Niida Yo;Sasaki Jiichiro;Okuda Hiroyuki;Ishihara Satoshi;Yamaguchi Masatoshi;Shimada Hideaki;Isobe Takeshi;Yuza Yuki;Yoshimura Akinobu;Kuroda Hajime;Yukisawa Seigo;Aoki Takuya;Takeshita Kei;Ueno Shinichi;Nakazawa Junichi;Sunakawa Yu;Nohara Sachio;Okada Chihiro;Nishimiya Ko;Tanishima Shigeki;Nishihara Hiroshi, Cancers, 16, 2024
  DOI:10.3390/cancers16081504
• Comparison of RNA-Sequencing Methods for Degraded RNA., Ura Hiroki;Niida Yo, International journal of molecular sciences, 25, 2024
  DOI:10.3390/ijms25116143
• Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency., Niida Yo;Fujita Wataru;Togi Sumihito;Ura Hiroki, Human genome variation, 11, 2024
  DOI:10.1038/s41439-024-00286-9
• Individualized tacrolimus therapy: Insights from CYP3A5 polymorphisms and intestinal metabolism., Mishima Mizuki;Yabe Tomohisa;Kondo Takaya;Fujimoto Keiji;Takata Ryoji;Yokoyama Hitoshi;Niida Yo;Tanaka Tatsuro;Miyazawa Katsuhito;Furuichi Kengo, Clinical case reports, 12, 2024
  DOI:10.1002/ccr3.9416
• Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome., Hashimoto Kazuhiko;Hayashida Takuya;Otsubo Yoshikazu;Niida Yo;Dateki Sumito, Cureus, 16, 2024
  DOI:10.7759/cureus.67800
• CYLD novel splicing mutation in a patient with CYLD cutaneous syndrome with basal cell carcinomas., Nishio Jiro;Hatta Naohito;Ishii Takayuki;Yamamoto Keiko;Shirasaki Fumiaki;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 52, 2025
  DOI:10.1111/1346-8138.17584
• Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 84, 2025
  DOI:10.1016/j.scr.2025.103671
• Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome., Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Niida Yo, Stem cell research, 84, 2025
  DOI:10.1016/j.scr.2025.103688
• Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM., Saito Shoma;Suzuki Shigeru;Izumi Kengo;Kamiyama Takumi;Saito Kosuke;Yamamura Hinako;Kokumai Takahide;Furuya Akiko;Taketazu Genya;Makita Yoshio;Niida Yo;Takahashi Satoru, American journal of medical genetics. Part A, 197, 2025
  DOI:10.1002/ajmg.a.64024
• Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer., Nishiki Hisashi;Ura Hiroki;Togi Sumihito;Hatanaka Hisayo;Fujita Hideto;Takamura Hiroyuki;Niida Yo, International journal of molecular sciences, 26, 2025
  DOI:10.3390/ijms26041642
• A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the ABCC6 gene: A quarter-century treatment experience., Wakasa Minoru;Nakagawa Chihiro;Takamura Taka-Aki;Fujibayashi Kosuke;Akao Hironobu;Kitayama Michihiko;Shimizu Akira;Niida Yo;Kajinami Kouji, Atherosclerosis plus, 60, 2025
  DOI:10.1016/j.athplu.2025.03.001
• Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)., Ura Hiroki;Hatanaka Hisayo;Togi Sumihito;Niida Yo, International journal of molecular sciences, 26, 2025
  DOI:10.3390/ijms26073220
• A Case of Pseudoxanthoma Elasticum Caused by a Novel Structural Variant of the ABCC6 Gene., Yurika Abe;Takamiya Yuko;Ono Hiroto;Takeda Kiminobu;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 52, 2025
  DOI:10.1111/1346-8138.17821
• A Case of Prolidase Deficiency With Long-Term Clinical Follow-Up., Ono Hiroto;Ono Yoko;Uchiyama Eri;Takeda Kiminobu;Ochiai Sawako;Togi Sumihito;Ura Hiroki;Niida Yo;Shimizu Akira, The Journal of dermatology, 52, 2025
  DOI:10.1111/1346-8138.17909
• A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene., Ochiai Sawako;Ono Hiroto;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, The Journal of dermatology, 2025
  DOI:10.1111/1346-8138.70078
• 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 Hiroki;Togi Sumihito;Ozaki Mamoru;Hatanaka Hisayo;Niida Yo, Stem cell research, 69, 2023
  DOI:10.1016/j.scr.2023.103075
• Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review., Ono Hiroto;Yamaguchi Reimon;Arai Minako;Togi Sumihito;Ura Hiroki;Niida Yo;Shimizu Akira, The Journal of dermatology, 50, 2023
  DOI:10.1111/1346-8138.16822
• 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 Hiroki;Togi Sumihito;Ozaki Mamoru;Hatanaka Hisayo;Niida Yo, Stem cell research, 70, 2023
  DOI:10.1016/j.scr.2023.103129
• Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update., Osawa Takahiro;Oya Mototsugu;Okanishi Tohru;Kuwatsuru Ryohei;Kawano Haruna;Tomita Yoshihiko;Niida Yo;Nonomura Norio;Hatano Takashi;Fujii Yasuhisa;Mizuguchi Masashi;Shinohara Nobuo, International journal of urology : official journal of the Japanese Urological Association, 30, 2023
  DOI:10.1111/iju.15213
• A rare case of 1q31.1-q32.1 deletion with congenital heart disease., Takarada Shinya;Yoshimura Naoki;Yo Niida;Hirono Keiichi, Journal of cardiology cases, 28, 2023
  DOI:10.1016/j.jccase.2023.02.017
• Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells., 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, Cancers, 15, 2023
  DOI:10.3390/cancers15143627
• Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases., Yagi Kunimasa;Okazaki Satoko;Ohbatake Azusa;Nakaya Masako;Liu Jianhui;Arite Eiko;Miyamoto Yukiko;Ito Naoko;Nakano Kaoru;Yamaaki Naoto;Honoki Hisae;Fujisaka Shiho;Chujo Daisuke;Tsunoda Shin-Ichiro;Yanagimoto Kunio;Nozue Tsuyoshi;Yamada Masayo;Ooe Kotaro;Araki Tsutomu;Nakashima Akikatsu;Azami Yasushi;Sodemoto Yukio;Tadokoro Kenichi;Nagano Makoto;Noguchi Tohru;Nohara Atushi;Origasa Hideki;Niida Yo;Tada Hayato, Molecular genetics and metabolism, 140, 2023
  DOI:10.1016/j.ymgme.2023.107691
• Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex., Ura Hiroki;Togi Sumihito;Niida Yo, Frontiers in genetics, 14, 2023
  DOI:10.3389/fgene.2023.1256064
• An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture., Matsuba Shintaro;Ura Hiroki;Saito Fumiji;Ogasawara Chie;Shimodaira Shigetaka;Niida Yo;Onai Nobuyuki, Frontiers in immunology, 14, 2023
  DOI:10.3389/fimmu.2023.1264609
• Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy., Niida Yo;Kobayashi Azusa;Togi Sumihito;Ura Hiroki, Human genome variation, 10, 2023
  DOI:10.1038/s41439-023-00257-6
• 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., Nomura Fumie;Shimizu Akira;Togi Sumihito;Ura Hiroki;Niida Yo, Genes, 14, 2023
  DOI:10.3390/genes14112079
• 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., Okada Naoki;Shioya Akihiro;Togi Sumihito;Ura Hiroki;Niida Yo, Cureus, 15, 2023
  DOI:10.7759/cureus.50484