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, M.Itoh, Y.Kittaka, Y.Niida, Y.Saikawa, 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.
• Individualized tacrolimus therapy: Insights from CYP3A5 polymorphisms and intestinal metabolism, Mizuki Mishima, Tomohisa Yabe, Takaya Kondo, Keiji Fujimoto, Ryoji Takata, Hitoshi Yokoyama, Yo Niida, Tatsuro Tanaka, Katsuhito Miyazawa, Kengo Furuichi, Clinical Case Reports, 12:e9416, Sep. 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