FacultyDepartment of Advanced Medicine

Researcher Profile & Settings


    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.


  • Kanazawa University Graduate School


  • Ph.D in Medicine

Association Memberships

  • 20142015Japan Pediatric Society
  • 2009The Japanese society of child neurology
  • 20022015The Japanese society of human genetics

Research Activities

Research Areas

  • Medicine,dentistry, and pharmacy / Genome science
    Research Project: Clinical genomics

Published Papers

  • 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 Research153:56-65Jan. 2018
  • 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 GENETICS62:809-814Sep. 2017
  • 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 ANOMALIES57:86-88May 2017
  • 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 & DEVELOPMENT39:184-185Feb. 2017
  • 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 ANOMALIES57:32-34Jan. 2017
  • 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 research149:247-2572016
  • 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 & development38:674-6772016
  • 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 Endocrinology25:115-1182016
  • 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 psychiatry7:1-112016
  • CHIPS for a mutation screening of a large sized gene: An example of NF2 analysis, Y.Niida, Pharmaceutia Analytica Acta6:440-440Nov. 2015
  • Radiological diagnosis of a neonate with mucolipidosis II (I-cell disease), Y.Niida, Clinical Medical Image Library1:17-18Nov. 2015
  • Finding gene mutations by the enzyme: Chips for a simple and highly sensitive enzyme mismatch cleavage method, Y.Niida, Enzyme Engineering4:131-131Oct. 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 GeneticsS7:1-3Oct. 2015
  • How do you analyze a mutation of the gene consisting of one hundred exons?, Y.Niida, Advanced Techniques in Biology & Medicine3:138-138Sep. 2015
  • CHIPS to disseminate the genetic testing of rare diseases, Y.Niida, Gene Technology4:127-127Sep. 2015
  • 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 & Development37:677-689Aug. 2015
  • 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 Genetics88:155-160Aug. 2015
  • 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 International85-86:24-302015
  • Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions, (N.Hatta), A.Takata, S.Ishizawa, Y.Niida, Journal of Dermatology42:1087-10902015
  • Development and Clinical Application of Mutation Screening Method “CHIPS”, Y.Niida, Journal of Kanazawa Medical University40:84-912015
  • 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 & CANCER61:746-748Jan. 2014
  • An infant with recurrent convulsive seizures of 3 weeks duration: Questions, (Shimizu, Masaki);Niida, Yo;Koizumi, Shoichi;Yachie, Akihiro, PEDIATRIC NEPHROLOGY29:1951-1955Jan. 2014
  • 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.58:216-225Apr. 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.6:295-299Mar. 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 one8:e56087Feb. 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 Metabolism107:580-5852012
  • Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex., Kondo Takeshi;Niida Yo;Mizuguchi Masashi;Nagasaki Yasushi;Ueno Yasuhiro;Nishimura Akiyoshi, Legal medicine (Tokyo, Japan)362018
  • 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 NEUROSCIENCE48:108-110Feb. 2018
  • 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 RESEARCH154:137-1462018
  • 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 anomalies59:22-23Jan. 2019

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