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Genetics and Molecular Biology
Japan
2024

D-Index & Metrics

Genetics

D-Index
90
Citations
46475
World Ranking
1061
National Ranking
39

Medicine

D-Index
90
Citations
46504
World Ranking
11974
National Ranking
353

Research.com Recognitions

  • 2024 - Research.com Genetics and Molecular Biology in Japan Leader Award

Overview

Norio Niikawa is affiliated with the Health Sciences University of Hokkaido in Japan. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, emphasizing genetics and molecular biology as key subfields. The scientist's work prominently engages with topics including genomics and rare diseases, genetic syndromes and imprinting, as well as congenital heart defects research.

Their publication record features contributions to notable scholarly venues, with a majority of papers appearing in the American Journal of Medical Genetics Part C Seminars in Medical Genetics. Other work has been published in Endocrine Connections. This distribution underscores a focus on genetics-related medical research.

  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Endocrine Connections

Among the recent publications, several papers stand out for their content and publication year:

  • Table of Contents, Volume 193, Number 1, March 2023, published in American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants, 2022, published in Endocrine Connections
  • Table of Contents, Volume 190, Number 4, December 2022, published in American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Cover Image, Volume 193, Number 2, June 2023, published in American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Table of Contents, Volume 193, Number 2, June 2023, published in American Journal of Medical Genetics Part C Seminars in Medical Genetics

Frequent co-authors collaborating with Norio Niikawa include:

  • Benjamin D. Solomon
  • John M. Carey
  • John M. Opitz
  • Edward G. Clark
  • Uta Francke

The scientist's research contributions mainly address genetic and molecular mechanisms underlying rare diseases and congenital conditions. Their work on genetic syndromes and imprinting further reflects detailed investigation into hereditary influences. Likewise, studies related to congenital heart defects form a part of their research scope, demonstrating a clinical interest intersecting with genetics.

Best Publications

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • Genome-wide detection and characterization of positive selection in human populations

    Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • Mapping human genetic diversity in Asia

    Mahmood Ameen Abdulla;Ikhlak Ahmed;Anunchai Assawamakin;Anunchai Assawamakin;Jong Bhak

  • Heterozygous TGFBR2 mutations in Marfan syndrome

    Takeshi Mizuguchi;Gwenaëlle Collod-Beroud;Takushi Akiyama;Marianne Abifadel

  • ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells.

    Junya Masumoto;Shun'ichiro Taniguchi;Koichi Ayukawa;Haritha Sarvotham

  • Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

    Norio Niikawa;Nobuo Matsuura;Yoshimitsu Fukushima;Tadashi Ohsawa

  • Haploinsufficiency of NSD1 causes Sotos syndrome

    Naohiro Kurotaki;Kiyoshi Imaizumi;Naoki Harada;Mitsuo Masuno

  • Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

    Norio Niikawa;Yoshikazu Kuroki;Tadashi Kajii;Nobuo Matsuura

  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

    Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho

  • An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.

    Izuho Hatada;Hirofumi Ohashi;Yoshimitsu Fukushima;Yasuhiko Kaneko

  • Involvement of claudin-1 in the beta-catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers.

    Nobutomo Miwa;Mikio Furuse;Shoichiro Tsukita;Norio Niikawa

  • Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

    K. Yamasaki;K. Joh;T. Ohta;H. Masuzaki

  • Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

    Kazuhiko Arima;Akira Kinoshita;Hiroyuki Mishima;Nobuo Kanazawa

  • A SNP in the ABCC11 gene is the determinant of human earwax type

    Koh Ichiro Yoshiura;Akira Kinoshita;Takafumi Ishida;Aya Ninokata

  • Anatomic and chromosomal anomalies in 639 spontaneous abortuses

    T. Kajii;A. Ferrier;N. Niikawa;H. Takahara

  • Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

    Akira Kinoshita;Takashi Saito;Hiro Aki Tomita;Yoshio Makita

  • LIT1, an Imprinted Antisense RNA in the Human KvLQT1 Locus Identified by Screening for Differentially Expressed Transcripts Using Monochromosomal Hybrids

    Kohzoh Mitsuya;Makiko Meguro;Maxwell P. Lee;Motonobu Katoh

Frequent Co-Authors

Naomichi Matsumoto
Naomichi Matsumoto Yokohama City University
Koh-ichiro Yoshiura
Koh-ichiro Yoshiura Nagasaki University
Yoshimitsu Fukushima
Yoshimitsu Fukushima Shinshu University
Hirofumi Ohashi
Hirofumi Ohashi Saitama Children's Medical Center
Yusuke Nakamura
Yusuke Nakamura National Institutes of Biomedical Innovation, Health and Nutrition
Nobuhiko Okamoto
Nobuhiko Okamoto Osaka University
Noriko Miyake
Noriko Miyake Yokohama City University
Hirotomo Saitsu
Hirotomo Saitsu Hamamatsu University
Mitsuhiro Kato
Mitsuhiro Kato Showa University
Yoshinori Tsurusaki
Yoshinori Tsurusaki Sagami Women's University

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