World's Best Scientists 2026 revealed!
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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

Norio Niikawa publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Norio Niikawa sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 417 publications — 89th percentile

89% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Norio Niikawa D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Norio Niikawa sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 90 D-Index — 76th percentile

76% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

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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