# Norio Niikawa

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/norio-niikawa/

## Facts

| Field | Value |
| --- | --- |
| Citations | 30,750 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 72 |
| i10-index | 253 |
| Last Known Institution | Health Sciences University of Hokkaido |
| OpenAlex ID | https://openalex.org/A5113765382 |
| Works | 434 |

## Researcher papers

- [The International HapMap Project](https://scholariq.org/papers/the-international-hapmap-project/)
- [Haploinsufficiency of NSD1 causes Sotos syndrome](https://scholariq.org/papers/haploinsufficiency-of-nsd1-causes-sotos-syndrome/)
- [Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency](https://scholariq.org/papers/kabuki-make-up-syndrome-a-syndrome-of-mentalretardation-unusual-facies-large-and/)
- [Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome](https://scholariq.org/papers/mutations-affecting-components-of-the-swi-snf-complex-cause-coffin-siris/)
- [Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients](https://scholariq.org/papers/kabuki-make-up-niikawa-kuroki-syndrome-a-study-of-62-patients/)
- [An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome](https://scholariq.org/papers/an-imprinted-gene-p57kip2-is-mutated-in-beckwith-wiedemann-syndrome/)
- [Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome](https://scholariq.org/papers/proteasome-assembly-defect-due-to-a-proteasome-subunit-beta-type-8-psmb8/)
- [Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III](https://scholariq.org/papers/genotypic-and-phenotypic-spectrum-in-tricho-rhino-phalangeal-syndrome-types-i/)
- [Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome](https://scholariq.org/papers/spectrum-of-i-mll2-i-i-alr-i-mutations-in-110-cases-of-kabuki-syndrome/)
- [<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome](https://scholariq.org/papers/i-mll2-i-and-i-kdm6a-i-mutations-in-patients-with-kabuki-syndrome/)

## Researcher topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Epigenetics and DNA Methylation](https://scholariq.org/topics/epigenetics-and-dna-methylation/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Researcher university

- [Health Sciences University of Hokkaido](https://scholariq.org/institutions/health-sciences-university-of-hokkaido/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.