# Toshiro Nagai

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/toshiro-nagai/

## Facts

| Field | Value |
| --- | --- |
| Citations | 9,078 |
| Field | Genetic Syndromes and Imprinting |
| h-index | 49 |
| i10-index | 129 |
| Last Known Institution | Nakagawanosato Hospital for the Disabled |
| OpenAlex ID | https://openalex.org/A5077203186 |
| Works | 224 |

## Researcher papers

- [Haploinsufficiency of NSD1 causes Sotos syndrome](https://scholariq.org/papers/haploinsufficiency-of-nsd1-causes-sotos-syndrome/)
- [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/)
- [ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms](https://scholariq.org/papers/itpkc-functional-polymorphism-associated-with-kawasaki-disease-susceptibility/)
- [A genome-wide association study identifies three new risk loci for Kawasaki disease](https://scholariq.org/papers/a-genome-wide-association-study-identifies-three-new-risk-loci-for-kawasaki/)
- [Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia](https://scholariq.org/papers/gain-of-function-mutations-in-trpv4-cause-autosomal-dominant-brachyolmia/)
- [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/)
- [Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST](https://scholariq.org/papers/silver-russell-syndrome-in-a-girl-born-after-in-vitro-fertilization-partial/)
- [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/)
- [Serotonin Transporter Gene Variation Is a Risk Factor for Sudden Infant Death Syndrome in the Japanese Population](https://scholariq.org/papers/serotonin-transporter-gene-variation-is-a-risk-factor-for-sudden-infant-death/)
- [Decline of CSF orexin (hypocretin) levels in Prader–Willi syndrome](https://scholariq.org/papers/decline-of-csf-orexin-hypocretin-levels-in-prader-willi-syndrome/)

## Researcher topics

- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities](https://scholariq.org/topics/genetic-and-clinical-aspects-of-sex-determination-and-chromosomal-abnormalities/)

## Researcher university

- [Nakagawanosato Hospital for the Disabled](https://scholariq.org/institutions/nakagawanosato-hospital-for-the-disabled/)

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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.