# Jill Clayton‐Smith

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/jill-clayton-smith/

## Facts

| Field | Value |
| --- | --- |
| Citations | 28,190 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 94 |
| i10-index | 258 |
| Last Known Institution | St Mary's Hospital |
| OpenAlex ID | https://openalex.org/A5056744774 |
| ORCID iD | https://orcid.org/0000-0002-9602-2321 |
| Works | 376 |

## Researcher papers

- [Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations](https://scholariq.org/papers/human-osteoclast-poor-osteopetrosis-with-hypogammaglobulinemia-due-to-tnfrsf11a/)
- [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/)
- [Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism](https://scholariq.org/papers/genetic-heterogeneity-in-cornelia-de-lange-syndrome-cdls-and-cdls-like/)
- [LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome](https://scholariq.org/papers/lrp4-mutations-alter-wnt-catenin-signaling-and-cause-limb-and-kidney/)

## Researcher topics

- [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 Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Pharmacological Effects and Toxicity Studies](https://scholariq.org/topics/pharmacological-effects-and-toxicity-studies/)

## Researcher university

- [St Mary's Hospital](https://scholariq.org/institutions/st-mary-s-hospital/)

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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.