# Dian Donnai

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/dian-donnai/

## Facts

| Field | Value |
| --- | --- |
| Citations | 16,774 |
| Field | Genomics and Rare Diseases |
| h-index | 68 |
| i10-index | 184 |
| Last Known Institution | Manchester University NHS Foundation Trust |
| OpenAlex ID | https://openalex.org/A5076541018 |
| Works | 292 |

## Researcher papers

- [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/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [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/)
- [BRCA gene mutations in cancer](https://scholariq.org/topics/brca-gene-mutations-in-cancer/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

## Researcher university

- [Manchester University NHS Foundation Trust](https://scholariq.org/institutions/manchester-university-nhs-foundation-trust/)

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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.