# David Fitzpatrick

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/david-fitzpatrick/

## Facts

| Field | Value |
| --- | --- |
| Citations | 40,055 |
| Field | Genomics and Rare Diseases |
| h-index | 103 |
| i10-index | 303 |
| Last Known Institution | Western General Hospital |
| OpenAlex ID | https://openalex.org/A5055650452 |
| ORCID iD | https://orcid.org/0000-0003-4861-969X |
| Works | 564 |

## Researcher papers

- [Mutations in SOX2 cause anophthalmia](https://scholariq.org/papers/mutations-in-sox2-cause-anophthalmia/)
- [PIONEER 1: Randomized Clinical Trial of the Efficacy and Safety of Oral Semaglutide Monotherapy in Comparison With Placebo in Patients With Type 2 Diabetes](https://scholariq.org/papers/pioneer-1-randomized-clinical-trial-of-the-efficacy-and-safety-of-oral/)
- [High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies](https://scholariq.org/papers/high-rate-of-recurrent-de-novo-mutations-in-developmental-and-epileptic/)
- [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies](https://scholariq.org/papers/the-genomic-landscape-of-balanced-cytogenetic-abnormalities-associated-with/)
- [Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations](https://scholariq.org/papers/heterozygous-mutations-of-otx2-cause-severe-ocular-malformations/)
- [<i>SOX2</i> anophthalmia syndrome](https://scholariq.org/papers/i-sox2-i-anophthalmia-syndrome/)
- [Variant detection sensitivity and biases in whole genome and exome sequencing](https://scholariq.org/papers/variant-detection-sensitivity-and-biases-in-whole-genome-and-exome-sequencing/)
- [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/)
- [Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families](https://scholariq.org/papers/discovery-of-four-recessive-developmental-disorders-using-probabilistic-genotype/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [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/)
- [Ocular Disorders and Treatments](https://scholariq.org/topics/ocular-disorders-and-treatments/)
- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)

## Researcher university

- [Western General Hospital](https://scholariq.org/institutions/western-general-hospital/)

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