David R FitzPatrick

13PUBLICATIONS
69CO-AUTHORS
Predictive and prognostic markersEpigenetics (incl. genome methylation and epigenomics)Gene mappingMolecular evolutionGene expression (incl. microarray and other genome-wide approaches)
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Publications (13)

|Jun 07, 2024
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.

Alexander F McDonnell, Marcin Plech, Benjamin J Livesey

|Apr 26, 2024
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.

Birthe Dorgau, Joseph Collin, Agata Rozanska

|Apr 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt

|Nov 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel

|Aug 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

Hemant Bengani, Detelina Grozeva, Lambert Moyon

|Nov 09, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen

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Frequent Collaborators

3 joint publications

Wendy A Bickmore

3 joint publications

Madapura M Pradeepa

3 joint publications

Caroline F Wright

2 joint publications

Hildegard Nikki Hall