Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

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)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (13)

Sort by Publication Date:

|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

Pageof 3

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

2 joint publications

Joseph A Marsh

2 joint publications

Veronica van Heyningen

1 joint publications

Grzegorz Kudla

1 joint publications

Hilary C Martin

1 joint publications

Wendy D Jones

1 joint publications

James D Stephenson

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

Top Related Videos

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on : Jul 25, 2020

Single-cell Profiling of Developing and Mature Retinal Neurons

Single-cell Profiling of Developing and Mature Retinal Neurons

Published on : Apr 19, 2012

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on : Jun 23, 2012

See more related videos

Top Related Videos

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on : Jul 25, 2020

Single-cell Profiling of Developing and Mature Retinal Neurons

Single-cell Profiling of Developing and Mature Retinal Neurons

Published on : Apr 19, 2012

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on : Jun 23, 2012

See more related videos