James O'Sullivan

University of Manchester

United Kingdom

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Articles (10)

Year:

2025

Year:

2024

Year:

2024

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2023

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2023

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2021

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2021

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2021

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2021

Year:

2020

Collaborators (14)

Stuart Wright

The University of Manchester

UNITED KINGDOM

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Neil Pendleton

Professor of Medical Gerontology

The University of Manchester

UNITED KINGDOM

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Pratik Choudhary

Professor of Diabetes

University of Leicester

UNITED KINGDOM

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Raymond T O'Keefe

The University of Manchester

UNITED KINGDOM

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Simon Williams

The University of Manchester

UNITED KINGDOM

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Spyridon Megremis

Lecturer in Microbial and Phage Biology

University of Leicester

UNITED KINGDOM

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Janine Lamb

The University of Manchester

UNITED KINGDOM

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Walter Rossmanith

Medical University of Vienna

AUSTRIA

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Hugh J. McMillan

McGill University

CANADA

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Thomas Walker

The University of Manchester

UNITED KINGDOM

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kevin munro

The University of Manchester

UNITED KINGDOM

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Katherine Payne

The University of Manchester

UNITED KINGDOM

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Wyatt Yue

UNITED KINGDOM

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James O'Sullivan

Research Interests

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Articles (10)

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

Pre-Emptive Pharmacogenetics in The Acute Hospital Setting: A Cross-Sectional Study

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Beta-cell death and dysfunction drives hyperglycaemia in organ donors.

3MC syndrome

Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency

A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Collaborators (14)

Stuart Wright

Neil Pendleton

Pratik Choudhary

Raymond T O'Keefe

Simon Williams

Spyridon Megremis

Janine Lamb

Walter Rossmanith

Hugh J. McMillan

Thomas Walker

kevin munro

Siddharth Banka

Katherine Payne

Wyatt Yue

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