Joseph Marsh

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University of Edinburgh

United Kingdom

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Recent Grants

Grant: Close

The dominant-negative effect in protein complexes: implications for human genetic disease

Open Date: 2018-10-01

Close Date: 2023-09-01

Grant: Close

Protein Complexes and Human Genetic Disease

Open Date: 2015-06-30

Close Date: 2020-06-29

Grant: Close

Large-scale analysis of protein flexibility and dynamics and their relation to molecular recognition

Open Date: 2010-05-01

Close Date: 2013-04-30

Grant: Close

Strucural chracterizatiion of disorder states of proteins

Open Date: 2008-04-01

Close Date: 2009-03-31

Grant: Close

Strucural chracterizatiion of disorder states of proteins

Open Date: 2007-04-01

Close Date: 2008-03-31

Articles (17)

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2025

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2022

Collaborators (12)

Kathryn P Burdon

University of Tasmania

AUSTRALIA

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Juho Wedenoja

University of Helsinki

FINLAND

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Joe Rainger

University of Edinburgh

UNITED KINGDOM

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Paul Baird

Professorial Fellow

University of Melbourne

AUSTRALIA

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Stuart MacGregor

Professor

QIMR Berghofer Medical Research Institute

AUSTRALIA

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Jamie Craig

Flinders University

AUSTRALIA

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David R. FitzPatrick

Professor

University of Edinburgh

UNITED KINGDOM

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Joan Bailey-Wilson

Co-Branch Chief

National Human Genome Research Institute

UNITED STATES

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Seyhan Yazar

University of Western Australia

AUSTRALIA

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Kenji Yamashiro

Professor and Chairman

Kochi Medical School, Kochi University

JAPAN

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Virginie Verhoeven

Erasmus University Rotterdam

NETHERLANDS

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Benjamin Livesey

University of Edinburgh

UNITED KINGDOM

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Joseph Marsh

Research Interests

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Recent Grants

Articles (17)

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

Variant scoring tools for deep mutational scanning

Leveraging protein structural information to improve variant effect prediction

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Advancing variant effect prediction using protein language models

Updated benchmarking of variant effect predictors using deep mutational scanning

Correspondence between functional scores from deep mutational scans and predicted effects on protein stability

Buffering of genetic dominance by allele-specific protein complex assembly

Hallmarks and evolutionary drivers of cotranslational protein complex assembly

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations

Large protein complex interfaces have evolved to promote cotranslational assembly

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Collaborators (12)

Kathryn P Burdon

Juho Wedenoja

Joe Rainger

Paul Baird

Stuart MacGregor

Jamie Craig

David R. FitzPatrick

Joan Bailey-Wilson

Seyhan Yazar

Kenji Yamashiro

Virginie Verhoeven

Benjamin Livesey

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