Marsh, Joseph A.

Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects

Robertson, N. A., Latorre-Crespo, E., Terradas-Terradas, M., Lemos-Portela, J., Purcell, A. C., Livesey, B. J., Hillary, R. F., Murphy, L., Fawkes, A., MacGillivray, L., et al. (2022) · Nature Medicine

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 132

Protein aggregation mediates stoichiometry of protein complexes in aneuploid cells

Brennan, C. M., Vaites, L. P., Wells, J. N., Santaguida, S., Paulo, J. A., Storchova, Z., Harper, J. W., Marsh, J. A., & Amon, A. (2019) · Genes & Development

Microtubule and mitosis dynamicsHeat shock proteins research

Cited by 109

Cotranslational protein assembly imposes evolutionary constraints on homomeric proteins

Natan, E., Endoh, T., Haim-Vilmovsky, L., Flock, T., Chalancon, G., Hopper, J. T. S., Kintses, B., Horvath, P., Daruka, L., Fekete, G., et al. (2018) · Nature Structural & Molecular Biology

RNA and protein synthesis mechanismsProtein Structure and Dynamics

Cited by 56

Variant effect predictor correlation with functional assays is reflective of clinical classification performance

Livesey, B. J., & Marsh, J. A. (2025) · Genome Biology

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 50

Variant effect predictor correlation with functional assays is reflective of clinical classification performance

Livesey, B. J., & Marsh, J. A. (2024) · Genome biology

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 50

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

Gerasimavicius, L., Livesey, B. J., & Marsh, J. A. (2023) · Protein Science

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 41

Buffering of genetic dominance by allele-specific protein complex assembly

Badonyi, M., & Marsh, J. A. (2023) · Science Advances

Genomics and Rare DiseasesRNA and protein synthesis mechanisms

Cited by 24

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes

Fawzy, M., & Marsh, J. A. (2024) · Scientific Reports

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 22

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

Badonyi, M., & Marsh, J. A. (2025) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 19

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

Badonyi, M., & Marsh, J. A. (2025) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 19

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

Fawzy, M., & Marsh, J. A. (2025) · PLOS Computational Biology

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 18

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

Fawzy, M., & Marsh, J. A. (2025) · PLoS Computational Biology

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 18

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

McDonnell, A. F., Plech, M., Livesey, B. J., Gerasimavicius, L., Owen, L. J., Hall, H. N., FitzPatrick, D. R., Marsh, J. A., & Kudla, G. (2024) · Molecular Systems Biology

Genomics and Rare DiseasesOcular Disorders and Treatments

Cited by 16

Variant scoring tools for deep mutational scanning

Çubuk, H., Jin, X., Phipson, B., Marsh, J. A., & Rubin, A. F. (2025) · Molecular Systems Biology

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 13

Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations

Gilly, A., Klaric, L., Park, Y.-C., Png, G., Barysenka, A., Marsh, J. A., Tsafantakis, E., Karaleftheri, M., Dedoussis, G., Wilson, J. F., et al. (2022) · Molecular Metabolism

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 7

Why variant effect predictors and multiplexed assays agree and disagree

Livesey, B. J., & Marsh, J. A. (2025) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 7

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Badonyi, M., & Marsh, J. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 6

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

Gerasimavicius, L., Livesey, B. J., & Marsh, J. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 5