Publications by authors named "Joseph Marsh"

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Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Orla Deevy, Jingjing Li, Craig Monger, Francesca Matrà, Ellen Tuck, Joseph A Marsh

Genes Dev· November 2025

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Variant scoring tools for deep mutational scanning.
Hasan Çubuk, Xinyi Jin, Belinda Phipson, Joseph A Marsh, Alan F Rubin

Mol Syst Biol· October 2025

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acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework.
Mihaly Badonyi, Joseph A Marsh

Bioinformatics· October 2025

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Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Rolando Hernández Trapero, Mihaly Badonyi, Lukas Gerasimavicius, Joseph A Marsh

Hum Mutat· October 2025

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Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.
Mihaly Badonyi, Joseph A Marsh

Nat Commun· September 2025

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Stratified distributional analysis-a novel perspective on RT distributions.
Rüdiger Thul, Joseph Marsh, Ton Dijkstra, Kathy Conklin

Q J Exp Psychol (Hove)· August 2025

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Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins.
Mohamed Fawzy, Joseph A Marsh

PLoS Comput Biol· August 2025

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Reproductive success in Thoroughbred broodmares post large colon resection or colopexy.
Anja R Knudsen, Joseph S Marsh, Jannah L Pye

Vet Surg· July 2025

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Leveraging protein structural information to improve variant effect prediction.
Lukas Gerasimavicius, Sarah A Teichmann, Joseph A Marsh

Curr Opin Struct Biol· June 2025

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loss-of-function mutations cause microcephaly and short stature.
Aitana Verdu Schlie, Andrea Leitch, Maria Izabel Arismendi, Colin Stok, Andrea Castro Leal, Joseph A Marsh

Genes Dev· May 2025

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Guidelines for releasing a variant effect predictor.
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Joseph A Marsh

Genome Biol· April 2025

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Variant effect predictor correlation with functional assays is reflective of clinical classification performance.
Benjamin J Livesey, Joseph A Marsh

Genome Biol· April 2025

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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Gaofeng Zhu, Blaise Didry-Barca, Luis Seabra, Gillian I Rice, Carolina Uggenti, Joseph A Marsh

Lancet Neurol· March 2025

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Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Holly A Black, Sophie Marion de Proce, Jose L Campos, Alison Meynert, Mihail Halachev, Joseph A Marsh

Pediatr Pulmonol· December 2024

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Structural insight into the function of human peptidyl arginine deiminase 6.
Jack P C Williams, Stephane Mouilleron, Rolando Hernandez Trapero, M Teresa Bertran, Joseph A Marsh

Comput Struct Biotechnol J· December 2024

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Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes.
Diego Chillón-Pino, Mihaly Badonyi, Colin A Semple, Joseph A Marsh

Cell Rep· November 2024

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Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
T Michael Yates, Morad Ansari, Louise Thompson, Sarah E Hunt, Elena Cibrian Uhalte, Joseph A Marsh

Genome Med· November 2024

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ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma.
Yuting Lu, Jana Travnickova, Mihaly Badonyi, Florian Rambow, Andrea Coates, Joseph A Marsh

Cell Rep· November 2024

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Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes.
Mohamed Fawzy, Joseph A Marsh

Sci Rep· October 2024

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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Joseph A Marsh

J Exp Med· August 2024

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Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases.
Mihaly Badonyi, Joseph A Marsh

PLoS One· August 2024

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Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Joseph A Marsh

Mol Syst Biol· July 2024

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ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma.
Yuting Lu, Jana Travnickova, Mihaly Badonyi, Florian Rambow, Andrea Coates, Joseph A Marsh

Cell Rep· July 2024

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Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome.
Robin Kechiche, Clémence David, Joseph A Marsh, Géraldine Labouret, Marie-Louise Frémond

J Clin Immunol· April 2024

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Guidelines for releasing a variant effect predictor.
Benjamin J Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Joseph A Marsh

ArXiv· April 2024

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