Joseph A. Marsh - Publications, H-index & Citations

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Joseph A. Marsh

University of Edinburgh

47H-index

202Paper Count

8.7KCitation Count

Published Papers 79

Publication Date

Why variant effect predictors and multiplexed assays agree and disagree

Nature Communications

IF15.7

2026-08-27

OAAI

Benjamin J. Livesey; Joseph A. Marsh

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ER-liquid condensate contacts sequester FAM134B/C and RhoA to govern cell morphology

Molecular Cell

IF16.6

2026-08-17

OAAI

Natalia Jimenez-Moreno; Arianna Karageorgiou; Katie Winnington-Ingram; Jimi Wills; Chinmayi Pednekar; Melina Overhoff; Katherine Paine; Matthew Pearson; Lukas Gerasimavicius; Ann Wheeler; Natalia L. Kononenko; Joseph A. Marsh; Paul Verkade; Alex von Kriegsheim; Jon D. Lane; Simon Wilkinson

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Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms

Nature Communications

IF15.7

2026-06-16

OAAI

Giovanna Weykopf; Mihaly Badonyi; Elias T. Friman; Jasmine Minh Hang Nguyen; Alexis Ioannou; Benjamin J. Livesey; Audrey Coutts; Elizabeth F. Hird; Murray Wham; Chloe M. Stanton; Veronique Vitart; Jing Su; Lee Murphy; J. Kenneth Baillie; Mark D. Gorrell; Joseph A. Marsh; Wendy A. Bickmore; Simon C. Biddie

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Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling

Nature Genetics

IF29

2026-02-02

OAAI

Anagha Krishna; Alison Meynert; Karamjit Singh Dolt; Martijn Kelder; Agavni Mesropian; Ailith Ewing; Conny Brouwers; Jill WC Claassens; Margot M. Linssen; Shahida Sheraz; Gillian CA Taylor; Philippe Gautier; Anna Ferrer-Vaquer; Graeme Grimes; Hannes Becher; Ryan Silk; Albert Gris-Oliver; Roser Pinyol; Colin A. Semple; Timothy J. Kendall; Thomas Graham Bird; Anna-Katerina Hadjantonakis; Joseph A. Marsh; Josep M. Llovet; Peter Hohenstein; Andrew J. Wood; Derya D. Ozdemir

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A structure-guided approach to noncoding variant evaluation for transcription factor binding using AlphaFold 3

Nucleic Acids Research

IF13.1

2026-01-13

PREAI

Gerasimavicius, Lukas; Biddie, Simon C.; Marsh, Joseph A.

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Dominant-negative effects of Weaver syndrome-associated EZH2 variants

GENES & DEVELOPMENT

IF7.7

2025-11-01

PREAI

Deevy, Orla; Li, Jingjing; Monger, Craig; Matra, Francesca; Tuck, Ellen; Davies, Molly; Badonyi, Mihaly; Boyce, Maeve; Doyle, Emma J.; Hokamp, Karsten; Nimmo, Darragh; Rodighiero, Simona; Zhang, Qi; Davidovich, Chen; Marsh, Joseph A.; Pasini, Diego; Conway, Eric; Bracken, Adrian P.

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acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework

BIOINFORMATICS

IF5.4

2025-10-01

OAAI

Badonyi, Mihaly; Marsh, Joseph A.

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Leveraging protein structural information to improve variant effect prediction

CURRENT OPINION IN STRUCTURAL BIOLOGY

IF7

2025-06-01

OAAI

Gerasimavicius, Lukas; Teichmann, Sarah A.; Marsh, Joseph A.

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

GENOME BIOLOGY

IF9.4

2025-04-22

OAAI

Livesey, Benjamin J.; Marsh, Joseph A.

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CDK4 loss-of-function mutations cause microcephaly and short stature

GENES & DEVELOPMENT

IF7.7

2025-04-10

OAAI

Verdu Schlie, Aitana; Leitch, Andrea; Arismendi, Maria Izabel; Stok, Colin; Castro Leal, Andrea; Parry, David A.; Lerario, Antonio Marcondes; Harley, Margaret E.; Lucheze, Bruna; Carroll, Paula L.; Musialik, Kamila I.; Auer, Julia M. T.; Martin, Carol-Anne; Gerasimavicius, Lukas; Quigley, Alan J.; Correia-Deur, Joya Emilie de Menezes; Marsh, Joseph A.; Reijns, Martin A. M.; Lampe, Anne K.; Jackson, Andrew P.; Jorge, Alexander A. L.; Tamayo-Orrego, Lukas

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Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation

HUMAN MUTATION

IF3.7

2025-01-01

OAAI

Trapero, Rolando Hernandez; Badonyi, Mihaly; Gerasimavicius, Lukas; Marsh, Joseph A.

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ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma (vol 43,114406,2024)

CELL REPORTS

IF6.9

2024-11-01

OAAI

Lu, Yuting; Travnickova, Jana; Badonyi, Mihaly; Rambow, Florian; Coates, Andrea; Khan, Zaid; Marques, Jair; Murphy, Laura C.; Garcia-Martinez, Pablo; Marais, Richard; Louphrasitthiphol, Pakavarin; Chan, Alex H. Y.; Schofield, Christopher J.; von Kriegsheim, Alex; Marsh, Joseph A.; Pavet, Valeria; Sansom, Owen J.; Illingworth, Robert S.; Patton, E. Elizabeth

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

CELL REPORTS

IF6.9

2024-11-01

OAAI

Chillon-Pino, Diego; Badonyi, Mihaly; Semple, Colin A.; Marsh, Joseph A.

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

SCIENTIFIC REPORTS

IF3.9

2024-10-30

PREAI

Fawzy, Mohamed; Marsh, Joseph A.

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ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma

CELL REPORTS

IF6.9

2024-07-01

OAAI

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Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

JOURNAL OF EXPERIMENTAL MEDICINE

IF10.6

2024-06-13

OAAI

David, Clemence; Arango-Franco, Carlos A.; Badonyi, Mihaly; Fouchet, Julien; Rice, Gillian I.; Didry-Barca, Blaise; Maisonneuve, Lucie; Seabra, Luis; Kechiche, Robin; Masson, Cecile; Cobat, Aurelie; Abel, Laurent; Talouarn, Estelle; Beziat, Vivien; Deswarte, Caroline; Livingstone, Katie; Paul, Carle; Malik, Gulshan; Ross, Alison; Adam, Jane; Walsh, Jo; Kumar, Sathish; Bonnet, Damien; Bodemer, Christine; Bader-Meunier, Brigitte; Marsh, Joseph A.; Casanova, Jean-Laurent; Crow, Yanick J.; Manoury, Benedicte; Fremond, Marie-Louise; Bohlen, Jonathan; Lepelley, Alice

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

MOLECULAR SYSTEMS BIOLOGY

IF7.7

2024-06-07

OAAI

McDonnell, Alexander F.; Plech, Marcin; Livesey, Benjamin J.; Gerasimavicius, Lukas; Owen, Liusaidh J.; Hall, Hildegard Nikki; FitzPatrick, David R.; Marsh, Joseph A.; Kudla, Grzegorz

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-04-03

OAAI

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-02-15

PREAI

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse

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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2024-02-07

OAAI

David, Clemence; Badonyi, Mihaly; Kechiche, Robin; Insalaco, Antonella; Zecca, Marco; De Benedetti, Fabrizio; Orcesi, Simona; Chiapparini, Luisa; Comoli, Patrizia; Federici, Silvia; Gattorno, Marco; Ginevrino, Monia; Giorgio, Elisa; Matteo, Valentina; Moran-Alvarez, Patricia; Politano, Davide; Prencipe, Giusi; Sirchia, Fabio; Volpi, Stefano; Masson, Cecile; Rice, Gillian I.; Fremond, Marie-Louise; Lepelley, Alice; Marsh, Joseph A.; Crow, Yanick J.

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Research Directions