Joseph A Marsh
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Explore the profile of Joseph A Marsh including associated specialties, affiliations and a list of published articles.
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107
Citations
3315
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Recent Articles
1.
Gerasimavicius L, Teichmann S, Marsh J
Curr Opin Struct Biol
. 2025 Feb;
92:103023.
PMID: 39987793
Despite massive sequencing efforts, understanding the difference between human pathogenic and benign variants remains a challenge. Computational variant effect predictors (VEPs) have emerged as essential tools for assessing the impact...
2.
Zhu G, Didry-Barca B, Seabra L, Rice G, Uggenti C, Touimy M, et al.
Lancet Neurol
. 2025 Feb;
24(3):218-229.
PMID: 39986310
Background: Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation of type I interferon (IFN) signalling, we identified a cohort of individuals heterozygous for mutations in...
3.
Lu Y, Travnickova J, Badonyi M, Rambow F, Coates A, Khan Z, et al.
Cell Rep
. 2024 Nov;
43(11):114927.
PMID: 39546399
No abstract available.
4.
Yates T, Ansari M, Thompson L, Hunt S, Uhalte E, Hobson R, et al.
Genome Med
. 2024 Nov;
16(1):127.
PMID: 39506859
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here,...
5.
Fawzy M, Marsh J
Sci Rep
. 2024 Oct;
14(1):26114.
PMID: 39478110
Variant effect predictors (VEPs) are computational tools developed to assess the impacts of genetic mutations, often in terms of likely pathogenicity, employing diverse algorithms and training data. Here, we investigate...
6.
Chillon-Pino D, Badonyi M, Semple C, Marsh J
Cell Rep
. 2024 Oct;
43(11):114905.
PMID: 39441719
Advances in protein structure determination and modeling allow us to study the structural context of human genetic variants on an unprecedented scale. Here, we analyze millions of cancer-associated missense mutations...
7.
Williams J, Mouilleron S, Trapero R, Bertran M, Marsh J, Walport L
Comput Struct Biotechnol J
. 2024 Sep;
23:3258-3269.
PMID: 39286527
Peptidyl arginine deiminase 6 (PADI6 or PAD6) is vital for early embryonic development in mice and humans, yet its function remains elusive. PADI6 is less conserved than other PADIs and...
8.
Badonyi M, Marsh J
PLoS One
. 2024 Aug;
19(8):e0307312.
PMID: 39172982
Many dominant genetic disorders result from protein-altering mutations, acting primarily through dominant-negative (DN), gain-of-function (GOF), and loss-of-function (LOF) mechanisms. Deciphering the mechanisms by which dominant diseases exert their effects is...
9.
Black H, de Proce S, Campos J, Meynert A, Halachev M, Marsh J, et al.
Pediatr Pulmonol
. 2024 Aug;
59(12):3322-3332.
PMID: 39115449
Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile...
10.
Lu Y, Travnickova J, Badonyi M, Rambow F, Coates A, Khan Z, et al.
Cell Rep
. 2024 Jul;
43(7):114406.
PMID: 38963759
Cancer cellular heterogeneity and therapy resistance arise substantially from metabolic and transcriptional adaptations, but how these are interconnected is poorly understood. Here, we show that, in melanoma, the cancer stem...