Martin A. McClatchey

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Active since

2020

Affiliations

University Hospital of Wales(Current)

Cardiff University

Martin A. McClatchey is an author at University Hospital of Wales specializing in molecular genetics, molecular neuroscience, and developmental epileptic encephalopathies.

ORCID

Publications per year

2020–2024

Publications

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Andrew E. Fry, Christopher Marra, Anna V. Derrick et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Brain malformations and seizures by impaired chaperonin function of TRiC

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan et al. · Science · 2024 · 23 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation

Martin A. McClatchey, Zachary D. du Toit, Rhys Vaughan et al. · European Journal of Medical Genetics · 2020 · 14 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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