Catherine Abbott

Professor

University of Edinburgh

United Kingdom

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Professor Catherine Abbott is a faculty member at the University of Edinburgh, UK. Her research focuses on neurodevelopmental disorders, neuronal DNA damage, and epilepsy modeling. Recent articles include studies on SORCS2-related DNA double-strand breaks and functional modeling of genetic variants associated with X-linked intellectual disability.

Articles (5)

Year:

2021

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Collaborators (3)

Kathryn L Evans

University of Edinburgh

UNITED KINGDOM

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Emily Osterweil

Massachusetts Institute of Technology

UNITED STATES

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Simon Glerup

Aarhus University

DENMARK

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Catherine Abbott

Research Interests

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Articles (5)

Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

Modelling epilepsy in the mouse: challenges and solutions.

Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.

Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish.

Collaborators (3)

Kathryn L Evans

Emily Osterweil

Simon Glerup

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