Name
Role
GMC number
Telephone
My current role
I am the lead clinician for the Neurogenetics service for adult onset neurodegenerative conditions.
Previous history
I have been a Consultant at CUH since 2021. Before that, I was a Consultant in Clinical genetics with the Oxford Clinical genetics service, providing general adult and paediatric genetics services for Northamptonshire.
My research interests are centered around adult onset neurodegenerative disorders and my PhD and postdoctoral reserach with the University of Cambridsge were focused on Huntington's disease and Parkinson's disease.
Membership/accreditations
- Royal College of Physicians, London
- European Society Human Genetics
- British Society Genomic Medicine
- Clinical Genetics Society
Publications
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
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Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
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RERE deficiency contributes to the development of orofacial clefts in humans and mice
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Genetic and chemotherapeutic influences on germline hypermutation