Department of Medical Genetics
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On the neurobiology of apathy and depression in cerebral small vessel disease
Cerebral small vessel disease (SVD) is a cerebrovascular pathology that affects the small vessels of the brain, resulting in heterogeneous brain tissue changes. These can lead to neuropsychiatric symptoms such as apathy, ... -
Elucidating the constitutional genetic basis of multiple primary tumours
(2019-10-26)Cancer predisposition syndromes are responsible for a significant minority of neoplasm occurrences and beget opportunities to mitigate the associated risks with clinical intervention. They are caused by constitutional ... -
A study of succinate dehydrogenase deficient tumourigenesis: From functional assessment of variant pathogenicity to the discovery of new disease biomarkers
(2019-07-20)A loss of function of the citric acid cycle enzyme complex succinate dehydrogenase (SDH) is associated with a predisposition to a spectrum of tumourigenesis including phaeochromocytoma, paraganglioma (1) (PPGL), gastrointestinal ... -
The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition
(2019-01-01)The development of whole exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition ...
