The role of programmed axon death in neurological disease
Breast cancer Cancer of unknown primary Childhood solid cancers Colorectal cancer Glioma Haematological malignancies Head and neck cancer Lung cancer Melanoma Neuroendocrine tumours Ovarian and endometrial cancer Pan cancer (across cancers) Prostate cancer Renal (kidney) cell carcinoma Sarcoma Testicular cancer Upper gastrointestinal cancer
Project TitleProject Lead Project Date
Research projects for Paediatrics
The Genetic Causes of Cerebral Visual Impairment
Investigating the genetics of Ehlers-Danlos Syndromes (EDS)
Gene and Variant Discovery in inherited eye diseases
Discovery and validation of novel inherited neurodevelopmental disease genes.
Expanding the genotype and phenotype of disorders associated with manganese dyshomeostasis
A Meta-analysis of GEL and DDD Developmental Disorders
Searching for novel genes in neurodevelopmental disorders
Identifying additional genomic variants within the promoter region of the TXNL4A gene associated with the spliceosomal developmental disorder Burn-McKeown syndrome.
Effects of endogamy versus consanguinity on risk of rare disorders
Investigation of variants incidence and pathological correlation to FSGS and proteinuric kidney diseases
Contribution of Structural and Copy number variants to Rare Disease Diagnoses
Extending ultra-rare diagnoses from the Welsh 100,000 genome cohort
Novel genes involved in optic fissure closure
Are YY1 interactors associated with neurodevelopmental disorders?
Characterizing the phenotype associated with HDAC2 variants
SATB1 related disorder
Genetic Analysis of Childhood and Adult Ataxias
Solving neuromuscular disorders with new bioinformatic approaches