Studies

The role of mitochondrial DNA variants in common disease

Speciality area
Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Patrick Chinnery

Identifying the molecular basis of congenital anaemias presenting in isolation or as bone marrow failure due to multilineage involvement (stem cell disorders)

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Data only

Researcher type
Academic

Research lead
Christian Babbs

BRIDGE - Cerebral Small Vessel Disease

Speciality area
Dementias and Neurodegeneration, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Stefan Graf

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Speciality area
Cancer, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
James Whitworth