Studies

Affymetrix high density array NIHR BioResource

Speciality area
Genomics and Rare Diseases

Study type
Samples and data

Researcher type
Academic

Research lead
Professor John Bradley

Hypertropic Cardiomyopathy (HCM)

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Hugh Watkins

Steroid Resistant Nephrotic Syndrome (SRNS)

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Ania Koziell

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

Cerebral Small Vessel Disease

Speciality area
Genomics and Rare Diseases, Stroke

Study type
Data only

Researcher type
Academic

Research lead
Dr 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