By health condition
By demographic
Each summary is provided by the external research team. The views expressed may not reflect those of the NIHR BioResource.
We’ve also created a few study collections:
Studies 361-369 of 429
To evaluate the
Speciality areaGenomics and Rare Diseases, Cardiovascular Disease
Study typeData only
Researcher typeAcademic
Research leadDr Rachel Ong
CGG trinucleotide short-tandem repeats in unexplained intellectual disability
Speciality areaGenomics and Rare Diseases, Neurological Disorders
Research leadDr Dale Annear
To access and provide NIHR BioResource Rare Disease Genomes across all eligible disorders within the Genomics England Research Environment as an anonymised dataset alongside the 100,000 Genomes Project main programme data
Speciality areaGenomics and Rare Diseases
Research leadMark Caulfield
Genetic architecture of blood cell cytometry phenotypes
Speciality areaGenomics and Rare Diseases, Haematology
Research leadMr Parsa Akbari
Genotype-phenotype relationships in patients with idiopathic pulmonary arterial hypertension / investigating variants in other rare forms of pulmonary hypertension
Speciality areaCardiovascular Disease, Genomics and Rare Diseases
Research leadDr Allan Lawrie
Steroid Resistant Nephrotic Syndrome (access to ‘Chromoscope’ data platform)
Speciality areaKidney Disorders, Genomics and Rare Diseases
Research leadDr Amy Osborne
BRIDGE Bleeding and Platelet Disorders study
Speciality areaHaematology, Genomics and Rare Diseases
Research leadErnest Turro
Blood platelet disorders (access to 'Chromoscope' data platform)
Research leadDr Floor Heubel-Moenen
Progressing from Genetics to Function and Clinical Translation in Crohn’s Disease & Ulcerative Colitis
Speciality areaGastroenterology, Genomics and Rare Diseases
Research leadCarl Anderson
