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publication

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sangermano, R., Garanto, A., Khan, M., Runhart, E., Bauwens, M., Bax, N., et al.

15 January 2019

study

Discovery of metabolite biomarkers in rare diseases

Lead: Dr Leonardo Bottolo

Genomics and Rare Diseases

study

Genome-wide association studies of circulating blood metabolites

Lead: Prof. Tim Spector

Haematology

study

The Genetic Environmental Microbial (GEM) Project - identifying environmental and microbial risk factors for Crohn’s disease

Lead: Dr Miles Parkes

Genomics and Rare Diseases
Gastroenterology

study

Investigating short-term memory using the Oxford Memory Task (OMT) app

Lead: Professor Masud Husain

Ageing
Neurological Disorders

study

Is a predisposition to inflammatory bowel disease related to the expression of specific genes which affect immune cells?

Lead: Professor Mark Travis

Gastroenterology

study

Investigating the systems used to determine blood groups in the UK and validating a new system to ascertain human blood groups to a clinical standard

Lead: Professor Willem Ouwehand

Haematology

study

IBD BioResource – INCEPTION cohort

Lead: Dr Miles Parkes

Gastroenterology

study

Investigating changes in memory and attention associated with ageing

Lead: Professor Anne Nobre

Neurological Disorders
Ageing

study

Cholesterol efflux pathways in monocytes and the genetic risk of atherosclerosis

Lead: Professor Martin Bennett

Cardiovascular Disease

study

Mapping metabolites to their key biochemical pathways

Lead: Professor John Bradley

Genomics and Rare Diseases

study

Affymetrix high density array NIHR BioResource

Lead: Professor John Bradley

Genomics and Rare Diseases

publication

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Haematologica
Oorschot, R., Marneth, A., Bergevoet, S., Bergen, M., Peerlinck, K., Lentaigne, C., et al.

20 December 2018

study

Hypertropic Cardiomyopathy (HCM)

Lead: Hugh Watkins

Cardiovascular Disease
Genomics and Rare Diseases

publication

High-throughput elucidation of thrombus formation reveals sources of platelet function variability

Haematologica
Geffen, J., Brouns, S., Batista, J., McKinney, H., Kempster, C., Nagy, M., et al.

13 December 2018

study

Steroid Resistant Nephrotic Syndrome (SRNS)

Lead: Ania Koziell

Kidney Disorders
Genomics and Rare Diseases

publication

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Genetics in Medicine: Official Journal of the American College of Medical Genetics
Thomson, K., Ormondroyd, E., Harper, A., Dent, T., McGuire, K., Baksi, J., et al.

11 December 2018

publication

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome Medicine
Sanchis-Juan, A., Stephens, J., French, C., Gleadall, N., Mégy, K., Penkett, C., et al.

7 December 2018

publication

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

Ophthalmic Genetics
Borooah, S., Stanton, C., Marsh, J., Carss, K., Waseem, N., Biswas, P., et al.

1 December 2018

publication

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Haematologica
Bariana, T., Labarque, V., Heremans, J., Thys, C., Reys, M., Greene, D., et al.

22 November 2018

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