Search

publication

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Genetics in Medicine: Official Journal of the American College of Medical Genetics
Johannesen, K., Iqbal, S., Guazzi, M., Mohammadi, N., Pérez-Palma, E., Schaefer, E., et al.

7 December 2021

news

NIHR IBD BioResource celebrates Crohn’s and Colitis Awareness Week (1-7 Dec)

2 December 2021

IBD
General BioResource

study

Partcipants' data from UCL to be held locally, to help enable local research.

Lead: Nicholas Wood

Cross-cutting
Genomics and Rare Diseases

publication

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

Investigative Ophthalmology & Visual Science
Jurkute, N., D'Esposito, F., Robson, A., Pitceathly, R., Cordeiro, F., Raymond, F., et al.

1 December 2021

Michael and Tish&#039;s story with the COVID-19 BioResource

news

Michael and Tish's story with the COVID-19 BioResource

1 December 2021

COVID-19

publication

Comparison of depression and anxiety symptom networks in reporters and non-reporters of lifetime trauma in two samples of differing severity

Journal of Affective Disorders Reports
Peel, A., Armour, C., Buckman, J., Coleman, J., Curzons, S., Davies, M., et al.

1 December 2021

study

UK LLC COVID-19: Risk factors and prediction models for long COVID: analysis of longitudinal cohort studies with linked NHS data

Lead: Yinghui Wei

Infection
Public Health and Prevention
COVID

study

Predicting disease trajectory and response to treatment in primary open-angle glaucoma

Lead: Anthony Khawaja

Ophthalmology
Genomics and Rare Diseases

study

DICE IMPACT Questionnaire: Determinants, Incidence, and consequences of Corticosteroid Excess in IBD (IBD DICE IMPACT)

Lead: Tim Raine

Gastroenterology

news

NIHR BioResource proud to have supported HDR-UK Black Internship Programme

19 November 2021

General BioResource

publication

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

The New England Journal of Medicine
Smedley, D., Smith, K., Martin, A., Thomas, E., McDonagh, E., Cipriani, V., et al.

11 November 2021

news

NIHR BioResource research potential game-changer for diagnosis and treatment of rare diseases

11 November 2021

Rare disease

publication

Differences in Clinical Features and Comorbid Burden between HLA-C∗06:02 Carrier Groups in >9,000 People with Psoriasis

The Journal of Investigative Dermatology
Douroudis, K., Ramessur, R., Barbosa, I., Baudry, D., Duckworth, M., Angit, C., et al.

9 November 2021

publication

Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila

PLoS biology
Agrawal, N., Lawler, K., Davidson, C., Keogh, J., Legg, R., Barroso, I., et al.

8 November 2021

publication

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases

Nature Metabolism
Ritchie, S., Lambert, S., Arnold, M., Teo, S., Lim, S., Scepanovic, P., et al.

8 November 2021

news

Blood marker could help identify COVID-19 patients with no symptoms

2 November 2021

COVID-19

publication

Thrombomodulin in patients with mild to moderate bleeding tendency

Haemophilia: The Official Journal of the World Federation of Hemophilia
Mehic, D., Tolios, A., Hofer, S., Ay, C., Haslacher, H., Downes, K., et al.

1 November 2021

news

Eating disorders as likely to start in adulthood as childhood, report finds

29 October 2021

EDGI

study

Genome Medicine for inherited platelet disorders

Lead: Fabienne Ver Donck

Haematology
Genomics and Rare Diseases

study

DEfining MechanIsms Shared across mulTI-organ FIbrosis to prevent the development of long-term multi-morbidity (DEMISTIFI)

Lead: Gordon Moran

Gastroenterology

Search results