Search

publication

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Journal of the American Society of Nephrology: JASN
Levine, A., Chan, M., Sadeghi-Alavijeh, O., Wong, E., Cook, H., Ashford, S., et al.

9 January 2020

publication

Population-wide copy number variation calling using variant call format files from 6,898 individuals

Genetic Epidemiology
Png, G., Suveges, D., Park, Y., Walter, K., Kundu, K., Ntalla, I., et al.

1 January 2020

publication

HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease

Gastroenterology
Sazonovs, A., Kennedy, N., Moutsianas, L., Heap, G., Rice, D., Reppell, M., et al.

1 January 2020

study

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

Lead: Mark Caulfield

Genomics and Rare Diseases

publication

Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income

Nature Communications
Hill, W., Davies, N., Ritchie, S., Skene, N., Bryois, J., Bell, S., et al.

16 December 2019

publication

The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety

Behaviour Research and Therapy
Davies, M., Kalsi, G., Armour, C., Jones, I., McIntosh, A., Smith, D., et al.

1 December 2019

study

Genetic architecture of blood cell cytometry phenotypes

Lead: Mr Parsa Akbari

Genomics and Rare Diseases
Haematology

publication

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

Neurology
Tan, R., Traylor, M., Megy, K., Duarte, D., Deevi, S., Shamardina, O., et al.

26 November 2019

publication

Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment

International Journal of Laboratory Hematology
MacDonald, S., Wright, A., Beuche, F., Downes, K., Besser, M., Symington, E., et al.

20 November 2019

study

Genotype-phenotype relationships in patients with idiopathic pulmonary arterial hypertension / investigating variants in other rare forms of pulmonary hypertension

Lead: Dr Allan Lawrie

Cardiovascular Disease
Genomics and Rare Diseases

publication

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

The European Respiratory Journal
Ulrich, A., Wharton, J., Thayer, T., Swietlik, E., Assad, T., Desai, A., et al.

19 November 2019

publication

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

American Journal of Respiratory and Critical Care Medicine
Hodgson, J., Swietlik, E., Salmon, R., Hadinnapola, C., Nikolic, I., Wharton, J., et al.

29 October 2019

study

Steroid Resistant Nephrotic Syndrome (access to ‘Chromoscope’ data platform)

Lead: Dr Amy Osborne

Kidney Disorders
Genomics and Rare Diseases

study

BRIDGE Bleeding and Platelet Disorders study

Lead: Ernest Turro

Haematology
Genomics and Rare Diseases

study

Blood platelet disorders (access to &amp

Lead: Dr Floor Heubel-Moenen

Genomics and Rare Diseases

news

NAFLD: partnership to study liver disease

3 October 2019

NAFLD

publication

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis

Clinical Dysmorphology
Kulkarni, N., Lloyd, I., Ashworth, J., Biswas, S., Black, G., Clayton-Smith, J.

1 October 2019

publication

Longer-term efficiency and safety of increasing the frequency of whole blood donation (INTERVAL): extension study of a randomised trial of 20 757 blood donors

The Lancet. Haematology
Kaptoge, S., Angelantonio, E., Moore, C., Walker, M., Armitage, J., Ouwehand, W., et al.

1 October 2019

publication

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Human Mutation
Bury, L., Megy, K., Stephens, J., Grassi, L., Greene, D., Gleadall, N., et al.

28 September 2019

news

BioResource and improved diagnosis in children

19 September 2019

General BioResource

Search results