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publication

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

Cell
Klaauw, A., Croizier, S., Oliveira, E., Stadler, L., Park, S., Kong, Y., et al.

7 February 2019

study

IBD-Boost Survey: fatigue, pain and urgency in IBD

Lead: Professor Christine Norton

Gastroenterology

study

NOVID – Role of DNA non-coding variants in von Willebrand disease

Lead: Professor Mike Laffan

Genomics and Rare Diseases
Haematology

study

Genotype and Phenotype in Inherited Neurodegenerative Diseases

Lead: Professor Patrick Chinnery

Neurological Disorders

study

NBR31

study

Genes and Cognition

Lead: Prof. Patrick Chinnery

Neurological Disorders
Ageing

study

Assessing whole genome sequencing as a diagnostic test for mitochondrial disease.

Lead: Professor Patrick Chinnery

Genomics and Rare Diseases

study

Crohn’s Anal Fistula Quality of Life Scale (CAF-QoL)

Lead: Professor Ailsa Hart

Gastroenterology

study

Molecular investigation of genetic factors in cardiovascular and immune-related traits and diseases using a bioresource of healthy volunteers (GENBIO)

Lead: Dr Dirk Paul

Cardiovascular Disease

study

Generation of pluripotent stem cell lines to test novel compounds for the treatment of disease

Lead: Dr David Bunton

Ophthalmology

study

Investigation of genetic susceptibility markers to arthritic conditions and how they contribute to disease

Lead: Dr Annie Yarwood

Musculoskeletal Disorders

study

The genetic correlates of cognitive flexibility and their links to ideological thinking

Lead: Prof. Trevor Robbins

Neurological Disorders

publication

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Genetics in Medicine: Official Journal of the American College of Medical Genetics
Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., Zaeytijd, J., et al.

23 January 2019

study

CMV infection in inflammatory bowel disease

Lead: Prof. Holm Uhlig

Gastroenterology
Infection

study

Mechanism linking NOD2 with MHC class I antigen presentation

Lead: Professor Alison Simmons

Gastroenterology

study

Investigating the genetic susceptibility to anti-drug antibody formation in patients with Inflammatory Bowel Disease (PANTS)

Lead: Dr Tariq Ahmed

Gastroenterology
Genomics and Rare Diseases

study

Identifying the genetic causes and factors involved in causing orofacial granulomatosis (oral crohn&amp

Lead: Dr Natalie Prescott

Genomics and Rare Diseases
Gastroenterology

study

Impute - 50K imputation at Sanger

Lead: Dr Jyoti Khadake

Cross-cutting
Genomics and Rare Diseases

publication

The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

The European Respiratory Journal
Newnham, M., South, K., Bleda, M., Auger, W., Barberà, J., Bogaard, H., et al.

17 January 2019

study

Identifying the environmental, genetic and gut microbiota factors that predispose patients with Inflammatory Bowel Disease to flare ups, and which and influence disease outcomes (The PREdiCCt (The PRognostic effect of Environmental factors in

Lead: Dr Charlie Lees

Gastroenterology

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