Publications
NIHR BioResource staff, our partners and our collaborators work on a remarkable range of studies in human disease. Reviewed and refereed scientific publications are a vital part of our work: each year we are part of 30—40 published studies.
Showing the latest 190 publications
Publications 21-30 of 190
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, K., Lauerer, R., Bahr, J., Souza, I., Myers, C., Uysal, B., et al.
American Journal of Human Genetics
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Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy
Burley, K., Whyte, C., Westbury, S., Walker, M., Stirrups, K., Turro, E., et al.
Blood
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Capturing the systemic immune signature of a norovirus infection: an n-of-1 case study within a clinical trial
Cutler, A., Oliveira, J., Ferreira, R., Challis, B., Walker, N., Caddy, S., et al.
Wellcome Open Research
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, C., Heidler, J., Dibley, M., Kremer, L., Taylor, L., Fratter, C., et al.
American Journal of Human Genetics
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Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
Kulkarni, N., Lloyd, I., Ashworth, J., Biswas, S., Black, G., Clayton-Smith, J., et al.
Clinical Dysmorphology
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, P., Lango Allen, H., Burns, S., Greene, D., Jansen, M., Staples, E., et al.
The Journal of Allergy and Clinical Immunology
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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Ba-Abbad, R., Leys, M., Wang, X., Chakarova, C., Waseem, N., Carss, K., et al.
Investigative Ophthalmology & Visual Science
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Opioid Antagonists and the A118G Polymorphism in the μ-Opioid Receptor Gene: Effects of GSK1521498 and Naltrexone in Healthy Drinkers Stratified by OPRM1 Genotype
Ziauddeen, H., Nestor, L., Subramaniam, N., Dodds, C., Nathan, P., Miller, S., et al.
Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
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The IL23R A/Gln381 allele promotes IL-23 unresponsiveness in human memory T-helper 17 cells and impairs Th17 responses in psoriasis patients
Di Meglio, P., Villanova, F., Napolitano, L., Tosi, I., Terranova Barberio, M., Mak, R., et al.
The Journal of Investigative Dermatology
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Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity
Ferreira, R., Simons, H., Thompson, W., Rainbow, D., Yang, X., Cutler, A., et al.
Journal of Autoimmunity