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 220 publications
Publications 61-70 of 220
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Delineating the expanding phenotype associated with SCAPER gene mutation
Fasham, J., Arno, G., Lin, S., Xu, M., Carss, K., Hull, S., et al.
American Journal of Medical Genetics. Part A
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Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
Megy, K., Downes, K., Simeoni, I., Bury, L., Morales, J., Mapeta, R., et al.
Journal of thrombosis and haemostasis: JTH
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Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation
Jones, H., Morales-Briceño, H., Barwick, K., Lewis, J., Sanchis-Juan, A., Raymond, F., et al.
Movement Disorders: Official Journal of the Movement Disorder Society
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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
Sanchis-Juan, A., Bitsara, C., Low, K., Carss, K., French, C., Spasic-Boskovic, O., et al.
Frontiers in Genetics
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Lentaigne, C., Greene, D., Sivapalaratnam, S., Favier, R., Seyres, D., Thys, C., et al.
Blood
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De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family
De Kock, L., Thys, C., Downes, K., Duarte, D., Megy, K., Van Geet, C., et al.
Platelets
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Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency
Tuijnenburg, P., Lango Allen, H., de Bree, G., Savic, S., Jansen, M., Stockdale, C., et al.
Clinical Immunology (Orlando, Fla.)
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ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., et al.
Bioinformatics (Oxford, England)
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Germline selection shapes human mitochondrial DNA diversity
Wei, W., Tuna, S., Keogh, M., Smith, K., Aitman, T., Beales, P., et al.
Science (New York, N.Y.)
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Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders
Downes, K., Megy, K., Duarte, D., Vries, M., Gebhart, J., Hofer, S., et al.
Blood