Showing the latest 489 publications
Publications 271-280 of 489
-
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription
Marenne, G., Hendricks, A., Perdikari, A., Bounds, R., Payne, F., Keogh, J., et al.
Cell Metabolism
-
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing
Smith, P., Whitworth, J., West, H., Cook, J., Gardiner, C., Lim, D., et al.
Genes, Chromosomes & Cancer
-
Screening of healthcare workers for SARS-CoV-2 highlights the role of asymptomatic carriage in COVID-19 transmission
Rivett, L., Sridhar, S., Sparkes, D., Routledge, M., Jones, N., Forrest, S., et al.
eLife
-
Resolving mechanisms of immune-mediated disease in primary CD4 T cells
Bourges, C., Groff, A., Burren, O., Gerhardinger, C., Mattioli, K., Hutchinson, A., et al.
EMBO molecular medicine
-
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran, J., Lango Allen, H., Burren, O., Rae, W., Greene, D., Staples, E., et al.
Nature
-
Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome
Rhodes, C., Otero-Núñez, P., Wharton, J., Swietlik, E., Kariotis, S., Harbaum, L., et al.
American Journal of Respiratory and Critical Care Medicine
-
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis-Juan, A., Hasenahuer, M., Baker, J., McTague, A., Barwick, K., Kurian, M., et al.
Molecular Genetics & Genomic Medicine
-
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
Staples, E., Simeoni, I., Stephens, J., Allen, H., Wright, P., et al.
Clinical Immunology (Orlando, Fla.)
-
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
Cipriani, V., Pontikos, N., Arno, G., Sergouniotis, P., Lenassi, E., Thawong, P., et al.
Genes
-
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., et al.
The Journal of Allergy and Clinical Immunology