Showing the latest 461 publications
Publications 121-130 of 461
-
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations
Rae, W., Sowerby, J., Verhoeven, D., Youssef, M., Kotagiri, P., Savinykh, N., et al.
Science Immunology
-
Phenotype-aware prioritisation of rare Mendelian disease variants
Kelly, C., Szabo, A., Pontikos, N., Arno, G., Robinson, P., Jacobsen, J., et al.
Trends in genetics: TIG
-
SARS-CoV-2 spike N-terminal domain modulates TMPRSS2-dependent viral entry and fusogenicity
Meng, B., Datir, R., Choi, J., Bradley, J., Smith, K., et al.
Cell Reports
-
Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans
Lemmelä, S., Wigmore, E., Benner, C., Havulinna, A., Ong, R., Kempf, T., et al.
eLife
-
Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK
Young, K., Purves, K., Hübel, C., Davies, M., Thompson, K., Bristow, S., et al.
Psychological Medicine
-
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Reid, K., Spaull, R., Salian, S., Barwick, K., Meyer, E., Zhen, J., et al.
Movement Disorders: Official Journal of the Movement Disorder Society
-
Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies
Collier, D., De Marco, A., Ferreira, I., Meng, B., Datir, R., Walls, A., et al.
Nature
-
Author Correction: SARS-CoV-2 evolution during treatment of chronic infection
Kemp, S., Collier, D., Datir, R., Ferreira, I., Gayed, S., Jahun, A., et al.
Nature
-
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
Prapa, M., Lago-Docampo, M., Swietlik, E., Montani, D., Eyries, M., Humbert, M., et al.
American Journal of Respiratory and Critical Care Medicine
-
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
French, C., Dolling, H., Mégy, K., Sanchis-Juan, A., Kumar, A., Delon, I., et al.
HGG advances