Novelli, Antonio

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., et al. (2023) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAsthma and respiratory diseases

Cited by 125

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., et al. (2021) · Human Mutation

Genomics and Rare DiseasesCongenital heart defects research

Cited by 25