SARS-CoV-2 evolution during treatment of chronic infection SA Kemp, DA Collier, RP Datir, IATM Ferreira, S Gayed, A Jahun, ... Nature 592 (7853), 277-282, 2021 | 920 | 2021 |
Sensitivity of SARS-CoV-2 B. 1.1. 7 to mRNA vaccine-elicited antibodies DA Collier, A De Marco, IATM Ferreira, B Meng, RP Datir, AC Walls, ... Nature 593 (7857), 136-141, 2021 | 697 | 2021 |
Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2 DA Collier, IATM Ferreira, P Kotagiri, RP Datir, EY Lim, E Touizer, B Meng, ... Nature 596 (7872), 417-422, 2021 | 624 | 2021 |
Longitudinal analysis reveals that delayed bystander CD8+ T cell activation and early immune pathology distinguish severe COVID-19 from mild disease L Bergamaschi, F Mescia, L Turner, AL Hanson, P Kotagiri, BJ Dunmore, ... Immunity 54 (6), 1257-1275. e8, 2021 | 267 | 2021 |
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ... Genome medicine 10, 1-10, 2018 | 151 | 2018 |
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations I Maggio, L Stefanucci, JM Janssen, J Liu, X Chen, V Mouly, ... Nucleic acids research 44 (3), 1449-1470, 2016 | 85 | 2016 |
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia C Lentaigne, D Greene, S Sivapalaratnam, R Favier, D Seyres, C Thys, ... Blood, The Journal of the American Society of Hematology 134 (23), 2070-2081, 2019 | 36 | 2019 |
SARS-CoV-2 Omicron spike mediated immune escape and tropism shift B Meng, IATM Ferreira, A Abdullahi, N Goonawardane, A Saito, I Kimura, ... BioRxiv, 2021.12. 17.473248, 2021 | 35 | 2021 |
SARS-CoV-2 spike N-terminal domain modulates TMPRSS2-dependent viral entry and fusogenicity B Meng, R Datir, J Choi, S Baker, G Dougan, C Hess, N Kingston, ... Cell Reports 40 (7), 2022 | 26 | 2022 |
Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency B De La Morena-Barrio, J Stephens, ME de la Morena-Barrio, ... Thrombosis and haemostasis 122 (08), 1369-1378, 2022 | 17* | 2022 |
Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures … A Meli, M McAndrew, A Frary, K Rehnstrom, CJ Stevens‐Hernandez, ... Transfusion 61 (8), 2439-2449, 2021 | 11 | 2021 |
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes D Seyres, A Cabassi, JJ Lambourne, F Burden, S Farrow, H McKinney, ... Clinical epigenetics 14 (1), 39, 2022 | 8 | 2022 |
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology P Akbari, D Vuckovic, L Stefanucci, T Jiang, K Kundu, R Kreuzhuber, ... Nature communications 14 (1), 5023, 2023 | 6 | 2023 |
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant PE Morange, F Peiretti, L Gourhant, C Proust, O Soukarieh, ... PLoS Genetics 17 (1), e1009284, 2021 | 6 | 2021 |
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants L Stefanucci, J Collins, MC Sims, I Barrio-Hernandez, L Sun, OS Burren, ... Blood 142 (24), 2055-2068, 2023 | 3 | 2023 |
Non‐coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes L Stefanucci, M Frontini Journal of Thrombosis and Haemostasis 20 (8), 1759-1765, 2022 | 3 | 2022 |
SARS-CoV-2 Omicron spike mediated immune escape and tropism shift (preprint) B Meng, I Ferreira, A Abdullahi, N Goonawardane, A Saito, I Kimura, ... | 2 | 2021 |
OC 27.4 ZFPM2 Regulates Megakaryocyte Proliferation, Differentiation and Granulogenesis and Influences Thrombotic Risk K Burley, A Knapp-Wilson, S Westbury, P Akbari, L Stefanucci, W Astle, ... Research and Practice in Thrombosis and Haemostasis 7, 2023 | | 2023 |
Loss of function variant in SMIM1 is associated with reduced energy expenditure and weight gain M Frontini, L Stefanucci, C Moslemi, A Tome, S Virtue, N Gleadall, ... | | 2022 |
Investigating the role of rare genetic variants in the aetiology of haemostasis disorders L Stefanucci | | 2021 |