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Luca Stefanucci
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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
9202021
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
6972021
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
6242021
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
2672021
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
1512018
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
852016
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
362019
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
352021
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
262022
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
112021
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
82022
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
62023
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
62021
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
32023
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
32022
SARS-CoV-2 Omicron spike mediated immune escape and tropism shift (preprint)
B Meng, I Ferreira, A Abdullahi, N Goonawardane, A Saito, I Kimura, ...
22021
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
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