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Luca Stefanucci
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SARS-CoV-2 B. 1.617. 2 Delta variant replication and immune evasion
P Mlcochova, SA Kemp, MS Dhar, G Papa, B Meng, IATM Ferreira, R Datir, ...
Nature 599 (7883), 114-119, 2021
12932021
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
9962021
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
7262021
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
3082021
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
1692018
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
1032021
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
892016
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
402019
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
322022
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
20*2022
The, C.-NBC-C., The Genotype to Phenotype Japan Consortium, m. & Ecuador, CC Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity
B Meng, A Abdullahi, I Ferreira, N Goonawardane, A Saito, I Kimura, ...
Nature 10, 2022
152022
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
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
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
102022
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
92023
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
82023
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
42022
USP18 modulates lupus risk via negative regulation of interferon response
K Freimann, A Brümmer, R Warmerdam, TS Rupall, ...
medRxiv, 2024
12024
The common, VTE-protective, G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding
MC Sims, M Gierula, JC Stephens, A Tokolyi, L Stefanucci, E Persyn, ...
Blood Advances, 2024
2024
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
K Freimann, A Brümmer, R Warmerdam, TS Rupall, ...
medRxiv, 2024.07. 15.24310442, 2024
2024
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