Luca Stefanucci

发表

Non‐coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes

M. Frontini, L. Stefanucci, Luca Stefanucci, 2022, Journal of thrombosis and haemostasis : JTH.

Loss of function variant in SMIM1 is associated with reduced energy expenditure and weight gain

William J. Astle, Nicholas S. Gleadall, H. Ullum, 2022 .

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2020, bioRxiv.

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2022, Thrombosis and haemostasis.

Long-Read Sequencing Identi ﬁ es the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin De ﬁ ciency

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2022 .

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Eleanor, Joy, Josh, 2022 .

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Andrew R. Webster, Topun Austin, Kathleen Stirrups, 2018, Genome Medicine.

Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2

Frances E. Muldoon, Sarah E. Jackson, Kenneth G. C. Smith, 2021, Nature.

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes

Christoph Bock, Maik Pietzner, Albert Koulman, 2020, bioRxiv.

Extreme phenotypes define epigenetic and metabolic signatures in cardiometabolic syndrome.

Paul D. W. Kirk, Matthew C. Sims, K. Downes, 2020 .

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Randy J Read, Karyn Megy, Suthesh Sivapalaratnam, 2019, Blood.

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity

Frances E. Muldoon, Kenneth G. C. Smith, Eleanor F. Dewhurst, 2022, Nature.

SARS-CoV-2 evolution during treatment of chronic infection

Graham W. Taylor, William L. Hamilton, Joshua B. Singer, 2021, Nature.

Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: A case control and allele frequency study

William J. Astle, A. Meli, R. Cardigan, 2021, Transfusion.

SARS-CoV-2 evolution during treatment of chronic infection

Graham W. Taylor, William L. Hamilton, Joshua B. Singer, 2021, Nature.

Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations

V. Mouly, M. Gonçalves, L. Stefanucci, 2016, Nucleic acids research.

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant

D. Trégouët, P. Morange, C. Proust, 2020, medRxiv.

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Graham W. Taylor, William L. Hamilton, Joshua B. Singer, 2021, Nature.

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

J. Danesh, Klaudia Walter, W. Ouwehand, 2023, Nature communications.