Luca Stefanucci

Hinxton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.

Journal: Nature communications

Published: October 24, 2024

The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.

The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.

Journal: Blood advances

Published: July 10, 2024

SMIM1 absence is associated with reduced energy expenditure and excess weight.

SMIM1 absence is associated with reduced energy expenditure and excess weight.

Journal: Med (New York, N.Y.)

Published: August 07, 2023

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Journal: Blood

Published: March 01, 2023

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

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

Journal: Thrombosis and haemostasis

Published: June 28, 2022

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

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

Journal: Journal of thrombosis and haemostasis : JTH

Published: February 25, 2022

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

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

Journal: Clinical epigenetics

Published: November 16, 2021

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

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

Journal: Nature communications

Published: July 19, 2021

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.

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.

Journal: Transfusion

Published: November 18, 2020

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

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

Journal: PLoS genetics

Published: May 08, 2020

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Journal: Blood

Published: March 26, 2019

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

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

Journal: Genome medicine

Published: June 15, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026