Concepedia

Author

Luca Stefanucci

University of CambridgeORCID

Also Known As

Katherine Bunclark, L. Stefanucci, Luca Stefanucci, Marianne Perera, Sarah Spencer, Stefanucci, Luca, Veronika Romashova

29

Publications

5.7K

Citations

14

H-Index

12

Concepts

All Affiliations

University of CambridgeNHS Blood and TransplantCambridge University Hospitals NHS Foundation TrustUniversity College LondonAddenbrooke's Hospital
LS

About

Luca Stefanucci is an author at University of Cambridge specializing in crispr, gene therapies, and gene expression.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

1

1

76

2

Natural Sciences

1

1

76

3

Cell Biology

1

1

76

4

Molecular Biology

1

1

76

5

Dna Replication

1

1

76

Luca Stefanucci

×

11

Publications

2.9K

Citations

11

H-Index

YearCitations

SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion

Petra Mlčochová, Steven A. Kemp, Mahesh Shanker Dhar,

Nature

2021

1.4K

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

Bo Meng, Adam Abdullahi, Isabella A.T.M. Ferreira,

Nature

2022

1.1K

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

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French,

Genome Medicine

2018

190

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

Ignazio Maggio, Luca Stefanucci, Josephine M. Janssen,

Nucleic Acids Research

2016

76

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam,

Blood

2019

40

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

Parsa Akbari, Dragana Vuckovic, Luca Stefanucci,

Nature Communications

2023

32

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

Belén de la Morena‐Barrio, Jonathan Stephens, María Eugenia de la Morena‐Barrio,

Thrombosis and Haemostasis

2022

21

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

Luca Stefanucci, Janine Collins, Matthew C. Sims,

Blood

2023

16

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

Denis Seyres, Alessandra Cabassi, John Lambourne,

Clinical Epigenetics

2022

14

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

Pierre‐Emmanuel Morange, Franck Peiretti, Lénaïck Gourhant,

PLoS Genetics

2021

13

Page 1