Marta Futema

St George's University Of London
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 58 publications

COPI Coatomer Regulates Several Steps of HDL Metabolism.

COPI Coatomer Regulates Several Steps of HDL Metabolism.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: August 13, 2026

Limitations of current risk stratification in FLNC truncating variant carriers: A family study with multiple sudden cardiac deaths.

Limitations of current risk stratification in FLNC truncating variant carriers: A family study with multiple sudden cardiac deaths.

Journal: Kardiologia polska

Published: July 06, 2026

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2026

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.

Journal: Atherosclerosis

Published: March 14, 2026

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.

Journal: Journal of medical genetics

Published: September 05, 2025

Brugada Syndrome: an exemplar for the genomic basis of sudden death.

Brugada Syndrome: an exemplar for the genomic basis of sudden death.

Journal: European journal of human genetics : EJHG

Published: August 27, 2025

Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.

Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.

Journal: European journal of human genetics : EJHG

Published: February 05, 2025

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Journal: Annals of human genetics

Published: January 27, 2025

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.

Journal: Scientific reports

Published: August 04, 2024

Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.

Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.

Journal: European journal of preventive cardiology

Published: July 11, 2024

Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.

Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.

Journal: European journal of preventive cardiology

Published: July 11, 2024

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Journal: medRxiv : the preprint server for health sciences

Published: January 10, 2024

Showing 1-12 of 58

Last Updated: 09/26/2026