List of works - Marta Futema

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

scientific article published on 18 April 2013

Applicability of the low-density lipoprotein cholesterol gene score in a South European population

article

Case of contrast media regurgitated into the pancreatic duct and acini

scientific article

Child-Parent Familial Hypercholesterolemia Screening in Primary Care

article published in 2017

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

scientific article published on 15 November 2019

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

scientific article published on 12 May 2020

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland

article

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article published on 12 May 2015

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

scientific article published on 08 October 2019

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

scientific article published on 25 May 2018

Genetic Architecture of Familial Hypercholesterolaemia

scientific article

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

scientific article published on 13 May 2017

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis

scientific article published on 20 May 2020

Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia

scientific article

Lipoprotein(a) level is higher inpatients with familial hypercholesterolaemia than in normal healthy subjects, contribution of variants in the LPA gene

article

Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

scientific article

Molecular genetics of familial hypercholesterolemia in Israel-revisited

scientific article

Mutation detection in Croatian patients with familial hypercholesterolemia

scientific article published on 6 November 2012

Polygenic Hypercholesterolemia and Cardiovascular Disease Risk

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

scientific article published on 25 September 2019

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy

scientific article published on 06 December 2019

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

scientific article published on 20 November 2014

SEnsitivity and specificity of biochemical screening for familial hypercholesterolaemia in childhood: avon longitudinal study of parents and children (ALSPAC).

scientific article published on 12 August 2017

Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)

scientific article

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population

scientific article published on 6 December 2017

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

scientific article

The UK10K project identifies rare variants in health and disease

scientific article

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

scientific article published on 01 March 2020

The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes

scientific article published on August 2014

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

scientific article published on 10 November 2015

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy

scientific article published on 05 December 2020

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

scientific article published on 22 February 2013

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

scientific article (publication date: October 2012)

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

scientific article published on 25 December 2015

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

scientific article

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

scientific article

List of works by Marta Futema

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

Applicability of the low-density lipoprotein cholesterol gene score in a South European population

Case of contrast media regurgitated into the pancreatic duct and acini

Child-Parent Familial Hypercholesterolemia Screening in Primary Care

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

Genetic Architecture of Familial Hypercholesterolaemia

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis

Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia

Lipoprotein(a) level is higher inpatients with familial hypercholesterolaemia than in normal healthy subjects, contribution of variants in the LPA gene

Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

Molecular genetics of familial hypercholesterolemia in Israel-revisited

Mutation detection in Croatian patients with familial hypercholesterolemia

Polygenic Hypercholesterolemia and Cardiovascular Disease Risk

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

SEnsitivity and specificity of biochemical screening for familial hypercholesterolaemia in childhood: avon longitudinal study of parents and children (ALSPAC).

Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)

The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

The UK10K project identifies rare variants in health and disease

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?