Publications by authors named "Steve Humphries"

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Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Bethany Stafford-Smith, Morgan Daniel, Michelle Peter, Jana Gurasashvili, Rashida Baptiste, Steve E Humphries

Genet Med· December 2025

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Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.
Steve Eric Humphries, Marta Futema

Ann Hum Genet· September 2025

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Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).
Jan Kafol, Beatriz Miranda, Rok Sikonja, Jaka Sikonja, Albert Wiegman, Steve E Humphries

Eur J Prev Cardiol· June 2025

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Challenges and opportunities for identifying people with familial hypercholesterolemia in the UK: Evidence from the National FH PASS database.
Edward Cox, Rita Faria, Pedro Saramago, Kate Haralambos, Melanie Watson, Steve E Humphries

J Clin Lipidol· April 2025

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Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.
Amany Elshorbagy, Antonio J Vallejo-Vaz, Fotios Barkas, Alexander R M Lyons, Christophe A T Stevens, Steve E Humphries

Eur Heart J· March 2025

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Efficacy and safety of statins, ezetimibe and statins-ezetimibe therapies for children and adolescents with heterozygous familial hypercholesterolaemia: Systematic review, pairwise and network meta-analyses of randomised controlled trials.
Alexis Llewellyn, Mark Simmonds, David Marshall, Melissa Harden, Beth Woods, Steve E Humphries

Atherosclerosis· February 2025

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Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?
Uma Ramaswami, Lorraine Priestley-Barnham, Steve E Humphries

Curr Opin Lipidol· December 2024

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Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.
Martin Bird, Antoine Rimbert, Alan M Pittman, Steve E Humphries, Marta Futema

Eur J Prev Cardiol· November 2024

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Prediction of individual lifetime cardiovascular risk and potential treatment benefit: development and recalibration of the LIFE-CVD2 model to four European risk regions.
Steven H J Hageman, Stephen Kaptoge, Tamar I de Vries, Wentian Lu, Janet M Kist, Steve E Humphries

Eur J Prev Cardiol· October 2024

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Influence of Common Gene Variants on Lipid Levels and Risk of Coronary Heart Disease in Afro-Caribbeans.
Laurent Larifla, Valerie Bassien-Capsa, Fritz-Line Velayoudom, Vaneva Chingan-Martino, Yaovi Afassinou, Steve E Humphries

Int J Mol Sci· October 2024

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Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Steve E Humphries, Uma Ramaswami, Neil Hopper

Curr Atheroscler Rep· December 2023

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Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Jasmine Gratton, Steve E Humphries, Amand Floriaan Schmidt, Riyaz S Patel, Reecha Sofat

BMJ Public Health· November 2023

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Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Nadeem Qureshi, Bethan Woods, Rita Neves de Faria, Pedro Saramago Goncalves, Edward Cox, Steve E Humphries

Health Technol Assess· October 2023

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Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.
Jasmine Gratton, Steve E Humphries, Marta Futema

Arterioscler Thromb Vasc Biol· September 2023

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Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study.
Buamina Maitusong, Federica Laguzzi, Rona J Strawbridge, Damiano Baldassarre, Fabrizio Veglia, Steve E Humphries

Circ Genom Precis Med· June 2023

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A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Jasmine Gratton, Marta Futema, Steve E Humphries, Aroon D Hingorani, Chris Finan

JACC Adv· June 2023

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Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis.
Ilais Moreno Velásquez, Anders Malarstig, Damiano Baldassarre, Yan Borne, Ulf de Faire, Steve E Humphries

Curr Res Transl Med· February 2023

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How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis.
Rita Faria, Pedro Saramago, Edward Cox, Stephen Weng, Barbara Iyen, Steve E Humphries

Atherosclerosis· February 2023

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How should public health recommendations address Lp(a) measurement, a causative risk factor for cardiovascular disease (CVD)?
Alberico L Catapano, Magdalena Daccord, Elaine Damato, Steve E Humphries, R Dermot G Neely

Atherosclerosis· May 2022

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Genetic testing for familial hypercholesterolemia-past, present, and future.
Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E Humphries

J Lipid Res· March 2022

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LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.
Jasmine Gratton, Chris Finan, Aroon D Hingorani, Steve E Humphries, Marta Futema

Front Genet· March 2022

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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Joana R Chora, Michael A Iacocca, Lukáš Tichý, Hannah Wand, C Lisa Kurtz, Steve E Humphries

Genet Med· February 2022

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Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care.
Matthew Jones, Ralph K Akyea, Katherine Payne, Steve E Humphries, Hasidah Abdul-Hamid

J Pers Med· February 2022

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Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Paolo Zanoni, Grigorios Panteloglou, Alaa Othman, Joel T Haas, Roger Meier, Steve E Humphries

Circ Res· January 2022

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Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care.
Nadeem Qureshi, Ralph K Akyea, Brittany Dutton, Jo Leonardi-Bee, Steve E Humphries

Open Heart· October 2021

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