Search Results - "HUMPHRIES, Steve"

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  1. 1

    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 by Gratton, Jasmine, Humphries, Steve E., Futema, Marta

    “…BACKGROUNDFamilial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature…”
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    Journal Article
  2. 2

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

    “…Familial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature coronary…”
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    Journal Article
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    Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme? by Humphries, Steve E, Ramaswami, Uma, Hopper, Neil

    Published in Current atherosclerosis reports (01-12-2023)
    “…Purpose of Review The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited…”
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  5. 5

    Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia by Futema, Marta, Bourbon, Mafalda, Williams, Maggie, Humphries, Steve E.

    Published in Atherosclerosis (01-10-2018)
    “…Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a…”
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  6. 6

    The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data by Ramaswami, Uma, Cooper, Jackie, Humphries, Steve E

    Published in Archives of disease in childhood (01-03-2017)
    “…BackgroundThe National Institute for Health and Care Excellence 2008 guidelines on the treatment and management of familial hypercholesterolaemia (FH)…”
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  7. 7

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

    Published in Journal of lipid research (01-01-2021)
    “…In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as…”
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  8. 8

    Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK by Kerr, Marion, Pears, Robert, Miedzybrodzka, Zofia, Haralambos, Kate, Cather, Moyra, Watson, Melanie, Humphries, Steve E

    Published in European heart journal (14-06-2017)
    “…Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature…”
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    Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families by Ramaswami, Uma, Priestley-Barnham, Lorraine, Humphries, Steve E

    Published in Current opinion in lipidology (01-12-2024)
    “…Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any…”
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    Statins for children with familial hypercholesterolemia by Vuorio, Alpo, Kuoppala, Jaana, Kovanen, Petri T, Humphries, Steve E, Tonstad, Serena, Wiegman, Albert, Drogari, Euridiki, Ramaswami, Uma

    Published in Cochrane database of systematic reviews (07-11-2019)
    “…Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers,…”
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  13. 13

    Cardiovascular risk stratification in familial hypercholesterolaemia by Sharifi, Mahtab, Rakhit, Roby D, Humphries, Steve E, Nair, Devaki

    Published in Heart (British Cardiac Society) (01-07-2016)
    “…Familial hypercholesterolaemia (FH) is a common autosomal-dominant disorder in most European countries. Patients with FH are characterised by a raised level of…”
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  14. 14

    Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis by McKay, Ailsa J., Hogan, Helen, Humphries, Steve E., Marks, Dalya, Ray, Kausik K., Miners, Alec

    Published in Atherosclerosis (01-08-2018)
    “…Familial hypercholesterolaemia (FH) is widely underdiagnosed. Cascade testing (CT) of relatives has been shown to be feasible, acceptable and cost-effective in…”
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  15. 15

    Genetic Architecture of Familial Hypercholesterolaemia by Sharifi, Mahtab, Futema, Marta, Nair, Devaki, Humphries, Steve E.

    Published in Current cardiology reports (01-05-2017)
    “…Purpose of Review Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a…”
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    Polygenic Hypercholesterolemia and Cardiovascular Disease Risk by Sharifi, Mahtab, Futema, Marta, Nair, Devaki, Humphries, Steve E.

    Published in Current cardiology reports (01-06-2019)
    “…Purpose of the Review I dentification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to…”
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  17. 17

    Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD by Fairoozy, Roaa Hani, White, Jon, Palmen, Jutta, Kalea, Anastasia Z, Humphries, Steve E

    Published in PloS one (01-12-2016)
    “…The Low-Density Lipoprotein Receptor (LDLR) SNP rs6511720 (G>T), located in intron-1 of the gene, has been identified in genome-wide association studies (GWAS)…”
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    Management of familial hypercholesterolaemia in childhood by Ramaswami, Uma, Humphries, Steve E.

    Published in Current opinion in pediatrics (01-10-2020)
    “…All guidelines for the management of heterozygous familial hypercholesterolaemia in children and young people recommend statins to lower LDL-cholesterol…”
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    Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT) by Weng, Stephen F, Kai, Joe, Andrew Neil, H, Humphries, Steve E, Qureshi, Nadeem

    Published in Atherosclerosis (01-02-2015)
    “…Abstract Objective Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant disorder. The vast majority of affected individuals remain…”
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    The UCL low-density lipoprotein receptor gene variant database: pathogenicity update by Leigh, Sarah, Futema, Marta, Whittall, Ros, Taylor-Beadling, Alison, Williams, Maggie, den Dunnen, Johan T, Humphries, Steve E

    Published in Journal of medical genetics (01-04-2017)
    “…Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor ( ) gene. Predicting whether novel…”
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