Genetic testing for familial hypercholesterolemia—past, present, and future
Futema, Marta, Taylor-Beadling, Alison, Williams, Maggie, Humphries, Steve E.
Published in Journal of lipid research (01.01.2021)
Published in Journal of lipid research (01.01.2021)
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Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
Kerr, Marion, Pears, Robert, Miedzybrodzka, Zofia, Haralambos, Kate, Cather, Moyra, Watson, Melanie, Humphries, Steve E
Published in European heart journal (14.06.2017)
Published in European heart journal (14.06.2017)
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Folkersen, Lasse, Fauman, Eric, Sabater-Lleal, Maria, Strawbridge, Rona J, Frånberg, Mattias, Sennblad, Bengt, Baldassarre, Damiano, Veglia, Fabrizio, Humphries, Steve E, Rauramaa, Rainer, de Faire, Ulf, Smit, Andries J, Giral, Philippe, Kurl, Sudhir, Mannarino, Elmo, Enroth, Stefan, Johansson, Åsa, Enroth, Sofia Bosdotter, Gustafsson, Stefan, Lind, Lars, Lindgren, Cecilia, Morris, Andrew P, Giedraitis, Vilmantas, Silveira, Angela, Franco-Cereceda, Anders, Tremoli, Elena, Gyllensten, Ulf, Ingelsson, Erik, Brunak, Søren, Eriksson, Per, Ziemek, Daniel, Hamsten, Anders, Mälarstig, Anders
Published in PLoS genetics (03.04.2017)
Published in PLoS genetics (03.04.2017)
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Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis
McKay, Ailsa J., Hogan, Helen, Humphries, Steve E., Marks, Dalya, Ray, Kausik K., Miners, Alec
Published in Atherosclerosis (01.08.2018)
Published in Atherosclerosis (01.08.2018)
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Journal Article
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
Talmud, Philippa J, Prof, Shah, Sonia, MSc, Whittall, Ros, MSc, Futema, Marta, BSc, Howard, Philip, BSc, Cooper, Jackie A, MSc, Harrison, Seamus C, MRCS, Li, KaWah, MSc, Drenos, Fotios, PhD, Karpe, Frederik, PhD, Neil, H Andrew W, Prof, Descamps, Olivier S, PhD, Langenberg, Claudia, PhD, Lench, Nicholas, PhD, Kivimaki, Mika, Prof, Whittaker, John, Prof, Hingorani, Aroon D, Prof, Kumari, Meena, PhD, Humphries, Steve E, Prof
Published in The Lancet (British edition) (13.04.2013)
Published in The Lancet (British edition) (13.04.2013)
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Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
Weng, Stephen F, Kai, Joe, Andrew Neil, H, Humphries, Steve E, Qureshi, Nadeem
Published in Atherosclerosis (01.02.2015)
Published in Atherosclerosis (01.02.2015)
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Journal Article
An analysis of drug modulation of abdominal aortic aneurysm growth through 25 years of surveillance
Thompson, Andrew, MD, FRCS, Cooper, Jackie A., MSc, Fabricius, Michael, MB BS, Humphries, Steve E., PhD, MRCP, FRCPath, Ashton, Hilary A., MSc, Hafez, Hany, PhD, FRCS
Published in Journal of vascular surgery (01.07.2010)
Published in Journal of vascular surgery (01.07.2010)
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Carotid plaque-thickness and common carotid IMT show additive value in cardiovascular risk prediction and reclassification
Amato, Mauro, Veglia, Fabrizio, de Faire, Ulf, Giral, Philippe, Rauramaa, Rainer, Smit, Andries J, Kurl, Sudhir, Ravani, Alessio, Frigerio, Beatrice, Sansaro, Daniela, Bonomi, Alice, Tedesco, Calogero C, Castelnuovo, Samuela, Mannarino, Elmo, Humphries, Steve E, Hamsten, Anders, Tremoli, Elena, Baldassarre, Damiano
Published in Atherosclerosis (01.08.2017)
Published in Atherosclerosis (01.08.2017)
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Journal Article
Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register
Humphries, Steve E., Cooper, Jackie A., Capps, Nigel, Durrington, Paul N., Jones, Ben, McDowell, Ian F.W., Soran, Handrean, Neil, Andrew H.W.
Published in Atherosclerosis (01.02.2019)
Published in Atherosclerosis (01.02.2019)
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The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
Mariano, Cibelle, Alves, Ana Catarina, Medeiros, Ana Margarida, Chora, Joana Rita, Antunes, Marília, Futema, Marta, Humphries, Steve E., Bourbon, Mafalda
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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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
Fairoozy, Roaa Hani, White, Jon, Palmen, Jutta, Kalea, Anastasia Z, Humphries, Steve E
Published in PloS one (01.12.2016)
Published in PloS one (01.12.2016)
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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
Usifo, Ebele, Leigh, Sarah E. A., Whittall, Ros A., Lench, Nicholas, Taylor, Alison, Yeats, Corin, Orengo, Christine A., Martin, Andrew C. R., Celli, Jacopo, Humphries, Steve E.
Published in Annals of human genetics (01.09.2012)
Published in Annals of human genetics (01.09.2012)
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Journal Article
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis
Qureshi, Nadeem, Woods, Bethan, Neves de Faria, Rita, Saramago Goncalves, Pedro, Cox, Edward, Leonardi Bee, Jo, Condon, Laura, Weng, Stephen, Akyea, Ralph K, Iyen, Barbara, Roderick, Paul, Humphries, Steve E, Rowlands, William, Watson, Melanie, Haralambos, Kate, Kenny, Ryan, Datta, Dev, Miedzybrodzka, Zosia, Byrne, Christopher, Kai, Joe
Published in Health technology assessment (Winchester, England) (01.10.2023)
Published in Health technology assessment (Winchester, England) (01.10.2023)
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Circulating Apolipoprotein E Concentration and Cardiovascular Disease Risk: Meta-analysis of Results from Three Studies
Sofat, Reecha, Cooper, Jackie A, Kumari, Meena, Casas, Juan P, Mitchell, Jacqueline P, Acharya, Jayshree, Thom, Simon, Hughes, Alun D, Humphries, Steve E, Hingorani, Aroon D
Published in PLoS medicine (18.10.2016)
Published in PLoS medicine (18.10.2016)
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Journal Article
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
Gratton, Jasmine, Finan, Chris, Hingorani, Aroon D, Humphries, Steve E, Futema, Marta
Published in Frontiers in genetics (31.03.2022)
Published in Frontiers in genetics (31.03.2022)
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Journal Article
Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology
Drenos, Fotios, Grossi, Enzo, Buscema, Massimo, Humphries, Steve E
Published in PloS one (07.05.2015)
Published in PloS one (07.05.2015)
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Journal Article
Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review
Casas, Juan P., Cavalleri, Gianpiero L., Bautista, Leonelo E., Smeeth, Liam, Humphries, Steve E., Hingorani, Aroon D.
Published in American journal of epidemiology (15.11.2006)
Published in American journal of epidemiology (15.11.2006)
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Journal Article
Interleukin 18 and coronary heart disease: Prospective study and systematic review
Jefferis, Barbara J.M.H, Papacosta, Olia, Owen, Christopher G, Wannamethee, S. Goya, Humphries, Steve E, Woodward, Mark, Lennon, Lucy T, Thomson, Andrew, Welsh, Paul, Rumley, Ann, Lowe, Gordon D.O, Whincup, Peter H
Published in Atherosclerosis (01.07.2011)
Published in Atherosclerosis (01.07.2011)
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