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

por Gratton, Jasmine, Humphries, Steve E., Futema, Marta
Publicado 2023

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

por Pears, Robert, Griffin, Michael, Futema, Marta, Humphries, Steve E.
Publicado 2015

Genetic Architecture of Familial Hypercholesterolaemia

por Sharifi, Mahtab, Futema, Marta, Nair, Devaki, Humphries, Steve E.
Publicado 2017

Polygenic Hypercholesterolemia and Cardiovascular Disease Risk

por Sharifi, Mahtab, Futema, Marta, Nair, Devaki, Humphries, Steve E.
Publicado 2019

Genetic testing for familial hypercholesterolemia—past, present, and future

por Futema, Marta, Taylor-Beadling, Alison, Williams, Maggie, Humphries, Steve E.
Publicado 2021

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

por Gratton, Jasmine, Finan, Chris, Hingorani, Aroon D., Humphries, Steve E., Futema, Marta
Publicado 2022

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

por Futema, Marta, Plagnol, Vincent, Whittall, Ros A, Neil, H Andrew W, Humphries, Steve Eric
Publicado 2012

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

por Hall, Charlotte L, Sutanto, Henry, Dalageorgou, Chrysoula, McKenna, William John, Syrris, Petros, Futema, Marta
Publicado 2018

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

por Leigh, Sarah, Futema, Marta, Whittall, Ros, Taylor-Beadling, Alison, Williams, Maggie, den Dunnen, Johan T, Humphries, Steve E
Publicado 2017

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

por Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
Publicado 2016

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

por Futema, Marta, Whittall, Ros A., Kiley, Amy, Steel, Louisa K., Cooper, Jackie A., Badmus, Ebele, Leigh, Sarah E., Karpe, Fredrik, Neil, H. Andrew W.
Publicado 2013

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

por Futema, Marta, Cooper, Jackie A., Charakida, Marietta, Boustred, Christopher, Sattar, Naveed, Deanfield, John, Lawlor, Debbie A., Timpson, Nicholas J., Humphries, Steve E., Hingorani, Aroon D.
Publicado 2017

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

por Mickiewicz, Agnieszka, Futema, Marta, Ćwiklinska, Agnieszka, Kuchta, Agnieszka, Jankowski, Maciej, Kaszubowski, Mariusz, Chmara, Magdalena, Wasąg, Bartosz, Fijałkowski, Marcin, Jaguszewski, Miłosz, Humphries, Steve E., Gruchała, Marcin
Publicado 2020

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

por Ramaswami, Uma, Futema, Marta, Bogsrud, Martin P., Holven, Kirsten B., Roeters van Lennep, Jeanine, Wiegman, Albert, Descamps, Olivier S., Vrablik, Michal, Freiberger, Tomas, Dieplinger, Hans, Greber-Platzer, Susanne, Hanauer-Mader, Gabriele, Bourbon, Mafalda, Drogari, Euridiki, Humphries, Steve E.
Publicado 2020

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

por Ekong, Rosemary, Nellist, Mark, Hoogeveen‐Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Publicado 2016

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

por Sharifi, Mahtab, Higginson, Elizabeth, Bos, Sven, Gallivan, Angela, Harvey, Darren, Li, Ka Wah, Abeysekera, Amali, Haddon, Angela, Ashby, Helen, Shipman, Kate E., Cooper, Jackie A., Futema, Marta, Roeters van Lennep, Jeanine E., Sijbrands, Eric J.G., Labib, Mourad, Nair, Devaki, Humphries, Steve E.
Publicado 2017

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

por Futema, Marta, Plagnol, Vincent, Li, KaWah, Whittall, Ros A, Neil, H Andrew W, Seed, Mary, Bertolini, Stefano, Calandra, Sebastiano, Descamps, Olivier S, Graham, Colin A, Hegele, Robert A, Karpe, Fredrik, Durst, Ronen, Leitersdorf, Eran, Lench, Nicholas, Nair, Devaki R, Soran, Handrean, Van Bockxmeer, Frank M, Humphries, Steve E
Publicado 2014

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

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2014

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

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J. Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2015

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

por Lopes, Luis R, Garcia-Hernández, Soledad, Lorenzini, Massimiliano, Futema, Marta, Chumakova, Olga, Zateyshchikov, Dmitry, Isidoro-Garcia, Maria, Villacorta, Eduardo, Escobar-Lopez, Luis, Garcia-Pavia, Pablo, Bilbao, Raquel, Dobarro, David, Sandin-Fuentes, Maria, Catalli, Claudio, Gener Querol, Blanca, Mezcua, Ainhoa, Garcia Pinilla, Jose, Bloch Rasmussen, Torsten, Ferreira-Aguar, Ana, Revilla-Martí, Pablo, Basurte Elorz, Maria Teresa, Bautista Paves, Alicia, Ramon Gimeno, Juan, Figueroa, Ana Virginia, Franco-Gutierrez, Raul, Fuentes-Cañamero, Maria Eugenia, Martinez Moreno, Marina, Ortiz-Genga, Martin, Piqueras-Flores, Jesus, Analia Ramos, Karina, Rudzitis, Ainars, Ruiz-Guerrero, Luis, Stein, Ricardo, Triguero-Bocharán, Mayte, de la Higuera, Luis, Ochoa, Juan Pablo, Abu-Bonsrah, Dad, Kwok, Cecilia Y T, Smith, Jacob B, Porrello, Enzo R, Akhtar, Mohammed M, Jager, Joanna, Ashworth, Michael, Syrris, Petros, Elliott, David A, Monserrat, Lorenzo, Elliott, Perry M
Publicado 2021