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

by Pears, Robert, Griffin, Michael, Futema, Marta, Humphries, Steve E.
Published 2015

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

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

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

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

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

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

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

by 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
Published 2016

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

by 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
Published 2014

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

by 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
Published 2015

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

by 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
Published 2014

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

by Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, Beales, Philip L., Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Allan, Daly, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chris, Futema, Marta, Humphries, Steve E., Hurles, Matt, McCarthy, Shane, Muddyman, Dawn, Muntoni, Francesco, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter J., Schmidts, Miriam, Semple, Robert, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Published 2017