DEVELOPMENT OF AN AFFORDABLE, SENSITIVE AND RAPID SCREENING METHOD FOR MUTATION DETECTION IN UK FH SUBJECTS द्वारा Scartezini, M, Hubbart, C, Whittall, R, Neil, H, Humphrics, SE

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men. द्वारा Scartezini, M, Hubbart, C, Whittall, R, Cooper, J, Neil, A, Humphries, SE

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients. द्वारा Whittall, R, Scartezini, M, Li, K, Hubbart, C, Reiner, Z, Abraha, A, Neil, H, Dedoussis, G, Humphries, SE

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic द्वारा Futema, M, Whittall, R, Kiley, A, Steel, L, Cooper, J, Badmus, E, Leigh, SE, Karpe, F, Neil, H, Humphries, SE

Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9. द्वारा Humphries, SE, Neely, R, Whittall, R, Troutt, J, Konrad, R, Scartezini, M, Li, K, Cooper, J, Acharya, J, Neil, A

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. द्वारा Futema, M, Whittall, R, Kiley, A, Steel, L, Cooper, J, Badmus, E, Leigh, SE, Karpe, F, Neil, H, Humphries, SE

The utility of DNA-based testing in patients with familial hypercholesterolaemia in the UK द्वारा Humphries, SE, Whittall, R, Hubbard, C, Cooper, J, Soutar, A, Naoumova, R, Thompson, G, Seed, M, Durrington, R, Miller, J, Betteridge, D, Neil, A

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. द्वारा Humphries, SE, Whittall, R, Hubbart, C, Maplebeck, S, Cooper, J, Soutar, A, Naoumova, R, Thompson, G, Seed, M, Durrington, P, Miller, J, Betteridge, D, Neil, H

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. द्वारा Talmud, P, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, J, Harrison, S, Li, K, Drenos, F, Karpe, F, Neil, H, Descamps, O, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Hingorani, A, Kumari, M, Humphries, SE

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. द्वारा Futema, M, Plagnol, V, Li, K, Whittall, R, Neil, H, Seed, M, Bertolini, S, Calandra, S, Descamps, O, Graham, C, Hegele, R, Karpe, F, Durst, R, Leitersdorf, E, Lench, N, Nair, DR, Soran, H, Van Bockxmeer, F, Humphries, SE

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study द्वारा Talmud, P, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, J, Harrison, S, Li, K, Drenos, F, Karpe, F, W Neil, H, Descamps, O, Langenberg, C, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Whittaker, J, Hingorani, A, Kumari, M, Humphries, SE, Humphries, SE

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the g... द्वारा Alharbi, K, Aldahmesh, M, Spanakis, E, Haddad, L, Whittall, R, Chen, X, Rassoulian, H, Smith, M, Sillibourne, J, Ball, N, Graham, N, Briggs, P, Simpson, I, Phillips, D, Lawlor, D, Ye, S, Humphries, SE, Cooper, C, Smith, G, Ebrahim, S, Eccles, D, Day, I

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms द्वारा Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T-MT, Texier, Y, van Beersum, SEC, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJC, Coene, KLM, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJF, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJP, de Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A, Franklin, C, Futema, M, Humphries, SE, Hurles, M, Joyce, C, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K