Simon Broome publications

(including papers where samples from the BHF-funded study were used)

  1. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. [No authors listed] BMJ. 1991 Oct 12;303(6807):893-6
  2. Betteridge DJ, Broome K, Durrington PN, Hawkins MM, Humphries SE, Mann JI, Miller JP, Neil HAW, Thompson GR, Thorogood M, Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999; 142:105 112
  3. Huxley RR, Hawkins MH, Humphries SE, Karpe F, Neil HAW, for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Risk of fatal stroke in patients with treated familial hypercholesterolemia. Stroke 2003;34:22-27
  4. Neil HAW, Huxley RR, Hawkins MM, Durrington PN, Betteridge DJ, Humphries SE, Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis 2003;170:73-78
  5. Neil HAW, Seagroatt V, Betteridge DJ, Cooper MP, Durrington PN, Miller JP, Seed M, Naoumova RP, Thompson GR, Huxley R, Humphries SE. Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia. Heart 2004;90:1431-1437
  6. Neil HAW, Hawkins MM, Durrington PN, Betteridge DJ, Capps NE, Humphries SE, for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Non-coronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis 2005;179:293-297
  7. Marks D, Thorogood M, Neil SM, Humphries SE, Neil HAW.  Cascade Screening for Familial Hypercholesterolaemia: implications of a pilot study for national screening programmes.  Journal for Medical Screening 2006;13:156-9. 
  8. Humphries SE, Whittall RA, Hubbart CS, Cooper JA, Soutar AK, Naoumova R, Thompson GR, Seed M, Durrington PN, Miller JP, Betteridge DJB, Neil HAW. Genetic causes of familial hypercholesterolaemia in UK patients: J Med Genet 2006;43:943-949
  9. Neil A, Cooper J, Betteridge J, Capps N, McDowell I, Durrington P, Seed M, Humphries SE. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia:.Eur Heart J. 2008 Nov; 29(21):2625-33. 
  10. Neil, HAW, Cooper J, Betteridge DJ, Capps N, McDowell IFW, Durrington PN, Seed M, Mann JI, Humphries SE on behalf of the Simon Broome Familial Hyperlipidaemia Register Group.   All-cause and cardiovascular mortality in treated patients with severe hypertriglyceridaemia:  A long-term prospective registry study.   Atherosclerosis. 2010  Aug; 211(2):618-23.
  11. Maubaret CG, Salpea KD,  Jain A,  Cooper JA, Hamsten A , Sanders J, Montgomery H,  Neil HAW,  Nair D,  Humphries SE , HIFMECH consortium, Simon Broome Research Group Telomeres are shorter in myocardial infarction patients compared to healthy subjects; correlation with environmental risk factors. J Mol Med. 2010 Aug; 88(8):785-94. 
  12. Futema M, Plagnol V, Whittall RA, Neil HA; Simon Broome Register Group, Humphries SE; UK10K. Use of targeted exome sequencing as a diagnostic tool for familial hyper-cholesterolaemia.J Med Genet. 2012 Oct;49(10):644-9.
  13. Harrison SC, Cooper JA, Talmud PJ, Stevens J, Hamsten A on behalf of the HIFMECH consortium, Sanders J, Montgomery H, Neil HAW, on behalf of the Simon Broome Research Group,  Humphries SE Association of a sequence variant in DAB2IP with coronary heart disease.  Eur Heart J. 2012 Apr; 33(7):881-8. 
  14. Seed M, Betteridge DJ, Cooper J, Caslake M, Durrington PN, Thompson GR, Sattar N, Humphries SE, Neil HAW.  Normal levels of inflammatory markers in treated patients with familial hypercholesterolaemia: a cross sectional study.  J R Soc Med Cardiovasc Dis 2012; 1:9. 
  15. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet. 2013 Apr 13;381(9874):1293-301
  16. Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, Leigh SE, Karpe F, Neil HA; Simon Broome Register Group, 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. Atherosclerosis. 2013 Jul; 229(1):161-8. 
  17. Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M; Simon Broome Consortium, Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM; UK10K Consortium, Humphries SE. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet. 2014 Aug; 51(8):537-44.