Research Publications from FH Wales

The FH Wales team have been involved in a number of publications, these include:

Using PASS database and geographic information systems (GIS) to map familial hypercholesterolaemia (FH) diagnoses in England and Wales. Haralambos K, Whitmore J (2016). HEART UK Conference Poster. Accepted for publication, Atherosclerosis.
Development of integrated information technology (IT) system for familial hypercholesterolaemia service in England. Haralambos K, Gritzmacher L, McDowell IFW, Bayly G, Taylor A, Whitemore J, Williams M, Hills A, Payne J.(2015) HEART UK Conference Poster.
Relationship between measurements of non-HDL-cholestrol and LDL-cholesterol in Familial Hypercholesterolaemia J.Abreu, K. Haralambos, P. Ashfield-Watt, R. Edwards, R. Gingell, D.Townsend, D. Datta, I.F.W. McDowell. (2016) Atherosclerosis 245
Genetic variants of uncertain significance (VUS) In Familial Hypercholesterolaemia (FH) in Wales: Year 2 update K. Haralambos, S.D. Whatley, R. Edwards, R. Gingell, D.Townsend, P. Holmans, A. Clarke, B.N. Datta, Butler R, Palmer-Smith S, Wood M, I.F.W. McDowell.(2016) Atherosclerosis 245 e246
Web based tools to assess eligibility for genetic testing for familial hypercholesterolaemia (FH) K. Haralambos, S.D. Whatley, R. Edwards, R. Gingell, D.Townsend, P. Holmans, A. Clarke, B.N. Datta, I.F.W. McDowell (2016) Atherosclerosis 245 e245
Development of an e-learning program on familial hypercholesterolaemia (FH) for primary care. R. Edwards, R. Gingell, D.Townsend, N.Lewis, D.Datta, I.F.W. McDowell. (2016) Atherosclerosis 245
Diagnostic scoring for famililial hypercholesterolaemia in practice. Haralambos K, Ashfield-Watt P, I.F.W. McDowell. (2016) Atherosclerosis 245
Genetic variants of uncertain significance (VUS) In Familial Hypercholesterolaemia (FH): Can family based association studies help determine pathogenicity? K. Haralambos, S.D. Whatley, R. Edwards, R. Gingell, D.Townsend, P. Holmans, A. Clarke, B.N. Datta, I.F.W. McDowell. Atherosclerosis: Volume 236, e303-e309. (2014)
Clinical Experience of Scoring Criteria for Familial Hypercholesterolaemia (FH) Genetic Testing in Wales. Haralambos K , Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DBN, McDowell IFW. Atherosclerosis: 240 (2015) 190-196
Lipoprotein apheresis – The Cardiff experience. Watkins, H Weedon, A Govier, BN Datta (2013) Atherosclerosis Volume 231, Issue 2, pp e10
Lipids Explained. PHC774 Edwards R Primary Health Care (2013)
Initiation of a nurse led FH clinic for the identification of individuals with familial hypercholesterolaemia (FH) in a rural setting. D. Townsend, R. Gingell, R. Edwards, B.N. Datta , L. Edmunds, K. Haralambos, D. Lewis, D. McKeogh, K. Poyser, E.J Williams, N. Haboubi (2013) Atherosclerosis Volume 231, Issue 2, pp e7.
Identification of familial hypercholesterolaemia within Primary care – a collaborative approach with community GP networks. D. Townsend, L. Edmunds, R. Gingell, R. Edwards, B.N Datta, K. Haralambos, A. Cookson, A. Gunneberg ,N. Haboubi, I.O. Connor (2013) Atherosclerosis Volume 231, Issue 2, pp e9.
Implementation of familial hypercholesterolaemia(FH) nurse led assessment clinics in South Wales. R. Edwards , N. El Farhan , S. Woods , H. Hopcroft , D. Townsend , R. Gingell, K. Haralambos, B.N Datta, I.F.W. McDowell, L. Edmunds (2013) Atherosclerosis Volume 231, Issue 2, pp e7.
Implementation of a multidisciplinary approach to diagnosis and management of familial hypercholesterolaemia (FH) in Wales: The role of the FH specialist nurse. R. Edwards ,D. Townsend , R. Gingell , K. Haralambos , B.N. Datta , I.F.W. McDowell , L. Edmunds . (2013) Atherosclerosis Volume 231, Issue 2, pp e1.
Familial Hypercholesterolaemia (FH) in Wales is genetically hetergeneous. K. Haralambos, S. Whatley, D. Datta, D. Townsend, R. Gingell, R. Edwards, P. Lansberg , C. Graham , L. Palacios, P.Dean, I.F.W. McDowell (2013) Atherosclerosis Volume 231, Issue 2, pp e1
Familial Hypercholesterolaemia (FH) in Wales - Integrating R&D with Service Delivery. Haralambos K, Whatley S, Butler R, Datta D, Townsend D, Gingell R, Edwards R, Howard K, McDowell I, Conference Poster (2013)
Genetic testing for familial hypercholesterolaemia in Wales: Identification of recurrent and novel variants. Haralambos K, Whatley S, Datta D & McDowell I. In Atherosclerosis (2012) 223, p 527-535.
Evaluation of genotype scoring criteria for familial hyercholesterolaemia in Wales. Haralambos K, Whatley S, Datta D, Townsend D, Gingell R, Edwards R, Williams J, Lansberg P, I McDowell I. In Atherosclerosis (2012) 223, p 527-535.
DNA sequence variant c.932A>C, p.Lys311Thr in LDLR gene in familial hypercholesterolaemia: Observations from family studies. Whatley S, Haralambos K, Yarram L, Williams M, Greenslade M, Palacios L, Datta D, Rees A, Townsend D, McDowell I. In Atherosclerosis (2012) 223, p 527-535.
Individuals' Experiences of, and Responses to, a Negative Genetic Test Result for Familial Hypercholesterolaemia. Hilgart J, Mercer J, Thirlaway K. In Journal of Health Psychology (2012).
Genotyping of patients with familial hypercholesterolaemia from lipid clinics in Wales. Wilson VC, Haralambos K, Whatley S, Halcox JPJ, Mcdowell IFW. In Atherosclerosis (2011) Vol. 218 pE2.
Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Datta BN, McDowell IF, Rees. In Current Opinion in Lipidology (2010) 21, 366-371.
Exploring the impact of DNA testing for familial hypercholesterolaemia . Watson, M. In British Journal of Cardiac Nursing (2010) Vol. 5, No 6.
Familial hypercholesterolaemia screening - application of genetic testing and diagnostic LDL-C cut-off values for relatives of FH patients in a Welsh population. Lee WP, Ong BB, Haralambos K, Townsend D, Rees JAE, Williams EJ, Halcox JP, McDowell In European Heart Journal (2010) 31, 812.
Development of Register and Website Resources to Support a Familial Hypercholesterolaemia (FH) Family Cascade Testing Programme. Haralambos K, Townsend D, Williams B, Rees A, Williams J, Diaz J, de Rond M, van Vliet J, Kindt I, Lansberg P, McDowell IFW. In Journal of Medical Genetics (2008) Vol. 45, p S109.
A survey of needs from a patient forum for familial hypercholesterolaemia (FH) Townsend D, Williams B, Rees A, Williams J, Matthews S, Rowlands P, McDowell I. In Atherosclerosis (2007) 194, 285.
An evaluation of DNA diagnostics for familial hypercholesterolaemia including a study of personal and family implications. McDowell I, Watson M, Townsend D, Featherstone K, Parham K, Whatley S. In Atherosclerosis (2007) 194, 282.