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6 in total

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

Authors: Marta Futema; Vincent Plagnol; Ros A Whittall; H Andrew W Neil; Steve Eric Humphries
Journal: J Med Genet Date: 2012-10 Impact factor: 6.318

2. The reduced cost of providing a nationally recognised service for familial hypercholesterolaemia.

Authors: Robert Pears; Michael Griffin; Melanie Watson; Rebecca Wheeler; Debbie Hilder; Beverley Meeson; Sallie Bacon; Christopher D Byrne
Journal: Open Heart Date: 2014-08-12

3. An online questionnaire survey of UK general practitioners' knowledge and management of familial hypercholesterolaemia.

Authors: See Kwok; Jing Pang; Safwaan Adam; Gerald F Watts; Handrean Soran
Journal: BMJ Open Date: 2016-11-09 Impact factor: 2.692

4. Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?

Authors: M Futema; M Kumari; C Boustred; M Kivimaki; S E Humphries
Journal: Atherosclerosis Date: 2015-01-28 Impact factor: 5.162

5. Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Authors: Hongyu Kuang; Xue Zhou; Li Li; Qijian Yi; Weinian Shou; Tiewei Lu
Journal: Medicine (Baltimore) Date: 2018-10 Impact factor: 1.817

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

Authors: Marta Futema; Ros A Whittall; Amy Kiley; Louisa K Steel; Jackie A Cooper; Ebele Badmus; Sarah E Leigh; Fredrik Karpe; H Andrew W Neil; Steve E Humphries
Journal: Atherosclerosis Date: 2013-04-18 Impact factor: 5.162

6 in total