Leigh SE - Search Results

1

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE. Usifo E, et al. Among authors: leigh se. Ann Hum Genet. 2012 Sep;76(5):387-401. doi: 10.1111/j.1469-1809.2012.00724.x. Ann Hum Genet. 2012. PMID: 22881376

2

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE. Leigh SE, et al. Ann Hum Genet. 2008 Jul;72(Pt 4):485-98. doi: 10.1111/j.1469-1809.2008.00436.x. Epub 2008 Mar 5. Ann Hum Genet. 2008. PMID: 18325082

3

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

Humphries SE, Norbury G, Leigh S, Hadfield SG, Nair D. Humphries SE, et al. Among authors: leigh s. Curr Opin Lipidol. 2008 Aug;19(4):362-8. doi: 10.1097/MOL.0b013e32830636e5. Curr Opin Lipidol. 2008. PMID: 18607183 Review.

4

Commentary PCSK9 variants: A new database.

Leigh SE, Leren TP, Humphries SE. Leigh SE, et al. Atherosclerosis. 2009 Mar;203(1):32-3. doi: 10.1016/j.atherosclerosis.2009.02.006. Atherosclerosis. 2009. PMID: 19249440 No abstract available.

5

Mutation detection in Croatian patients with familial hypercholesterolemia.

Pećin I, Whittall R, Futema M, Sertić J, Reiner Z, Leigh SE, Humphries SE. Pećin I, et al. Among authors: leigh se. Ann Hum Genet. 2013 Jan;77(1):22-30. doi: 10.1111/j.1469-1809.2012.00735.x. Epub 2012 Nov 6. Ann Hum Genet. 2013. PMID: 23130880

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.

Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, Leigh SE, Karpe F, Neil HA; Simon Broome Register Group; Humphries SE. Futema M, et al. Among authors: leigh se. Atherosclerosis. 2013 Jul;229(1):161-8. doi: 10.1016/j.atherosclerosis.2013.04.011. Epub 2013 Apr 18. Atherosclerosis. 2013. PMID: 23669246 Free PMC article.

7

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.

Khamis A, Palmen J, Lench N, Taylor A, Badmus E, Leigh S, Humphries SE. Khamis A, et al. Among authors: leigh s. Eur J Hum Genet. 2015 Jun;23(6):790-5. doi: 10.1038/ejhg.2014.199. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248394 Free PMC article.

8

Editor-in-Chief's report 2014.

Humphries SE, Leigh S. Humphries SE, et al. Among authors: leigh s. Atherosclerosis. 2015 Mar;239(1):A1-2. doi: 10.1016/j.atherosclerosis.2015.02.007. Epub 2015 Feb 10. Atherosclerosis. 2015. PMID: 25684111 No abstract available.

9

Editor-in-Chief's report 2015.

Humphries SE, Leigh S. Humphries SE, et al. Among authors: leigh s. Atherosclerosis. 2016 Jan;244:224-5. doi: 10.1016/j.atherosclerosis.2015.12.005. Epub 2015 Dec 9. Atherosclerosis. 2016. PMID: 26724559 No abstract available.

10

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT, Humphries SE. Leigh S, et al. J Med Genet. 2017 Apr;54(4):217-223. doi: 10.1136/jmedgenet-2016-104054. Epub 2016 Nov 7. J Med Genet. 2017. PMID: 27821657 Free PMC article.

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