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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: hooper aj. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.
Burnett JR, Zhong S, Jiang ZG, Hooper AJ, Fisher EA, McLeod RS, Zhao Y, Barrett PH, Hegele RA, van Bockxmeer FM, Zhang H, Vance DE, McKnight CJ, Yao Z. Burnett JR, et al. Among authors: hooper aj. J Biol Chem. 2007 Aug 17;282(33):24270-83. doi: 10.1074/jbc.M702442200. Epub 2007 Jun 22. J Biol Chem. 2007. PMID: 17588943 Free article.
Screening for familial hypercholesterolaemia.
Bender R, Bell DA, Hooper AJ, Edwards G, van Bockxmeer FM, Watts GF, Burnett JR. Bender R, et al. Among authors: hooper aj. Pathology. 2012 Feb;44(2):122-8. doi: 10.1097/PAT.0b013e32834efa07. Pathology. 2012. PMID: 22228254 Review.
Clinical utility gene card for: Abetalipoproteinaemia.
Burnett JR, Bell DA, Hooper AJ, Hegele RA. Burnett JR, et al. Among authors: hooper aj. Eur J Hum Genet. 2012 Aug;20(8). doi: 10.1038/ejhg.2012.30. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378282 Free PMC article. No abstract available.
Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.
Burnett JR, Bell DA, Hooper AJ, Hegele RA. Burnett JR, et al. Among authors: hooper aj. Eur J Hum Genet. 2015 Jun;23(6):890-. doi: 10.1038/ejhg.2014.224. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335492 Free PMC article. No abstract available.
125 results