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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: brunham lr. 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.
Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe.
Ruel I, Aljenedil S, Sadri I, de Varennes É, Hegele RA, Couture P, Bergeron J, Wanneh E, Baass A, Dufour R, Gaudet D, Brisson D, Brunham LR, Francis GA, Cermakova L, Brophy JM, Ryomoto A, Mancini GBJ, Genest J. Ruel I, et al. Among authors: brunham lr. Clin Chem. 2018 Feb;64(2):355-362. doi: 10.1373/clinchem.2017.279422. Epub 2017 Oct 16. Clin Chem. 2018. PMID: 29038147
Simplified Canadian Definition for Familial Hypercholesterolemia.
Ruel I, Brisson D, Aljenedil S, Awan Z, Baass A, Bélanger A, Bergeron J, Bewick D, Brophy JM, Brunham LR, Couture P, Dufour R, Francis GA, Frohlich J, Gagné C, Gaudet D, Grégoire JC, Gupta M, Hegele RA, Mancini GBJ, McCrindle BW, Pang J, Raggi P, Tu JV, Watts GF, Genest J. Ruel I, et al. Among authors: brunham lr. Can J Cardiol. 2018 Sep;34(9):1210-1214. doi: 10.1016/j.cjca.2018.05.015. Epub 2018 May 19. Can J Cardiol. 2018. PMID: 30093300 Free article.
Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.
Brunham LR, Ruel I, Aljenedil S, Rivière JB, Baass A, Tu JV, Mancini GBJ, Raggi P, Gupta M, Couture P, Pearson GJ, Bergeron J, Francis GA, McCrindle BW, Morrison K, St-Pierre J, Henderson M, Hegele RA, Genest J, Goguen J, Gaudet D, Paré G, Romney J, Ransom T, Bernard S, Katz P, Joy TR, Bewick D, Brophy J. Brunham LR, et al. Can J Cardiol. 2018 Dec;34(12):1553-1563. doi: 10.1016/j.cjca.2018.09.005. Can J Cardiol. 2018. PMID: 30527143
122 results