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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: kramarek m. 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.
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T. Grodecká L, et al. Among authors: kramarek m. J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12. J Mol Med (Berl). 2017. PMID: 27837218
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H, Bily V, Soucek P, Kramarek M, Hakl R, Ballonova L, Ravcukova B, Ricna D, Kozena K, Kratochvilova L, Sobotkova M, Zachova R, Kuklinek P, Kralickova P, Krcmova I, Hanzlikova J, Vachova M, Krystufkova O, Dankova E, Jesenak M, Novackova M, Svoboda M, Litzman J, Freiberger T. Grombirikova H, et al. Among authors: kramarek m. J Clin Immunol. 2023 Nov;43(8):1974-1991. doi: 10.1007/s10875-023-01565-w. Epub 2023 Aug 25. J Clin Immunol. 2023. PMID: 37620742 Free PMC article.