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2015 1
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Page 1
A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes.
Saliba-Gustafsson P, Justesen JM, Ranta A, Sharma D, Bielczyk-Maczynska E, Li J, Najmi LA, Apodaka M, Aspichueta P, Björck HM, Eriksson P, Franco-Cereceda A, Gloudemans M, Mujica E, den Hoed M, Assimes TL, Quertermous T, Carcamo-Orive I, Park CY, Knowles JW. Saliba-Gustafsson P, et al. medRxiv [Preprint]. 2024 Feb 4:2024.02.03.24302258. doi: 10.1101/2024.02.03.24302258. medRxiv. 2024. PMID: 38352379 Free PMC article. Preprint.
A single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes.
Bielczyk-Maczynska E, Sharma D, Blencowe M, Saliba Gustafsson P, Gloudemans MJ, Yang X, Carcamo-Orive I, Wabitsch M, Svensson KJ, Park CY, Quertermous T, Knowles JW, Li J. Bielczyk-Maczynska E, et al. Am J Physiol Cell Physiol. 2023 Sep 1;325(3):C648-C660. doi: 10.1152/ajpcell.00148.2023. Epub 2023 Jul 24. Am J Physiol Cell Physiol. 2023. PMID: 37486064 Free article.
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M, Lee PC, Hudgins LC, Duell PB, Ahmad Z, Baum SJ, Linton MF, de Ferranti SD, Ballantyne CM, Larry JA, Hemphill LC, Kindt I, Gidding SS, Martin SS, Moriarty PM, Thompson PP, Underberg JA, Guyton JR, Andersen RL, Whellan DJ, Benuck I, Kane JP, Myers K, Howard W, Staszak D, Jamison A, Card MC, Bourbon M, Chora JR, Rader DJ, Knowles JW, Wilemon K, McGowan MP. Cuchel M, et al. J Am Heart Assoc. 2023 May 2;12(9):e029175. doi: 10.1161/JAHA.122.029175. Epub 2023 Apr 29. J Am Heart Assoc. 2023. PMID: 37119068 Free PMC article.
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. 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.
67 results