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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
Porcu E, Sadler MC, Lepik K, Auwerx C, Wood AR, Weihs A, Sleiman MSB, Ribeiro DM, Bandinelli S, Tanaka T, Nauck M, Völker U, Delaneau O, Metspalu A, Teumer A, Frayling T, Santoni FA, Reymond A, Kutalik Z. Porcu E, et al. Among authors: kutalik z. Nat Commun. 2021 Sep 24;12(1):5647. doi: 10.1038/s41467-021-25805-y. Nat Commun. 2021. PMID: 34561431 Free PMC article.
The individual and global impact of copy-number variants on complex human traits.
Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team; Porcu E, Reymond A, Kutalik Z. Auwerx C, et al. Among authors: kutalik z. Am J Hum Genet. 2022 Apr 7;109(4):647-668. doi: 10.1016/j.ajhg.2022.02.010. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240056 Free PMC article.
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. Among authors: kutalik z. NPJ Genom Med. 2022 Jun 17;7(1):38. doi: 10.1038/s41525-022-00308-x. NPJ Genom Med. 2022. PMID: 35715439 Free PMC article.
Parent-of-Origin inference for biobanks.
Hofmeister RJ, Rubinacci S, Ribeiro DM, Buil A, Kutalik Z, Delaneau O. Hofmeister RJ, et al. Among authors: kutalik z. Nat Commun. 2022 Nov 5;13(1):6668. doi: 10.1038/s41467-022-34383-6. Nat Commun. 2022. PMID: 36335127 Free PMC article.
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C, Jõeloo M, Sadler MC, Tesio N, Ojavee S, Clark CJ, Mägi R; Estonian Biobank Research Team; Reymond A, Kutalik Z. Auwerx C, et al. Among authors: kutalik z. Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5. Genome Med. 2024. PMID: 38185688 Free PMC article.
318 results