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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A. Steward CA, et al. Among authors: vitsios d. NPJ Genom Med. 2019 Dec 2;4:31. doi: 10.1038/s41525-019-0106-7. eCollection 2019. NPJ Genom Med. 2019. PMID: 31814998 Free PMC article.
Exome-Based Rare-Variant Analyses in CKD.
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG. Cameron-Christie S, et al. Among authors: vitsios d. J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13. J Am Soc Nephrol. 2019. PMID: 31085678 Free PMC article.
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Carss KJ, Baranowska AA, Armisen J, Webb TR, Hamby SE, Premawardhana D, Al-Hussaini A, Wood A, Wang Q, Deevi SVV, Vitsios D, Lewis SH, Kotecha D, Bouatia-Naji N, Hesselson S, Iismaa SE, Tarr I, McGrath-Cadell L, Muller DW, Dunwoodie SL, Fatkin D, Graham RM, Giannoulatou E, Samani NJ, Petrovski S, Haefliger C, Adlam D. Carss KJ, et al. Among authors: vitsios d. Circ Genom Precis Med. 2020 Dec;13(6):e003030. doi: 10.1161/CIRCGEN.120.003030. Epub 2020 Oct 30. Circ Genom Precis Med. 2020. PMID: 33125268 Free PMC article.
A minimal role for synonymous variation in human disease.
Dhindsa RS, Wang Q, Vitsios D, Burren OS, Hu F, DiCarlo JE, Kruglyak L, MacArthur DG, Hurles ME, Petrovski S. Dhindsa RS, et al. Among authors: vitsios d. Am J Hum Genet. 2022 Dec 1;109(12):2105-2109. doi: 10.1016/j.ajhg.2022.10.016. Am J Hum Genet. 2022. PMID: 36459978 Free PMC article.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Nag A, Dhindsa RS, Middleton L, Jiang X, Vitsios D, Wigmore E, Allman EL, Reznichenko A, Carss K, Smith KR, Wang Q, Challis B, Paul DS, Harper AR, Petrovski S. Nag A, et al. Among authors: vitsios d. Am J Hum Genet. 2023 Mar 2;110(3):487-498. doi: 10.1016/j.ajhg.2023.02.002. Epub 2023 Feb 20. Am J Hum Genet. 2023. PMID: 36809768 Free PMC article.
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