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Page 1
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Among authors: kasperaviciute d. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group. Zagorec N, et al. Am J Kidney Dis. 2025 Apr;85(4):465-476.e1. doi: 10.1053/j.ajkd.2024.10.009. Epub 2024 Dec 26. Am J Kidney Dis. 2025. PMID: 39732359 Free article.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium; Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J. Schönauer R, et al. Gastroenterology. 2024 May;166(5):902-914. doi: 10.1053/j.gastro.2023.12.007. Epub 2023 Dec 13. Gastroenterology. 2024. PMID: 38101549 Free article.
Epilepsy pharmacogenetics.
Kasperaviciūte D, Sisodiya SM. Kasperaviciūte D, et al. Pharmacogenomics. 2009 May;10(5):817-36. doi: 10.2217/pgs.09.34. Pharmacogenomics. 2009. PMID: 19450130 Review.
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Kasperaviciūte D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J, Chinthapalli K, Clayton LM, Shianna KV, Radtke RA, Mikati MA, Gallentine WB, Husain AM, Alhusaini S, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Heuser K, Amos L, Ortega M, Zumsteg D, Wieser HG, Steinhoff BJ, Krämer G, Hansen J, Dorn T, Kantanen AM, Gjerstad L, Peuralinna T, Hernandez DG, Eriksson KJ, Kälviäinen RK, Doherty CP, Wood NW, Pandolfo M, Duncan JS, Sander JW, Delanty N, Goldstein DB, Sisodiya SM. Kasperaviciūte D, et al. Brain. 2010 Jul;133(Pt 7):2136-47. doi: 10.1093/brain/awq130. Epub 2010 Jun 3. Brain. 2010. PMID: 20522523 Free PMC article.
Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.
Catarino CB, Kasperavičiūtė D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, Dorn T, Grunwald T, Chaila E, Depondt C, Krämer G, Delanty N, Goldstein DB, Sisodiya SM. Catarino CB, et al. Among authors: kasperaviciute d. Epilepsia. 2011 Aug;52(8):1388-92. doi: 10.1111/j.1528-1167.2011.03087.x. Epub 2011 Jun 2. Epilepsia. 2011. PMID: 21635232 Free PMC article.
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
Kasperavičiūtė D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RC, Land JM, Sisodiya SM. Kasperavičiūtė D, et al. PLoS One. 2011;6(8):e23182. doi: 10.1371/journal.pone.0023182. Epub 2011 Aug 17. PLoS One. 2011. PMID: 21858020 Free PMC article.
142 results