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Page 1
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: zaharieva i. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.
Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A. Williams NM, et al. Among authors: zaharieva i. Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29. Lancet. 2010. PMID: 20888040 Free PMC article.
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, Nguyen TT, Romanos J, Romanos M, Seitz C, Renner TJ, Walitza S, Warnke A, Palmason H, Buitelaar J, Rommelse N, Vasquez AA, Hawi Z, Langley K, Sergeant J, Steinhausen HC, Roeyers H, Biederman J, Zaharieva I, Hakonarson H, Elia J, Lionel AC, Crosbie J, Marshall CR, Schachar R, Scherer SW, Todorov A, Smalley SL, Loo S, Nelson S, Shtir C, Asherson P, Reif A, Lesch KP, Faraone SV. Williams NM, et al. Among authors: zaharieva i. Am J Psychiatry. 2012 Feb;169(2):195-204. doi: 10.1176/appi.ajp.2011.11060822. Am J Psychiatry. 2012. PMID: 22420048 Free PMC article.
A genome-wide association study in 574 schizophrenia trios using DNA pooling.
Kirov G, Zaharieva I, Georgieva L, Moskvina V, Nikolov I, Cichon S, Hillmer A, Toncheva D, Owen MJ, O'Donovan MC. Kirov G, et al. Among authors: zaharieva i. Mol Psychiatry. 2009 Aug;14(8):796-803. doi: 10.1038/mp.2008.33. Epub 2008 Mar 11. Mol Psychiatry. 2009. PMID: 18332876
Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population.
Betcheva ET, Mushiroda T, Takahashi A, Kubo M, Karachanak SK, Zaharieva IT, Vazharova RV, Dimova II, Milanova VK, Tolev T, Kirov G, Owen MJ, O'Donovan MC, Kamatani N, Nakamura Y, Toncheva DI. Betcheva ET, et al. Among authors: zaharieva it. J Hum Genet. 2009 Feb;54(2):98-107. doi: 10.1038/jhg.2008.14. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158809
Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
Yosifova A, Mushiroda T, Stoianov D, Vazharova R, Dimova I, Karachanak S, Zaharieva I, Milanova V, Madjirova N, Gerdjikov I, Tolev T, Velkova S, Kirov G, Owen MJ, O'Donovan MC, Toncheva D, Nakamura Y. Yosifova A, et al. Among authors: zaharieva i. J Affect Disord. 2009 Sep;117(1-2):87-97. doi: 10.1016/j.jad.2008.12.021. Epub 2009 Mar 28. J Affect Disord. 2009. PMID: 19328558
Genome-wide association study on bipolar disorder in the Bulgarian population.
Yosifova A, Mushiroda T, Kubo M, Takahashi A, Kamatani Y, Kamatani N, Stoianov D, Vazharova R, Karachanak S, Zaharieva I, Dimova I, Hadjidekova S, Milanova V, Madjirova N, Gerdjikov I, Tolev T, Poryazova N, O'Donovan MC, Owen MJ, Kirov G, Toncheva D, Nakamura Y. Yosifova A, et al. Among authors: zaharieva i. Genes Brain Behav. 2011 Oct;10(7):789-97. doi: 10.1111/j.1601-183X.2011.00721.x. Epub 2011 Aug 18. Genes Brain Behav. 2011. PMID: 21771265 Free article.
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.
Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P. Lourbakos A, et al. Among authors: zaharieva i. Sci Rep. 2017 Dec 20;7(1):17888. doi: 10.1038/s41598-017-17982-y. Sci Rep. 2017. PMID: 29263366 Free PMC article.
Copy number variation in schizophrenia in the Japanese population.
Ikeda M, Aleksic B, Kirov G, Kinoshita Y, Yamanouchi Y, Kitajima T, Kawashima K, Okochi T, Kishi T, Zaharieva I, Owen MJ, O'Donovan MC, Ozaki N, Iwata N. Ikeda M, et al. Among authors: zaharieva i. Biol Psychiatry. 2010 Feb 1;67(3):283-6. doi: 10.1016/j.biopsych.2009.08.034. Epub 2009 Oct 31. Biol Psychiatry. 2010. PMID: 19880096
93 results