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Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D. Pérez-Palma E, et al. J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29. J Med Genet. 2017. PMID: 28756411 Free PMC article.
Duplications at 19q13.33 in patients with neurodevelopmental disorders.
Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D. Pérez-Palma E, et al. Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473046 Free PMC article.
Spectrum of GABAA receptor variants in epilepsy.
Maljevic S, Møller RS, Reid CA, Pérez-Palma E, Lal D, May P, Lerche H. Maljevic S, et al. Curr Opin Neurol. 2019 Apr;32(2):183-190. doi: 10.1097/WCO.0000000000000657. Curr Opin Neurol. 2019. PMID: 30664068 Review.
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network; Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Kelly M, et al. Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25. Epilepsia. 2019. PMID: 30682224 Free PMC article.
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A, Hinz S, Burmeister G, von Schönfels W, Schafmayer C, Völzke H, Völker U, Homuth G, Lerch MM, Santos JL, Puschel K, Bambs C, Roa JC, Gutiérrez RA, Hampe J, De Ferrari GV, Miquel JF. Bustos BI, et al. Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z. Sci Rep. 2019. PMID: 30692554 Free PMC article.
Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, Blümcke I, Lal D. Niestroj LM, et al. Eur J Hum Genet. 2019 Nov;27(11):1738-1744. doi: 10.1038/s41431-019-0484-4. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358956 Free PMC article.
Copy number variants in lipid metabolism genes are associated with gallstones disease in men.
Pérez-Palma E, Bustos BI, Lal D, Buch S, Azocar L, Toliat MR, Lieb W, Franke A, Hinz S, Burmeister G, von Shönfels W, Schafmayer C, Ahnert P, Völzke H, Völker U, Homuth G, Lerch MM, Puschel K, Gutiérrez RA, Hampe J, Nürnberg P, Miquel JF, De Ferrari GV. Pérez-Palma E, et al. Eur J Hum Genet. 2020 Feb;28(2):264-273. doi: 10.1038/s41431-019-0501-7. Epub 2019 Sep 4. Eur J Hum Genet. 2020. PMID: 31485028 Free PMC article.
47 results