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Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.
Hoffmann L, Coras R, Kobow K, López-Rivera JA, Lal D, Leu C, Najm I, Nürnberg P, Herms J, Harter PN, Bien CG, Kalbhenn T, Müller M, Pieper T, Hartlieb T, Kudernatsch M, Hamer H, Brandner S, Rössler K, Blümcke I, Jabari S. Hoffmann L, et al. Among authors: lal d. Acta Neuropathol. 2023 Jun;145(6):815-827. doi: 10.1007/s00401-023-02561-5. Epub 2023 Mar 27. Acta Neuropathol. 2023. PMID: 36973520 Free PMC article.
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium; Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: lal d. Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3. Epilepsia. 2014. PMID: 24995671 Free 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. Among authors: lal d. Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473046 Free PMC article.
Variant Score Ranker-a web application for intuitive missense variant prioritization.
Du J, Sudarsanam M, Pérez-Palma E, Ganna A, Francioli L, Iqbal S, Niestroj LM, Leu C, Weisburd B, Poterba T, Nürnberg P, Daly MJ, Palotie A, May P, Lal D. Du J, et al. Among authors: lal d. Bioinformatics. 2019 Nov 1;35(21):4478-4479. doi: 10.1093/bioinformatics/btz252. Bioinformatics. 2019. PMID: 31086968
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. Among authors: lal d. 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.
Identification of pathogenic variant enriched regions across genes and gene families.
Pérez-Palma E, May P, Iqbal S, Niestroj LM, Du J, Heyne HO, Castrillon JA, O'Donnell-Luria A, Nürnberg P, Palotie A, Daly M, Lal D. Pérez-Palma E, et al. Among authors: lal d. Genome Res. 2020 Jan;30(1):62-71. doi: 10.1101/gr.252601.119. Epub 2019 Dec 23. Genome Res. 2020. PMID: 31871067 Free PMC article.
526 results