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Page 1
Genetic determinants of complement activation in the general population.
Noce D, Foco L, Orth-Höller D, König E, Barbieri G, Pietzner M, Ghasemi-Semeskandeh D, Coassin S, Fuchsberger C, Gögele M, Del Greco M F, De Grandi A, Summerer M, Wheeler E, Langenberg C, Lass-Flörl C, Pramstaller PP, Kronenberg F, Würzner R, Pattaro C. Noce D, et al. Among authors: konig e. Cell Rep. 2024 Jan 23;43(1):113611. doi: 10.1016/j.celrep.2023.113611. Epub 2023 Dec 29. Cell Rep. 2024. PMID: 38159276 Free article.
Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.
De Bortoli M, Meraviglia V, Mackova K, Frommelt LS, König E, Rainer J, Volani C, Benzoni P, Schlittler M, Cattelan G, Motta BM, Volpato C, Rauhe W, Barbuti A, Zacchigna S, Pramstaller PP, Rossini A. De Bortoli M, et al. Among authors: konig e. Comput Struct Biotechnol J. 2023 Feb 17;21:1759-1773. doi: 10.1016/j.csbj.2023.02.029. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36915380 Free PMC article.
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
König E, Volpato CB, Motta BM, Blankenburg H, Picard A, Pramstaller P, Casella M, Rauhe W, Pompilio G, Meraviglia V, Domingues FS, Sommariva E, Rossini A. König E, et al. BMC Med Genet. 2017 Dec 8;18(1):145. doi: 10.1186/s12881-017-0503-7. BMC Med Genet. 2017. PMID: 29221435 Free PMC article.
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease.
König E, Nicoletti A, Pattaro C, Annesi G, Melotti R, Gialluisi A, Schwienbacher C, Picard A, Blankenburg H, Pichler I, Modugno N, Ciullo M, Esposito T, Domingues FS, Hicks AA, Zappia M, Pramstaller PP. König E, et al. Sci Rep. 2021 Oct 1;11(1):19582. doi: 10.1038/s41598-021-99393-8. Sci Rep. 2021. PMID: 34599261 Free PMC article.
Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy.
Sommariva E, Stadiotti I, Casella M, Catto V, Dello Russo A, Carbucicchio C, Arnaboldi L, De Metrio S, Milano G, Scopece A, Casaburo M, Andreini D, Mushtaq S, Conte E, Chiesa M, Birchmeier W, Cogliati E, Paolin A, König E, Meraviglia V, De Musso M, Volani C, Cattelan G, Rauhe W, Turnu L, Porro B, Pedrazzini M, Camera M, Corsini A, Tondo C, Rossini A, Pompilio G. Sommariva E, et al. Among authors: konig e. EMBO Mol Med. 2021 Sep 7;13(9):e14365. doi: 10.15252/emmm.202114365. Epub 2021 Aug 2. EMBO Mol Med. 2021. PMID: 34337880 Free PMC article.
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP. Domingues FS, et al. Among authors: konig e. Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23. Seizure. 2019. PMID: 30818181 Free article.
Dintor: functional annotation of genomic and proteomic data.
Weichenberger CX, Blankenburg H, Palermo A, D'Elia Y, König E, Bernstein E, Domingues FS. Weichenberger CX, et al. Among authors: konig e. BMC Genomics. 2015 Dec 21;16:1081. doi: 10.1186/s12864-015-2279-5. BMC Genomics. 2015. PMID: 26691694 Free PMC article.