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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30.
Genet Med. 2021.
PMID: 34054129
Free PMC article.
CNS myelin protein 36K regulates oligodendrocyte differentiation through Notch.
Nagarajan B, Harder A, Japp A, Häberlein F, Mingardo E, Kleinert H, Yilmaz Ö, Zoons A, Rau B, Christ A, Kubitscheck U, Eiberger B, Sandhoff R, Eckhardt M, Hartmann D, Odermatt B.
Nagarajan B, et al. Among authors: mingardo e.
Glia. 2020 Mar;68(3):509-527. doi: 10.1002/glia.23732. Epub 2019 Nov 8.
Glia. 2020.
PMID: 31702067
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Humanized zebrafish as a tractable tool for in vivo evaluation of pro-myelinating drugs.
Häberlein F, Mingardo E, Merten N, Schulze Köhling NK, Reinoß P, Simon K, Japp A, Nagarajan B, Schrage R, Pegurier C, Gillard M, Monk KR, Odermatt B, Kostenis E, Gomeza J.
Häberlein F, et al. Among authors: mingardo e.
Cell Chem Biol. 2022 Oct 20;29(10):1541-1555.e7. doi: 10.1016/j.chembiol.2022.08.007. Epub 2022 Sep 19.
Cell Chem Biol. 2022.
PMID: 36126653
Free article.
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC.
Stegmann JD, et al. Among authors: mingardo e.
NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9.
NPJ Genom Med. 2024.
PMID: 38429302
Free PMC article.
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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H.
Köllges R, et al. Among authors: mingardo e.
Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117.
Biomolecules. 2023.
PMID: 37509153
Free PMC article.
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Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells.
Enders M, Weier A, Chunder R, An Y, Bremm F, Feigenspan A, Buettner C, Ekici AB, Mingardo E, Odermatt B, Kuerten S.
Enders M, et al. Among authors: mingardo e.
Int J Mol Sci. 2023 Feb 13;24(4):3716. doi: 10.3390/ijms24043716.
Int J Mol Sci. 2023.
PMID: 36835129
Free PMC article.
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H.
Mingardo E, et al.
Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3.
Commun Biol. 2022.
PMID: 36352089
Free PMC article.
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