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Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J; Solve-RD consortium; Ossowski S, Laurie S, Gilissen C. Wijngaard R, et al. Among authors: vitobello a. Eur J Hum Genet. 2024 Feb;32(2):248. doi: 10.1038/s41431-023-01492-9. Eur J Hum Genet. 2024. PMID: 37973950 Free PMC article. No abstract available.
Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors.
Luisier R, Lempiäinen H, Scherbichler N, Braeuning A, Geissler M, Dubost V, Müller A, Scheer N, Chibout SD, Hara H, Picard F, Theil D, Couttet P, Vitobello A, Grenet O, Grasl-Kraupp B, Ellinger-Ziegelbauer H, Thomson JP, Meehan RR, Elcombe CR, Henderson CJ, Wolf CR, Schwarz M, Moulin P, Terranova R, Moggs JG. Luisier R, et al. Among authors: vitobello a. Toxicol Sci. 2014 Jun;139(2):501-11. doi: 10.1093/toxsci/kfu038. Epub 2014 Apr 1. Toxicol Sci. 2014. PMID: 24690595
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: vitobello a. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
Xenobiotic CAR Activators Induce Dlk1-Dio3 Locus Noncoding RNA Expression in Mouse Liver.
Pouché L, Vitobello A, Römer M, Glogovac M, MacLeod AK, Ellinger-Ziegelbauer H, Westphal M, Dubost V, Stiehl DP, Dumotier B, Fekete A, Moulin P, Zell A, Schwarz M, Moreno R, Huang JTJ, Elcombe CR, Henderson CJ, Roland Wolf C, Moggs JG, Terranova R. Pouché L, et al. Among authors: vitobello a. Toxicol Sci. 2017 Aug 1;158(2):367-378. doi: 10.1093/toxsci/kfx104. Toxicol Sci. 2017. PMID: 28541575
131 results