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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: vogel fd. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.
GABAA receptor-mediated seizure liabilities: a mixed-methods screening approach.
Bampali K, Koniuszewski F, Vogel FD, Fabjan J, Andronis C, Lekka E, Virvillis V, Seidel T, Delaunois A, Royer L, Rolf MG, Giuliano C, Traebert M, Roussignol G, Fric-Bordat M, Mazelin-Winum L, Bryant SD, Langer T, Ernst M. Bampali K, et al. Among authors: vogel fd. Cell Biol Toxicol. 2023 Dec;39(6):2793-2819. doi: 10.1007/s10565-023-09803-y. Epub 2023 Apr 24. Cell Biol Toxicol. 2023. PMID: 37093397 Free PMC article.
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