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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: schnabel f. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau.
Krey I, Ahting S, Forstner A, Korte M, Meyer R, Schnabel F, Pieh D, Karnstedt M. Krey I, et al. Among authors: schnabel f. Med Genet. 2023 Dec 5;35(4):327-330. doi: 10.1515/medgen-2023-2058. eCollection 2023 Dec. Med Genet. 2023. PMID: 38841543 German. No abstract available.
Natural history of adults with KBG syndrome: a physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Skjelmose Bolund AC, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: schnabel f. Genet Med. 2024 May 27:101170. doi: 10.1016/j.gim.2024.101170. Online ahead of print. Genet Med. 2024. PMID: 38818797
Effectiveness and toxicity of five-fraction prone accelerated partial breast irradiation.
Hardy-Abeloos C, Xiao J, Oh C, Barbee D, Shah B, Maisonet O, Perez C, Adams S, Schnabel F, Axelrod D, Guth A, Karp N, Cahlon O, Gerber N. Hardy-Abeloos C, et al. Among authors: schnabel f. Breast Cancer Res Treat. 2024 Apr;204(3):485-495. doi: 10.1007/s10549-023-07190-w. Epub 2024 Jan 6. Breast Cancer Res Treat. 2024. PMID: 38183516
126 results