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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: kirk se. 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
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Markovitz R, et al. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159722
Novel dose escalation to predict treatment with hydroxyurea (NDEPTH): A randomized controlled trial of a dose-prediction equation to determine maximum tolerated dose of hydroxyurea in pediatric sickle cell disease.
George A, Dinu B, Estrada N, Minard CG, Hurwitz R, Mahoney DH, Yates AM, Vaughan M, Carmouche A, Airewele G, Kirk SE, Fasipe T, Uwaezuoke P, Ware RE. George A, et al. Among authors: kirk se. Am J Hematol. 2020 Sep;95(9):E242-E244. doi: 10.1002/ajh.25883. Epub 2020 Jul 4. Am J Hematol. 2020. PMID: 32472611 Free article. Clinical Trial. No abstract available.
55 results