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Page 1
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: glaze dg. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.
Kennedy M, Glass L, Glaze DG, Kaminsky S, Percy AK, Neul JL, Jones NE, Tropea D, Horrigan JP, Nues P, Bishop KM, Youakim JM. Kennedy M, et al. Among authors: glaze dg. Front Pharmacol. 2024 Jan 22;14:1341746. doi: 10.3389/fphar.2023.1341746. eCollection 2023. Front Pharmacol. 2024. PMID: 38318312 Free PMC article.
Distribution of hand function by age in individuals with Rett syndrome.
Neul JL, Benke TA, Marsh ED, Lane JB, Lieberman DN, Skinner SA, Glaze DG, Suter B, Heydemann PT, Beisang AA, Standridge SM, Ryther RCC, Haas RH, Edwards LJ, Ananth A, Percy AK. Neul JL, et al. Among authors: glaze dg. Ann Child Neurol Soc. 2023 Sep;1(3):228-238. doi: 10.1002/cns3.20038. Epub 2023 Sep 12. Ann Child Neurol Soc. 2023. PMID: 38496825 Free PMC article.
Parental age effects and Rett syndrome.
Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Fang X, et al. Among authors: glaze dg. Am J Med Genet A. 2024 Feb;194(2):160-173. doi: 10.1002/ajmg.a.63396. Epub 2023 Sep 28. Am J Med Genet A. 2024. PMID: 37768187
143 results