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MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. Ananth A, et al. Among authors: benke t. Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30. Pediatr Neurol. 2024. PMID: 39476560
Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study.
Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK; Rett syndrome Natural History Study Group. Neul JL, et al. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2566253. doi: 10.21203/rs.3.rs-2566253/v1. Res Sq. 2023. Update in: J Neurodev Disord. 2023 Oct 13;15(1):33. doi: 10.1186/s11689-023-09502-z PMID: 36993737 Free PMC article. Updated. Preprint.
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: benke ta. 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.
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Abbott M, et al. Am J Med Genet A. 2024 Oct;194(10):e63725. doi: 10.1002/ajmg.a.63725. Epub 2024 May 22. Am J Med Genet A. 2024. PMID: 38775384
311 results