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Page 1
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: benke ta. 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
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: benke ta. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30536762 Free PMC article.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Peters SU, et al. Among authors: benke ta. Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15. Clin Genet. 2019. PMID: 30788845 Free PMC article.
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Among authors: benke ta. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
Consensus guidelines on managing Rett syndrome across the lifespan.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Fu C, et al. BMJ Paediatr Open. 2020 Sep 13;4(1):e000717. doi: 10.1136/bmjpo-2020-000717. eCollection 2020. BMJ Paediatr Open. 2020. PMID: 32984552 Free PMC article.
Multisystem comorbidities in classic Rett syndrome: a scoping review.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Fu C, et al. BMJ Paediatr Open. 2020 Sep 22;4(1):e000731. doi: 10.1136/bmjpo-2020-000731. eCollection 2020. BMJ Paediatr Open. 2020. PMID: 33024833 Free PMC article. Review.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Peters SU, et al. Among authors: benke ta. Am J Med Genet A. 2021 Feb;185(2):362-369. doi: 10.1002/ajmg.a.61956. Epub 2020 Nov 10. Am J Med Genet A. 2021. PMID: 33170557 Free PMC article.
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL. Raspa M, et al. Among authors: benke ta. Am J Intellect Dev Disabil. 2020 Nov 1;125(6):493-509. doi: 10.1352/1944-7558-125.6.493. Am J Intellect Dev Disabil. 2020. PMID: 33211820 Free PMC article.
Multisite Study of Evoked Potentials in Rett Syndrome.
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Saby JN, et al. Among authors: benke ta. Ann Neurol. 2021 Apr;89(4):790-802. doi: 10.1002/ana.26029. Epub 2021 Feb 4. Ann Neurol. 2021. PMID: 33480039 Free PMC article.
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.
Saldaris J, Weisenberg J, Pestana-Knight E, Marsh ED, Suter B, Rajaraman R, Heidary G, Olson HE, Devinsky O, Price D, Jacoby P, Leonard H, Benke TA, Demarest S, Downs J. Saldaris J, et al. Among authors: benke ta. J Child Neurol. 2021 Oct;36(11):998-1006. doi: 10.1177/08830738211019576. Epub 2021 Aug 11. J Child Neurol. 2021. PMID: 34378447 Free PMC article.
106 results