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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. Among authors: lieberman d. 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.
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: lieberman dn. 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.
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.
Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE. Stallworth JL, et al. Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3. Neurology. 2019. PMID: 31053667 Free PMC article. Clinical Trial.
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. Among authors: lieberman d. 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: lieberman dn. 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: lieberman d. 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: lieberman dn. 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.
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Motil KJ, Geerts S, Annese F, Neul JL, Benke T, Marsh E, Lieberman D, Skinner SA, Glaze DG, Heydemann P, Beisang A, Standridge S, Ryther R, Lane JB, Edwards L, Percy AK. Motil KJ, et al. Among authors: lieberman d. J Pediatr. 2022 May;244:169-177.e3. doi: 10.1016/j.jpeds.2022.01.009. Epub 2022 Jan 19. J Pediatr. 2022. PMID: 35063470 Free PMC article.
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Fang X, et al. Among authors: lieberman dn. Mol Genet Genomic Med. 2022 May;10(5):e1917. doi: 10.1002/mgg3.1917. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318820 Free PMC article.
975 results