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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: suter b. 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: suter b. 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.
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: suter b. 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. Among authors: suter b. 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.
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: suter b. 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.
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A. Olson HE, et al. Among authors: suter b. J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z. J Neurodev Disord. 2021. PMID: 34530725 Free PMC article.
204 results