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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA 3rd, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Dharmadhikari AV, et al. Among authors: vinson ss. Hum Mol Genet. 2012 Aug 1;21(15):3345-55. doi: 10.1093/hmg/dds166. Epub 2012 Apr 27. Hum Mol Genet. 2012. PMID: 22543972 Free PMC article.
Novel EED mutation in patient with Weaver syndrome.
Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L. Cooney E, et al. Am J Med Genet A. 2017 Feb;173(2):541-545. doi: 10.1002/ajmg.a.38055. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868325
Long-term outcomes of children with symptomatic congenital cytomegalovirus disease.
Lanzieri TM, Leung J, Caviness AC, Chung W, Flores M, Blum P, Bialek SR, Miller JA, Vinson SS, Turcich MR, Voigt RG, Demmler-Harrison G. Lanzieri TM, et al. Among authors: vinson ss. J Perinatol. 2017 Jul;37(7):875-880. doi: 10.1038/jp.2017.41. Epub 2017 Apr 6. J Perinatol. 2017. PMID: 28383538 Free PMC article.
Intelligence and Academic Achievement With Asymptomatic Congenital Cytomegalovirus Infection.
Lopez AS, Lanzieri TM, Claussen AH, Vinson SS, Turcich MR, Iovino IR, Voigt RG, Caviness AC, Miller JA, Williamson WD, Hales CM, Bialek SR, Demmler-Harrison G; Congenital Cytomegalovirus Longitudinal Study Group. Lopez AS, et al. Among authors: vinson ss. Pediatrics. 2017 Nov;140(5):e20171517. doi: 10.1542/peds.2017-1517. Pediatrics. 2017. PMID: 29066580 Free PMC article.
Middle Ear Effusion in Children With Congenital Cytomegalovirus Infection.
Chung W, Leung J, Lanzieri TM, Blum P, Demmler-Harrison G; Congenital Cytomegalovirus Longitudinal Study Group. Chung W, et al. Pediatr Infect Dis J. 2020 Apr;39(4):273-276. doi: 10.1097/INF.0000000000002564. Pediatr Infect Dis J. 2020. PMID: 31876611 Free PMC article.
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G; FXS-001 Investigators; Glass L, Jones NE. Berry-Kravis E, et al. Pediatr Neurol. 2020 Sep;110:30-41. doi: 10.1016/j.pediatrneurol.2020.04.019. Epub 2020 May 23. Pediatr Neurol. 2020. PMID: 32660869 Free article. Clinical Trial.