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Quantifying the Spectrum of Early Motor and Language Milestones in Sex Chromosome Trisomy.
Thompson T, Bothwell S, Janusz J, Wilson R, Howell S, Davis S, Swenson K, Martin S, Kowal K, Ikomi C, Despradel M, Ross J, Tartaglia N. Thompson T, et al. Among authors: bothwell s. medRxiv [Preprint]. 2024 Aug 19:2024.08.16.24312065. doi: 10.1101/2024.08.16.24312065. medRxiv. 2024. PMID: 39228733 Free PMC article. Preprint.
Research Priorities of Individuals and Families with Sex Chromosome Aneuploidies.
Carl A, Bothwell S, Farah F, Swenson K, Hong D, Prakash S, Strang J, Tartaglia N, Raznahan A, Ross J; INSIGHTS Consortium; GALAXY Consortium; Davis S. Carl A, et al. Among authors: bothwell s. medRxiv [Preprint]. 2024 Aug 16:2024.08.15.24312069. doi: 10.1101/2024.08.15.24312069. medRxiv. 2024. PMID: 39185520 Free PMC article. Preprint.
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Klamut N, et al. Among authors: bothwell s. Am J Med Genet A. 2024 Dec;194(12):e63819. doi: 10.1002/ajmg.a.63819. Epub 2024 Jul 17. Am J Med Genet A. 2024. PMID: 39016627
44 results