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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.
Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Huang SD, et al. Among authors: bothwell s. medRxiv [Preprint]. 2023 Jul 23:2023.07.19.23292889. doi: 10.1101/2023.07.19.23292889. medRxiv. 2023. Update in: Am J Med Genet A. 2024 Apr;194(4):e63495. doi: 10.1002/ajmg.a.63495 PMID: 37502850 Free PMC article. Updated. Preprint.
43 results