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Page 1
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. Among authors: bradshaw r. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Freud LR, et al. Among authors: bradshaw r. Am J Obstet Gynecol. 2024 Mar;230(3):368.e1-368.e12. doi: 10.1016/j.ajog.2023.09.005. Epub 2023 Sep 16. Am J Obstet Gynecol. 2024. PMID: 37717890
Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.
Del Fiol G, Madsen MJ, Bradshaw RL, Newman MG, Kaphingst KA, Tavtigian SV, Camp NJ. Del Fiol G, et al. Among authors: bradshaw rl. JCO Clin Cancer Inform. 2024 Nov;8:e2400142. doi: 10.1200/CCI-24-00142. Epub 2024 Nov 21. JCO Clin Cancer Inform. 2024. PMID: 39571109 Free PMC article.
Determinants of Breast Cancer Screening Adherence During the COVID-19 Pandemic in a Cohort at Increased Inherited Cancer Risk in the United States.
Harris A, Bather JR, Kawamoto K, Fiol GD, Bradshaw RL, Kaiser-Jackson L, Monahan R, Kohlmann W, Liu F, Ginsburg O, Goodman MS, Kaphingst KA. Harris A, et al. Among authors: bradshaw rl. Cancer Control. 2024 Jan-Dec;31:10732748241272727. doi: 10.1177/10732748241272727. Cancer Control. 2024. PMID: 39420801 Free PMC article.
Reach and Engagement With Population Health Management Interventions to Address COVID-19 Among Safety-Net Health Care Systems.
Schlechter CR, Kuzmenko TV, Orleans B, Wirth J, Kaphingst KA, Gibson B, Kawamoto K, Siaperas T, Pruhs A, Dinkins CP, Greene T, Zhang Y, Chipman JJ, Friedrichs M, Lam CY, Pierce JH, Borsato EP, Cornia RC, Stevens L, Martinez A, Bradshaw RL, Hess R, Fiol GD, Wetter DW. Schlechter CR, et al. Among authors: bradshaw rl. Am J Public Health. 2024 Nov;114(11):1207-1211. doi: 10.2105/AJPH.2024.307770. Am J Public Health. 2024. PMID: 39356994 Free PMC article.
545 results