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Page 1
Opportunities, barriers, and recommendations in down syndrome research.
Hendrix JA, Amon A, Abbeduto L, Agiovlasitis S, Alsaied T, Anderson HA, Bain LJ, Baumer N, Bhattacharyya A, Bogunovic D, Botteron KN, Capone G, Chandan P, Chase I, Chicoine B, Cieuta-Walti C, DeRuisseau LR, Durand S, Esbensen A, Fortea J, Giménez S, Granholm AC, Hahn LJ, Head E, Hillerstrom H, Jacola LM, Janicki MP, Jasien JM, Kamer AR, Kent RD, Khor B, Lawrence JB, Lemonnier C, Lewanda AF, Mobley W, Moore PE, Nelson LP, Oreskovic NM, Osorio RS, Patterson D, Rasmussen SA, Reeves RH, Roizen N, Santoro S, Sherman SL, Talib N, Tapia IE, Walsh KM, Warren SF, White AN, Wong GW, Yi JS. Hendrix JA, et al. Among authors: oreskovic nm. Transl Sci Rare Dis. 2021;5(3-4):99-129. doi: 10.3233/trd-200090. Epub 2021 Apr 15. Transl Sci Rare Dis. 2021. PMID: 34268067 Free PMC article.
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: oreskovic nm. Genet Med. 2020 Apr;22(4):767-776. doi: 10.1038/s41436-019-0706-8. Epub 2019 Nov 26. Genet Med. 2020. PMID: 31767984 Free article.
Physical activity patterns in adults with Down Syndrome.
Oreskovic NM, Cottrell C, Torres A, Patsiogiannis V, Santoro S, Nichols D, Moore C, Skotko BG. Oreskovic NM, et al. J Appl Res Intellect Disabil. 2020 Nov;33(6):1457-1464. doi: 10.1111/jar.12773. Epub 2020 Jul 13. J Appl Res Intellect Disabil. 2020. PMID: 32662165
Piloting the use of global health measures in a Down syndrome clinic.
Santoro SL, Campbell A, Cottrell C, Donelan K, Majewski B, Oreskovic NM, Patsiogiannis V, Torres A, Skotko BG. Santoro SL, et al. Among authors: oreskovic nm. J Appl Res Intellect Disabil. 2021 Jul;34(4):1108-1117. doi: 10.1111/jar.12866. Epub 2021 Mar 23. J Appl Res Intellect Disabil. 2021. PMID: 33759305 Free PMC article.
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: oreskovic nm. Am J Med Genet A. 2022 Oct;188(10):3049-3062. doi: 10.1002/ajmg.a.62922. Epub 2022 Aug 4. Am J Med Genet A. 2022. PMID: 35924793
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
Oreskovic NM, Baumer NT, Di Camillo C, Cornachia M, Franklin C, Hart SJ, Kishnani PS, McCormick A, Milliken AL, Patsiogiannis V, Pawlowski KG, Santoro SL, Sargado S, Scoppola V, Torres A, Valentini D, Vellody K, Villani A, Skotko BG. Oreskovic NM, et al. Am J Med Genet A. 2023 Mar;191(3):813-822. doi: 10.1002/ajmg.a.63088. Epub 2022 Dec 20. Am J Med Genet A. 2023. PMID: 36538912
Response to Letter to the Editor by Palffy and Ghaziuddin.
Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: oreskovic nm. Am J Med Genet A. 2023 May;191(5):1470-1473. doi: 10.1002/ajmg.a.63116. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36609854 No abstract available.
57 results