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Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case study.
Takahashi E, Allan N, Peres R, Ortug A, van der Kouwe AJW, Valli B, Ethier E, Levman J, Baumer N, Tsujimura K, Vargas-Maya NI, McCracken TA, Lee R, Maunakea AK. Takahashi E, et al. Front Neurosci. 2023 Feb 3;16:1023665. doi: 10.3389/fnins.2022.1023665. eCollection 2022. Front Neurosci. 2023. PMID: 36817099 Free PMC article.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J, Sharr C, Ozonoff A, Prock LA, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McCannon JB, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2015 Nov;167A(11):2520-6. doi: 10.1002/ajmg.a.37267. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26249752
Detecting celiac disease in patients with Down syndrome.
Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Sharr C, et al. Am J Med Genet A. 2016 Dec;170(12):3098-3105. doi: 10.1002/ajmg.a.37879. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605215
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Lavigne J, et al. Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332275
Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey.
Hüls A, Costa ACS, Dierssen M, Baksh RA, Bargagna S, Baumer NT, Brandão AC, Carfi A, Carmona-Iragui M, Chicoine BA, Ghosh S, Lakhanpaul M, Manso C, Mayer MA, Ortega MDC, de Asua DR, Rebillat AS, Russell LA, Sgandurra G, Valentini D, Sherman SL, Strydom A; T21RS COVID-19 Initiative. Hüls A, et al. Among authors: baumer nt. EClinicalMedicine. 2021 Mar;33:100769. doi: 10.1016/j.eclinm.2021.100769. Epub 2021 Feb 22. EClinicalMedicine. 2021. PMID: 33644721 Free PMC article.
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. 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.
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.
Emes D, Hüls A, Baumer N, Dierssen M, Puri S, Russell L, Sherman SL, Strydom A, Bargagna S, Brandão AC, Costa ACS, Feany PT, Chicoine BA, Ghosh S, Rebillat AS, Sgandurra G, Valentini D, Rohrer TR, Levin J, Lakhanpaul M, On Behalf Of The Trisomy Research Society Covid-Initiative Study Group. Emes D, et al. J Clin Med. 2021 Oct 31;10(21):5125. doi: 10.3390/jcm10215125. J Clin Med. 2021. PMID: 34768645 Free PMC article.
39 results