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126 results

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Page 1
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: skotko bg. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid type 1 effectiveness-implementation cluster randomized trial.
Levison JH, Krane D, Donelan K, Aschbrenner K, Trieu HD, Chau C, Wilson A, Oreskovic NM, Irwin K, Iezzoni LI, Xie H, Samuels R, Silverman P, Batson J, Fathi A, Gamse S, Holland S, Wolfe J, Shellenberger K, Cella E, Bird B, Skotko BG, Bartels S. Levison JH, et al. Among authors: skotko bg. Contemp Clin Trials. 2023 Feb;125:107053. doi: 10.1016/j.cct.2022.107053. Epub 2022 Dec 17. Contemp Clin Trials. 2023. PMID: 36539061 Free PMC article.
COVID-19-Related Outcomes Among Group Home Residents with Serious Mental Illness in Massachusetts in the First Year of the Pandemic.
Fung V, Levison JH, Wilson A, Cheng D, Chau C, Krane D, Trieu HD, Irwin K, Cella E, Bird B, Shellenberger K, Silverman P, Batson J, Fathi A, Gamse S, Wolfe J, Holland S, Donelan K, Samuels R, Becker JE, Freedberg KA, Reichman JL, Keller T, Tsai AC, Hsu J, Skotko BG, Bartels S. Fung V, et al. Among authors: skotko bg. Adm Policy Ment Health. 2024 Jan;51(1):60-68. doi: 10.1007/s10488-023-01311-9. Epub 2023 Nov 8. Adm Policy Ment Health. 2024. PMID: 37938475 Free PMC article.
Health in Down syndrome: creating a conceptual model.
Santoro SL, Cabrera MJ, Co JPT, Constantine M, Haugen K, Krell K, Skotko BG, Winickoff JP, Donelan K. Santoro SL, et al. Among authors: skotko bg. J Intellect Disabil Res. 2023 Apr;67(4):323-351. doi: 10.1111/jir.13007. Epub 2023 Jan 17. J Intellect Disabil Res. 2023. PMID: 36650105 Free PMC article.
Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.
Meredith S, Brackett S, Diaz KM, Freeman KG, Huggins E, Khan H, Leach MW, Levitz M, Michie M, Onufer J, Skotko BG, Smith L, Nicole White A, Waller T, Ayers K; Prenatal Subcommittee of the Center for Dignity in Healthcare for People with Disabilities. Meredith S, et al. Among authors: skotko bg. Disabil Health J. 2023 Apr;16(2):101401. doi: 10.1016/j.dhjo.2022.101401. Epub 2022 Nov 5. Disabil Health J. 2023. PMID: 36463093
Designing an international survey for organisations serving people with Down syndrome.
Kats DJ, Skotko BG, de Graaf G, Skladzien E, Hooper BT, Mordi R, Mykhailenko T, Buckley F, Patsiogiannis V, Krell K, Haugen K, Donelan K. Kats DJ, et al. Among authors: skotko bg. J Appl Res Intellect Disabil. 2023 May;36(3):497-506. doi: 10.1111/jar.13071. Epub 2023 Jan 19. J Appl Res Intellect Disabil. 2023. PMID: 36655393
126 results