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The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
White LK, Crowley TB, Finucane B, Garcia-Minaur S, Repetto GM, van den Bree M, Fischer M, Jacquemont S, Barzilay R, Maillard AM, Donald KA, Gur RE, Bassett AS, Swillen A, McDonald-McGinn DM. White LK, et al. J Intellect Disabil Res. 2022 Apr;66(4):313-322. doi: 10.1111/jir.12918. Epub 2022 Feb 21. J Intellect Disabil Res. 2022. PMID: 35191118 Free PMC article.
Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis.
Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur RC, Gur RE. Goldenberg PC, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):87-93. doi: 10.1002/ajmg.b.32005. Epub 2011 Dec 13. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22170773 Free PMC article.
Incidental radiologic findings in the 22q11.2 deletion syndrome.
Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE. Schmitt JE, et al. AJNR Am J Neuroradiol. 2014 Nov-Dec;35(11):2186-91. doi: 10.3174/ajnr.A4003. Epub 2014 Jun 19. AJNR Am J Neuroradiol. 2014. PMID: 24948496 Free PMC article.
Developmental trajectories in 22q11.2 deletion.
Swillen A, McDonald-McGinn D. Swillen A, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989227 Free PMC article. Review.
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Gross SJ, Stosic M, McDonald-McGinn DM, Bassett AS, Norvez A, Dhamankar R, Kobara K, Kirkizlar E, Zimmermann B, Wayham N, Babiarz JE, Ryan A, Jinnett KN, Demko Z, Benn P. Gross SJ, et al. Ultrasound Obstet Gynecol. 2016 Feb;47(2):177-83. doi: 10.1002/uog.15754. Epub 2016 Jan 5. Ultrasound Obstet Gynecol. 2016. PMID: 26396068 Free PMC article.
IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.
Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons H 4th, Moss E, Gur RE, Devoto M, Emanuel BS. Franconi CP, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1112-1115. doi: 10.1002/ajmg.b.32492. Epub 2016 Sep 13. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27619075 Free PMC article.
329 results