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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. Among authors: crowley tb. 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.
Association of airway abnormalities with 22q11.2 deletion syndrome.
Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM. Sacca R, et al. Among authors: crowley tb. Int J Pediatr Otorhinolaryngol. 2017 May;96:11-14. doi: 10.1016/j.ijporl.2017.02.012. Epub 2017 Feb 21. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28390597
T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.
Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D. Sullivan KE, et al. Among authors: crowley tb. J Allergy Clin Immunol Pract. 2018 Mar-Apr;6(2):690-691. doi: 10.1016/j.jaip.2017.08.028. Epub 2017 Sep 28. J Allergy Clin Immunol Pract. 2018. PMID: 28964704 Free PMC article. No abstract available.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. PMID: 28965848 Free PMC article. Retracted.
Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
Benn P, Iyengar S, Crowley TB, Zackai EH, Burrows EK, Moshkevich S, McDonald-McGinn DM, Sullivan KE, Demko Z. Benn P, et al. Among authors: crowley tb. Mol Genet Genomic Med. 2017 Nov;5(6):631-638. doi: 10.1002/mgg3.310. Epub 2017 Aug 12. Mol Genet Genomic Med. 2017. PMID: 29178641 Free PMC article.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia. Guo T, et al. Among authors: crowley tb. Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028. Hum Mol Genet. 2018. PMID: 29361080 Free PMC article.
78 results