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22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
Age-Related Parkinsonian Signs in Microdeletion 22q11.2.
Boot E, Mentzel TQ, Palmer LD, van Harten PN, Marras C, Lang AE, Bassett AS. Boot E, et al. Mov Disord. 2020 Jul;35(7):1239-1245. doi: 10.1002/mds.28080. Epub 2020 May 9. Mov Disord. 2020. PMID: 32386091 Free PMC article.
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Palmer LD, Butcher NJ, Boot E, Hodgkinson KA, Heung T, Chow EWC, Guna A, Crowley TB, Zackai E, McDonald-McGinn DM, Bassett AS. Palmer LD, et al. Am J Med Genet A. 2018 Apr;176(4):936-944. doi: 10.1002/ajmg.a.38645. Am J Med Genet A. 2018. PMID: 29575622 Free PMC article.
A genetic model for multimorbidity in young adults.
Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral M, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS. Malecki SL, et al. Genet Med. 2020 Jan;22(1):132-141. doi: 10.1038/s41436-019-0603-1. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363180 Free article.