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Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder.
Lin A, Vajdi A, Kushan-Wells L, Helleman G, Hansen LP, Jonas RK, Jalbrzikowski M, Kingsbury L, Raznahan A, Bearden CE. Lin A, et al. Among authors: kushan wells l. Biol Psychiatry. 2020 Aug 1;88(3):260-272. doi: 10.1016/j.biopsych.2019.12.028. Epub 2020 Jan 13. Biol Psychiatry. 2020. PMID: 32143830 Free PMC article.
Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.
Lin A, Ching CRK, Vajdi A, Sun D, Jonas RK, Jalbrzikowski M, Kushan-Wells L, Pacheco Hansen L, Krikorian E, Gutman B, Dokoru D, Helleman G, Thompson PM, Bearden CE. Lin A, et al. J Neurosci. 2017 Jun 28;37(26):6183-6199. doi: 10.1523/JNEUROSCI.3759-16.2017. Epub 2017 May 23. J Neurosci. 2017. PMID: 28536274 Free PMC article.
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium*. Guo T, et al. Circ Cardiovasc Genet. 2017 Oct;10(5):e001690. doi: 10.1161/CIRCGENETICS.116.001690. Circ Cardiovasc Genet. 2017. PMID: 29025761 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. Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028. Hum Mol Genet. 2018. PMID: 29361080 Free PMC article.
Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression.
Lin A, Forsyth JK, Hoftman GD, Kushan-Wells L, Jalbrzikowski M, Dokuru D, Coppola G, Fiksinski A, Zinkstok J, Vorstman J, Nachun D, Bearden CE. Lin A, et al. Among authors: kushan wells l. Brain Behav Immun Health. 2021 Nov 9;18:100386. doi: 10.1016/j.bbih.2021.100386. eCollection 2021 Dec. Brain Behav Immun Health. 2021. PMID: 34841284 Free PMC article.
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