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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, Bi W, Howe J, Stavropoulos DJ, Hansen AW, Hamoda HM, Pinard F, Caracansi A, Walsh CA, D'Angelo EJ, Beggs AH, Zarrei M, Gibbs RA, Scherer SW, Glahn DC, Gonzalez-Heydrich J. Brownstein CA, et al. Among authors: garvey ea. Mol Psychiatry. 2021 May;26(5):1706-1718. doi: 10.1038/s41380-021-01035-y. Epub 2021 Feb 17. Mol Psychiatry. 2021. PMID: 33597717 Free PMC article.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. Li J, et al. Among authors: garvey ea. J Med Internet Res. 2021 Mar 16;23(3):e21023. doi: 10.2196/21023. J Med Internet Res. 2021. PMID: 33724192 Free PMC article.
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.
Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, Deaso E, Agrawal PB, Beggs AH, D'Angelo E, Almasy L, Alexander-Bloch A, Saci Z, Moreau CA, Huguet G, Deo AJ, Jacquemont S, Glahn DC, Gonzalez-Heydrich J. Brownstein CA, et al. Am J Psychiatry. 2022 Nov 1;179(11):853-861. doi: 10.1176/appi.ajp.21111175. Epub 2022 Aug 24. Am J Psychiatry. 2022. PMID: 36000218 Free PMC article.
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