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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: myers sm. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. Moreno-De-Luca A, et al. Among authors: myers sm. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147. JAMA Psychiatry. 2015. PMID: 25493922
Insufficient Evidence for "Autism-Specific" Genes.
Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. Myers SM, et al. Am J Hum Genet. 2020 May 7;106(5):587-595. doi: 10.1016/j.ajhg.2020.04.004. Epub 2020 Apr 30. Am J Hum Genet. 2020. PMID: 32359473 Free PMC article. Review.
Response to Buxbaum et al.
Myers SM, Challman TD, Martin CL, Ledbetter DH. Myers SM, et al. Am J Hum Genet. 2020 Nov 5;107(5):1004. doi: 10.1016/j.ajhg.2020.09.012. Am J Hum Genet. 2020. PMID: 33157005 Free PMC article. No abstract available.
125 results