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Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Shen Y, et al. Among authors: picker j. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.
Chromosomal microarray testing influences medical management.
Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Coulter ME, et al. Among authors: picker j. Genet Med. 2011 Sep;13(9):770-6. doi: 10.1097/GIM.0b013e31821dd54a. Genet Med. 2011. PMID: 21716121 Free article.
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Srivastava S, et al. Among authors: picker j. Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.
74 results