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Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies.
Egan CA, Marakovitz SE, O'Rourke JA, Osiecki L, Illmann C, Barton L, McLaughlin E, Proujansky R, Royal J, Cowley H, Rangel-Lugo M, Pauls DL, Scharf JM, Mathews CA; Tourette Syndrome Association International Consortium for Genetics. Egan CA, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):987-96. doi: 10.1002/ajmg.b.32107. Epub 2012 Oct 22. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23090870 Free PMC article.
The genetics of Tourette syndrome: a review.
O'Rourke JA, Scharf JM, Yu D, Pauls DL. O'Rourke JA, et al. J Psychosom Res. 2009 Dec;67(6):533-45. doi: 10.1016/j.jpsychores.2009.06.006. Epub 2009 Sep 30. J Psychosom Res. 2009. PMID: 19913658 Free PMC article. Review.
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. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
Toward an immune-mediated subtype of autism spectrum disorder.
McDougle CJ, Landino SM, Vahabzadeh A, O'Rourke J, Zurcher NR, Finger BC, Palumbo ML, Helt J, Mullett JE, Hooker JM, Carlezon WA Jr. McDougle CJ, et al. Brain Res. 2015 Aug 18;1617:72-92. doi: 10.1016/j.brainres.2014.09.048. Epub 2014 Nov 13. Brain Res. 2015. PMID: 25445995 Review.
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Margolin DH, et al. N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656588 Free PMC article.
Sensory symptoms in autism spectrum disorders.
Hazen EP, Stornelli JL, O'Rourke JA, Koesterer K, McDougle CJ. Hazen EP, et al. Harv Rev Psychiatry. 2014 Mar-Apr;22(2):112-24. doi: 10.1097/01.HRP.0000445143.08773.58. Harv Rev Psychiatry. 2014. PMID: 24614766 Review.
44 results