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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, Ophoff RA, Veltman JA. Friedman JI, et al. Among authors: edelmann l. Mol Psychiatry. 2008 Mar;13(3):261-6. doi: 10.1038/sj.mp.4002049. Epub 2007 Jul 24. Mol Psychiatry. 2008. PMID: 17646849
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.
Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD. Cai G, et al. Among authors: edelmann l. BMC Med Genomics. 2008 Oct 16;1:50. doi: 10.1186/1755-8794-1-50. BMC Med Genomics. 2008. PMID: 18925931 Free PMC article.
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD. McInnes LA, et al. Among authors: edelmann l. Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5. Mol Autism. 2010. PMID: 20678247 Free PMC article.
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Brandt T, et al. Among authors: edelmann l. Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4. Am J Med Genet A. 2012. PMID: 22488896
143 results