Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW: Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992, 42: 141-142. 10.1002/ajmg.1320420131.
Article
CAS
PubMed
Google Scholar
Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, et al: Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A. 2005, 138: 307-313.
Article
PubMed
PubMed Central
Google Scholar
Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, et al: Large recurrent microdeletions associated with schizophrenia. Nature. 2008, 455: 232-236. 10.1038/nature07229.
Article
CAS
PubMed
PubMed Central
Google Scholar
International Schizophrenia Consortium: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008, 455: 237-241. 10.1038/nature07239.
Article
Google Scholar
Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C: Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil. 2009, 30: 763-773. 10.1016/j.ridd.2008.10.007.
Article
PubMed
Google Scholar
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, et al: Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes. N Engl J Med. 2008, 359: 1685-1699. 10.1056/NEJMoa0805384.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sebat J, Levy DL, McCarthy SE: Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends in Genetics. 2009, 25: 528-535. 10.1016/j.tig.2009.10.004.
Article
CAS
PubMed
PubMed Central
Google Scholar
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genet. 2009, 41: 160-162. 10.1038/ng.292.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, et al: A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009, 41: 1269-1271. 10.1038/ng.481.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rodriguez-Santiago B, Brunet A, Sobrino B, Serra-Juhe C, Flores R, Armengol L, et al: Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry. 2010, 15: 1023-1033. 10.1038/mp.2009.53.
Article
CAS
PubMed
Google Scholar
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, et al: Microduplications of 16p11.2 are associated with schizophrenia. Nature Genet. 2009, 41: 1223-1227. 10.1038/ng.474.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St CD, et al: Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet. 2010, 19: 3477-3481. 10.1093/hmg/ddq259.
Article
CAS
PubMed
Google Scholar
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, et al: Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010, 87: 229-236. 10.1016/j.ajhg.2010.07.013.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, et al: Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry. 2011, 168: 408-417. 10.1176/appi.ajp.2010.09111660.
Article
PubMed
PubMed Central
Google Scholar
Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, et al: Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008, 17: 628-638.
Article
CAS
PubMed
Google Scholar
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, et al: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008, 358: 667-675. 10.1056/NEJMoa075974.
Article
CAS
PubMed
Google Scholar
Makikyro T, Karvonen JT, Hakko H, Nieminen P, Joukamaa M, Isohanni M, et al: Comorbidity of hospital-treated psychiatric and physical disorders with special reference to schizophrenia: a 28 year follow-up of the 1966 northern Finland general population birth cohort. Public Health. 1998, 112: 221-228.
CAS
PubMed
Google Scholar
Sanders AR, Levinson DF, Duan J, Dennis JM, Li R, Kendler KS, et al: The Internet-based MGS2 control sample: self report of mental illness. Am J Psychiatry. 2010, 167: 854-865. 10.1176/appi.ajp.2010.09071050.
Article
PubMed
Google Scholar
Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, et al: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry. 2011, 168: 302-316. 10.1176/appi.ajp.2010.10060876.
Article
PubMed
PubMed Central
Google Scholar
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al: Global variation in copy number in the human genome. Nature. 2006, 444: 444-454. 10.1038/nature05329.
Article
CAS
PubMed
PubMed Central
Google Scholar
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, et al: Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature. 2010, 464: 713-720. 10.1038/nature08979.
Article
CAS
PubMed
Google Scholar
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, et al: Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010, 31: 1326-1342. 10.1002/humu.21360.
Article
PubMed
PubMed Central
Google Scholar
Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, et al: Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008, 10: 278-289. 10.1097/GIM.0b013e31816b4420.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, et al: Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004, 41: 113-119. 10.1136/jmg.2003.012831.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, et al: Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005, 7: 422-432. 10.1097/01.GIM.0000170992.63691.32.
Article
PubMed
Google Scholar
Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, et al: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE. 2007, 2: e327-10.1371/journal.pone.0000327.
Article
PubMed
PubMed Central
Google Scholar
Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, Pietilainen OP, et al: Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry. 2011, 16: 17-25. 10.1038/mp.2009.101.
Article
CAS
PubMed
Google Scholar
Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, et al: Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics. 2009, 52: 94-100. 10.1016/j.ejmg.2009.02.006.
Article
PubMed
Google Scholar
Teltsh O, Kanyas K, Karni O, Levi A, Korner M, Ben-Asher E, et al: Genome-wide linkage scan, fine mapping, and haplotype analysis in a large, inbred, Arab Israeli pedigree suggest a schizophrenia susceptibility locus on chromosome 20p13. Am J Med Genet B Neuropsychiatr Genet. 2008, 147B: 209-215. 10.1002/ajmg.b.30591.
Article
CAS
PubMed
Google Scholar
Fanous AH, Neale MC, Webb BT, Straub RE, O'Neill FA, Walsh D, et al: Novel linkage to chromosome 20p using latent classes of psychotic illness in 270 Irish high-density families. Biol Psychiatry. 2008, 64: 121-127. 10.1016/j.biopsych.2007.11.023.
Article
CAS
PubMed
Google Scholar
Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N, Geller F, et al: Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet. 2010, 42: 448-453. 10.1038/ng.573.
Article
CAS
PubMed
PubMed Central
Google Scholar
Durner M, Zhou G, Fu D, Abreu P, Shinnar S, Resor SR, et al: Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. Am J Hum Genet. 1999, 64: 1411-1419. 10.1086/302371.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ohnuma T, Kato H, Arai H, Faull RL, McKenna PJ, Emson PC: Gene expression of PSD95 in prefrontal cortex and hippocampus in schizophrenia. NeuroReport. 2000, 11: 3133-3137. 10.1097/00001756-200009280-00019.
Article
CAS
PubMed
Google Scholar
Kristiansen LV, Beneyto M, Haroutunian V, Meador-Woodruff JH: Changes in NMDA receptor subunits and interacting PSD proteins in dorsolateral prefrontal and anterior cingulate cortex indicate abnormal regional expression in schizophrenia. Mol Psychiatry. 2006, 11: 737-47. 10.1038/sj.mp.4001844. 705
Article
CAS
PubMed
Google Scholar
Liu FY, Wang XF, Li MW, Li JM, Xi ZQ, Luan GM, et al: Upregulated expression of postsynaptic density-93 and N-methyl-D-aspartate receptors subunits 2B mRNA in temporal lobe tissue of epilepsy. Biochem Biophys Res Commun. 2007, 358: 825-830. 10.1016/j.bbrc.2007.05.010.
Article
CAS
PubMed
Google Scholar
Hammond JC, McCullumsmith RE, Funk AJ, Haroutunian V, Meador-Woodruff JH: Evidence for abnormal forward trafficking of AMPA receptors in frontal cortex of elderly patients with schizophrenia. Neuropsychopharmacology. 2010, 35: 2110-2119. 10.1038/npp.2010.87.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sodhi MS, Simmons M, McCullumsmith R, Haroutunian V, Meador-Woodruff JH: Glutamatergic Gene Expression Is Specifically Reduced in Thalamocortical Projecting Relay Neurons in Schizophrenia. Biol Psychiatry. 2011
Google Scholar
Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, et al: Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci USA. 2011, 108: 4920-4925. 10.1073/pnas.1102233108.
Article
CAS
PubMed
PubMed Central
Google Scholar
Walitza S, Wendland JR, Gruenblatt E, Warnke A, Sontag TA, Tucha O, et al: Genetics of early-onset obsessive-compulsive disorder. Eur Child Adolesc Psychiatry. 2010, 19: 227-235. 10.1007/s00787-010-0087-7.
Article
PubMed
Google Scholar
Samuels J, Wang Y, Riddle MA, Greenberg BD, Fyer AJ, McCracken JT, et al: Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet. 2011, 156B: 472-477.
Article
PubMed
Google Scholar
Kantojarvi K, Onkamo P, Vanhala R, Alen R, Hedman M, Sajantila A, et al: Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet. 2010, 20: 102-108.
PubMed
Google Scholar
Baca-Garcia E, Vaquero-Lorenzo C, Perez-Rodriguez MM, Gratacos M, Bayes M, Santiago-Mozos R, et al: Nucleotide variation in central nervous system genes among male suicide attempters. Am J Med Genet B Neuropsychiatr Genet. 2010, 153B: 208-213.
CAS
PubMed
Google Scholar
Oades RD, Lasky-Su J, Christiansen H, Faraone SV, Sonuga-Barke EJ, Banaschewski T, et al: The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis. Behav Brain Funct. 2008, 4: 48-62. 10.1186/1744-9081-4-48.
Article
PubMed
PubMed Central
Google Scholar
Arion D, Sabatini M, Unger T, Pastor J, Alonso-Nanclares L, Ballesteros-Yanez I, et al: Correlation of transcriptome profile with electrical activity in temporal lobe epilepsy. Neurobiol Dis. 2006, 22: 374-387. 10.1016/j.nbd.2005.12.012.
Article
CAS
PubMed
Google Scholar
Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R, et al: Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet. 2005, 76: 950-966. 10.1086/430454.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kilpinen H, Ylisaukko-Oja T, Rehnstrom K, Gaal E, Turunen JA, Kempas E, et al: Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet. 2009, 18: 2912-2921. 10.1093/hmg/ddp229.
Article
CAS
PubMed
PubMed Central
Google Scholar
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, et al: Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?. Hum Mutat. 2010, 31: 840-850. 10.1002/humu.21284.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vijayan NN, Iwayama Y, Koshy LV, Natarajan C, Nair C, Allencherry PM, et al: Evidence of association of serotonin transporter gene polymorphisms with schizophrenia in a South Indian population. J Hum Genet. 2009, 54: 538-542. 10.1038/jhg.2009.76.
Article
CAS
PubMed
Google Scholar
Grozeva D, Kirov G, Ivanov D, Jones IR, Jones L, Green EK, et al: Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry. 2010, 67: 318-327. 10.1001/archgenpsychiatry.2010.25.
Article
PubMed
PubMed Central
Google Scholar
Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM, et al: Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics. 2009, 40: 137-140. 10.1055/s-0029-1237724.
Article
CAS
PubMed
Google Scholar
Firth HV: 22q11.2 Duplication. GeneReviews. [http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTests]
Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P, et al: Support for the involvement of large CNVs in the pathogenesis of schizophrenia. Hum Mol Genet. 2009, 18: 1497-1503. 10.1093/hmg/ddp043.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cubells JF, Deoreo EH, Harvey PD, Garlow SJ, Garber K, Adam MP, et al: Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet A. 2011, 155A: 805-810.
Article
PubMed
Google Scholar