Publications (categorized by disease and date)

22q11 Deletion Syndrome

Krey JF, Pasca SP, Shcheglovitov A, Yazawa M, Schwemberger R, Rasmusson R, Dolmetsch RE. Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci 2013 Feb; 16(2):201-209. PMCID: PMC3568452

Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, Dolmetsch RE. SHANK3 and IGF1 restore synaptic deficits in neurons from 11q13 deletion syndrome patients. Nature 2013 Nov 14; 503(7475):267-271. PMID: 24132240

Wang Y, Dolmetsch R. In vitro human corticogenesis. Neuron 2013 Feb 6; 77(3):379-381. PMID: 23395367

Dolmetsch R, Geschwind DH. The human brain in a dish: the promise of iPSC-derived neurons. Cell 2011 Jun 10; 145(6):831-834. PMCID: PMC3691069

Pasca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pasca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med 2011 Nov 27; 17(12):1657-1662. PMCID: PMC3517299

Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 2011 Mar 10; 471(7337):230-234. PMCID: PMC3077925

 

Alzheimer's Disease

Cai G, Atzmon G, Naj A, Beecham GW, Barzilai N, Haines JL, Sano M, Pericak-Vance MA, Buxbaum JD.  Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease.  Neurobiol Aging 2012 Feb; 33(2):416-417. PMID: 20381196

Choi Y, Marchani EE, Bird TD, Steinbart EJ, Blacker D, Wijsman EM.  Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity.  Am J Med Genet B Neuropsychiatr Genet 2011 Dec; 156B(7):785-798. PMCID: PMC3168696

Ismail MS, Dagerman K, Tariot PN, Abbott S, Kavanaugh S, Schneider LS. National Institute of Mental Health Clinical Antipsychotic Trials of Intervention Effectiveness-Alzheimer's Disease (CATIE-AD): baseline characteristics. Curr Alzheimer Res 2007 Jul; 4(3):325-335. PMID: 17627490

Bacanu SA, Devlin B, Chowdari KV, Dekosky ST, Nimgaonkar VL, Sweet RA.  Heritability of psychosis in Alzheimer's disease. Am J Geriatr Psychiatry 2005; 13(7):624-627. Download PDF

Holmans P, Hamshere M, Hollingworth P, Rice F, Tunstall N, Jones S, Moore P, Devrieze FW, Myers A, Crook R, Compton D, Marshall H, Meyer D, Shears S, Booth J, Ramic D, Williams N, Norton N, Abraham R, Kehoe P, Williams H, Rudrasingham V, O'donovan M, Jones L, Hardy J, Goate A, Lovestone S, Owen M, Williams J. Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 2005; 135(1):24-32. Download PDF

Schneider LS, Dagerman KS, Insel P. Risk of death with atypical antipsychotic drug treatment for dementia: meta-analysis of randomized placebo-controlled trials. JAMA 2005 Oct 19; 294(15):1934-1943. PMID: 16234500

Busby V, Goossens S, Nowotny P, Hamilton G, Smemo S, Myers A, Womick M, Woo D, Compton D, Al-Sarej S, Killick R, Pickering-Brown S, Lendon C, Iwatsubo T, Morris JC, Norton J, Mann D, Janssens B, Hardy J, O'Donovan M, Jones L, Williams J, Holmans P, Owen MJ, Grupe A, Powell J, van Hengel J, Goate A, van Roy F, Lovestone S. Alpha-T-catenin is expressed in human brain and interacts with the want signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. Neuromolecular Med 2004; 5: 133-146. Download PDF

Li Y, Nowotny P, Holmans P, Smemo S, Kauwe J, Hinrichs T, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Schrodi S, Leong D, Gogic G, Chan J, Cravchik A, Ross D, Lau K, Kwok S, Chang S-Y, Catanese J, Sninsky J, White T, Hardy J, Powell J, Lovestone S, Morris JC, Thal L, Owen M, Williams J, Goate A, Grupe A. Association of late onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. PNAS 2004; 101:15688-15693. Download PDF

Myers A, Marshall H, Holmans P, Compton D, Crook R, Mander A, Nowotny P, Smemo S, Dunstan M, Jehu L, Wang J, Hamshere M, Morris JC, Norton J, Chakraverty S, Tunstall N, Lovestone S, Petersen R, O'Donovan M, Jones L, Williams J, Owen MJ, Hardy J, Goate A. Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD.  Am J Med Gen B Neuropsychiatr Genet 2004; 124B:29-37. Download PDF

Blacker D, Bertram L, Saunders J, Moscarillo TJ, Albert M, Wiener H, Perry RT, Collins JS, Harrell LE, Go RCP, Mahoney A, Beaty T, Fallin MD, Avramopoulos D, Chase GA, Folstein MF, McInnis MG, Bassett SS, Doheny KJ, Pugh EW, Tanzi RE. Results of a high-resolution genome screen of 437 Alzheimer's disease families. Hum Mol Genet 2003; 12:23-32.  Download PDF

Davis SM, Koch GG, Davis CE, LaVange LM. Statistical approaches to effectiveness measurement and outcome-driven re-randomizations in the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) studies. Schizophr Bull 2003; 29(1):73-80. PMID: 12908662

Saunders AJ, Bertram L, Mullin K, Sampson AJ, Latifzai K, Basu S, Jones J, Kinney D, MacKenzie-Ingano L, Yu Stephen, Albert MS, Moscarillo TJ, Go RCP, Bassett SS, Daly MJ, Laird NM, Wang G, Velicelebi G, Wagner SL, Becker DK, Tanzi RE, Blacker D. Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin. Hum Mol Genet 2003; 12(21):2765-2776.   Download PDF

Saunders AJ, Tanzi RE. Welcome to the complex disease world: alpha2- macroglobulin and Alzheimer's disease. Exp Neurol 2003; 184(1):50-53.   Download PDF

Schneider LS, Ismail MS, Dagerman K, Davis S, Olin, McManus D, Pfeiffer E, Ryan JM, Sultzer DL, Tariot PN. Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE): Alzheimer's disease trial. Schizophr Bull 2003; 29(1):57-72. PMID: 12908661

Bacanu SA, Devlin B, Chowdari KV, DeKosky ST, Nimgaonkar VL, Sweet RA. Linkage analysis of Alzheimer disease with psychosis. Neurology 2002; 59(1):118-120. Download PDF

Myers A, Wavrand De Frieze F, Holmans P, Hamshere M, Crook R, Compton D, Marshall H, Meyer D, Shears S, Booth J, Ramic D, Knowles H, Morris JC, Williams N, Norton N, Abraham R, Kehoe P, Williams H, Rudrasingham V, Rice F, Giles P, Tunstal N, Jones L, Lovestone S, Williams J, Owen M, Hardy J, Goate A. A full genome screen for Alzheimer's disease: Stage two analysis.  Am J Med Genet B Neuropsychiatr Genet 2002; 114:235-244.  Download PDF

Olson JM, Goddard KAB, Dudek DM. A Second Locus for Very-Late-Onset Alzheimers Disease: a genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region.  Am J Hum Genet 2002; 71:154-161.  Download PDF

Sweet RA, Nimgaonkar VL, Devlin B, Lopez OL, DeKosky ST. Increased familial risk of psychotic phenotype of Alzheimer disease.  Neurology 2002; 58:907-911.  Download PDF

Bertram L, Guenette S, Jones J, Keeney D, Mullin K, Basu S, Yhu S, Deng A, Rebeck GW, Hyman BT, Go R, McInnis M, Blacker D, Tanzi R. No evidence for genetic association or linkage of the Cathepsin D (CTSD) Exon 2 Polymorphism and Alzheimer's disease.  Ann Neurol 2001; 49:114-116.  Download PDF

Curtis D, North BV, Sham PC. A novel method of two-locus linkage analysis applied to a genome scan for late onset Alzheimer's disease.  Am Hum Genet 2001; 65:473-482.  Download PDF

Qu T, Manev R, Manev H. 5-Lipoxyenase (5-LOX) promoter polymorphism in patients with early-onset and late-onset Alzheimer's Disease. J Neuropsychiatry Clin Neurosci 2001; 13:304-305. Download PDF

Olson JM, Goddard KAB, Dudek DM. The amyloid precursor protein locus and very-late-onset Alzheimer disease.American Journal of Human Genetics 2001; 69:895-899. Download PDF

Perry RT, Collins JC, Wiener H, Acton R, Go RCP. The role of TNF and its receptors in Alzheimer disease. Neurobiol Aging 2001; 22:873-883.   Download PDF

Schneider LS, Tariot PN, Lyketsos CG, Dagerman KS, Davis KL, Davis S, Hsiao JK, Jeste DV, Katz IR, Olin JT, Pollock BG, Rabins PV, Rosenheck RA, Small GW, Lebowitz B, Lieberman JA. National Institute of Mental Health Clinical Antipsychotic Trials of Intervention Effectiveness CATIE-AD): Alzheimer disease trial methodology. Am J Geriatr Psychiatry 2001 Fall; 9(4):346-360. PMID: 11739062

Bertram L, Blacker D, Crystal A, Mullin K, Keeney D, Jones J, Basu S, Yhu S, Guenette S, McInnis M, Go R, Tanzi R. Candidate genes showing no evidence for association or linkage with Alzheimer's disease using family-based methodologies.  Exp Gerontol 2000; 35:1353-1361.  Download PDF

Bertram L, Blacker D, Mullin K, Keeney D, Jones J, Basu S, Yhu S, McInnis M, Go R, Vekrellis K, Selkoe D, Saunders A, Tanzi R. Evidence for genetic linkage of Alzheimer's disease to chromosome 10q.  Science 2000; 290:2302-2303.  Download PDF

Buxbaum JD, Lilliehook C, Chan JY, Go RC, Bassett SS, Tanzi RE, Wasco W, Blacker D. Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: No association between an exonic polymorphism and Alzheimer's disease.  Neurosci Lett 2000; 294:135-138.   Download PDF

Collins JS, Perry, RT, Watson B, Harrell LE, Acton RT, Blacker D, Albert MS, Tanzi RE, Bassett SS, McInnis MG, Campbell RD, Go RCP. Association of a haplotype for tumor necrosis factor in siblings with late-onset Alzheimer disease: The NIMH Alzheimer Genetics Initiative. Am J Med Genet B Neuropsychiatr Genet 2000; 96:823-830. Download PDF

Guenette SY, Bertram L, Crystal A, Bakondi B, Hyman BT, Rebeck GW, Tanzi RE, Blacker D. Evidence against association of the FE65 Gene (APBB1) Intron 13 polymorphism in Alzheimer's patients.  Neurosci Lett 2000; 296:17-20.  Download PDF

Myers A, Holmans P, Marshall H, Kwon J, Meyer D, Ramic D, Shears S, Booth J, Wavrant De Vrieze F, Crook R, Hamshere M, Abraham R, Tunstall N, Rice F, Carty S, Lillystone S, Kehoe P, Rudrasingham V, Johnes L, Lovestone L, Perez-Tur J, Williams J, Owen MJ, Hardy J, Goate AM. Susceptibility locus for Alzheimer's disease on chromosome 10.  Science 2000; 290:2304-2305.  Download PDF

Blacker D, Crystal AS, Wilcox MA, Laird NM, Tanzi RE. In reply - alpha-2 macroglobulin gene and Alzheimer disease. Nature Genetics 1999; 22:21-22. Download PDF

Grubber JM, Saunders AM, Crane-Gatherum AR, Scott WK, Martin ER, Haynes CS, Conneally PM, Small GW, Roses AD, Haines JL, Pericak-Vance MA. Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K). Neurosci Lett 1999; 262(2):115-119. Download PDF

Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin M-C, Shears S, Roehl K, Booth J, Van Voorst W, Ramic D, Williams J, Goate A, Hardy J, Owen MJ. A full genome scan for late onset Alzheimer's disease. Hum Mol Genet 1999; 8:237-245. Download PDF

Rogaeva E, Premkumar S, Grubber J, Serneels L, Scott W, Kawarai T, Song Y, Hill DLM, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M, Supala A, Roberge B, Saunders AM, Roses AD, Schmechel D, Crane-Gatherum A, Sorbi S, Bruni A, Small GW, Conneally PM, Haines JL, Van Leuven F, St. George-Hyslop P, Farrer LA, Pericak-Vance MA. An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nature Genet 1999; 22:19-21. Download PDF

Rudrasingham V, Wavrant-DeVrieze F, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Rice F, Perez-Tur J, Frigard S, Chartier-Harlin M-C, Goate A, Hardy J, Own M, Williams J. Linkage but not association between alph-2-macroglobulin and late onset Alzheimer's disease.  Nature Genet 1999; 22:17-19. Download PDF

Wavrant-DeVrieze F, Crook R, Holmans P, Kehoe P, Owen MJ, Williams J, Roehl K, Laliiri D, Shears S, Booth J, Wu W, Goate A, Chartier-Harlin M-C, Hardy J, Perez-Tur J. Genetics variability at the APP locus may contribute to late-onset Alzheimer's disease.  Neurosci Lett 1999; 269:67-70.  Download PDF

Wavrant-DeVrieze F, Rudrasingham V, Lambert JC, Charkraverty S, Kehoe P, Crook r, Amouyel P, Wu W, Holmans P, Rice F, Perez-Tur J, Frigard B, Morris JC, Carty S, Cottel D, Tunstal N, Lovestone S, Petersen RC, Chartier-Harlin MC, Goate A, Owen MJ, Williams J, Hardy J. No association between the alpha 2 macroglobulin I1000V polymorphism and Alzheimer's disease.  Neurosci Lett 1999; 262(2):137-139. Download PDF

Blacker D, Wilcox MA, Laird NM, Rodes L, Horvath SM, Go RCP, Perry R, Watson B Jr, Bassett SS, McInnis MG, Albert MS, Hyman BT, Tanzi RE. Alpha-2 macroglobulin is genetically associated with Alzheimer disease. Nature Genetics 1998; 19:357-360. Download PDF

Wu WS, Holmans P, Wavrant-DeVrieze F, Shears S, Kehoe P, Crook R, Booth J, Williams N, Perez-Tur J, Roehl K, Fenton I, Chartier-Harlin MC, Lovestone S, Williams J, Hutton M, Hardy J, Owen M, Goate A. Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA 1998; 280(7):619-622. Download PDF

Blacker D, Haines JL, Rodes L, Terwedow H, Go RCP, Harrell LE, Perry RT, Bassett SS, Chase G, Meyers D, Albert MS, Tanzi R. APOE-4 and age-at-onset of Alzheimer's disease: the NIMH Genetics Initiative. Neurology 1997; 48(1):139-147.

Farrer AL, Cupples LA, Haines JL, Hyman B, Kulull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Dujin CM, for the APOE and Alzheimer Disease Meta Analysis Consortium. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. JAMA 1997; 278(16):1349-1356.

Perry RT, Go RCP, Harrell LE, Acton RT. SSCP analysis and sequencing of the human prion protein gene (PRNP0) detects two different 24 bp deletions in an atypical Alzheimer's disease family. Am J Med Genet Neuropsychiatr Genet 1995; 60(1):12-18.

Blacker D, Albert MS, Bassett SS, Go, RCP, Harrell LE, Folstein MF. Reliability and validity of NINCDS-ADRDA criteria for Alzheimer's disease. Arch Neurol 1994; 51(12):1198-1204.

 

Autism

Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Connor I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW.  Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.  Hum Genet 2015 Feb; 134(2):191-201.  PMID: 25432440

Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, Pinto D, Poustka F, Scherer SW, Shih A, Sutcliffe JS, Szatmari P, Vicente AM, Vieland V, Gallagher L.  The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.  Mol Autism 2014; 5:34.

Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014 May 1; 94(5):677-694. PMCID: PMC4067558

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.  Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.  Int Rev Neurobiol 2013; 113:251-267.  PMID: 24290388

Cross-Disorder Group of the Psychiatric Genomics Consortium, et al.  Genetic relaltionship between five psychiatric disorders estimated from genome-wide SNPs.  Nat Genet 2013 Sep; 45(9):984-994.  PMCID: PMC3800159

Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, DePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ.  Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.  Neuron 2013 Jan 23; 77(2):235-242.  PMCID: PMC3613849

Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, DePristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K.  Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.  PLoS Genet 2013 Apr; 9(4):e1003443.  PMCID: PMC3623759

Lu AT, Yoon J, Geschwind DH, Cantor RM. QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. Mol Psychiatry 2013 Feb; 18(2):226-235. PMCID: PMC3586745

Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, Horvath S, Geschwind DH.  Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism cells.  Cell 2013 Nov 21; 155(5):1008-1021.  PMID: 24267887

Piven J, Vieland VJ, Parlier M, Thompson A, O'Connor I, Woodbury-Smith M, Huang Y, Walters KA, Fernandez B, Szatmari P.  A molecular genetic study of autism and related phenotypes in extended pedigrees.  J Neurodev Disord 2013 Oct 5; 5(1):30.  PMCID: PMC3851306

Stein JL, Parikshak NN, Geschwind DH.  Rare inherited variation in autism: beginning to see the forest and a few trees.  Neuron 2013 Jan 23; 77(2):209-211.  PMCID: PMC3691080

Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium.  The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.  Neuron 2012 Dec 20; 76(6):1052-1056.  PMCID: PMC3863639

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.  A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.  Proc Natl Acad Sci USA 2012 May 22; 109(21):7974-7981.  PMCID: PMC3361440

Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter D. Using large clinical datasets to infer pathogenicity for rare CNVs in autism spectrum disorders. Mol Psychiatry 2012 Oct; 18(10):1090-1095. PMID: 23044707

Konopka G, Wexler E, Rosen E, Mukamel Z, Osborn GE, Chen L, Lu D, Gao F, Gao K, Lowe JK, Geschwind DH. Modeling the functional genomics of autism using human neurons. Mol Psychiatry 2012 Feb; 17(2):202-214. PMCID: PMC3170664

Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011; 15(9):409-416. PMID: 21855394

Mukamel Z, Konopka G, Wexler E, Osborn GE, Dong H, Bergman MY, Levitt P, Geschwind DH. Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk. J Neurosci 2011; 31(32):11437-11442. PMID: 21832174

Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474(7351):380-384. PMID: 21614001

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19(20):4072-4082. PMCID: PMC2947401

Fradin D, Cheslack-Postava K, Ladd-Acosta C, Newschaffer C, Chakravarti A, Arking DE, Feinberg A, Fallin MD.  Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs. PLoS One 2010; 5(9):e12513. PMCID: PMC2932694

Hilton CL, Fitzgerald RT, Jackson KM, Maxim RA, Bosworth CC, Shattuck PT, Geschwind DH, Constantino JN. Brief report: Under-representation of African Americans in autism genetic research: a rationale for inclusion of subjects representing diverse family structures. J Autism Dev Disord 2010; 40(5):633-639. PMID: 19936905

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466(7304):368-372. PMCID: PMC3021798

Soctt-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med 2010; 2(56):56ra80. PMCID: PMC3065863

Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Mol Psychiatry 2010; 15(10):996-1005. PMCID: PMC2889141

Bill BR, Geschwind DH. Genetic advances in autism: heteorgeneity and convergence on shared pathways. Curr Opin Genet Dev 2009; 19(3):271-278. PMCID: PMC2715429

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5(6):e1000536. PMCID: PMC2695001

Geschwind DH. Advances in autism. Annu Rev Med 2009; 60:367-380. PMID: 19630577

Geschwind DH, Konopka G. Neuroscience in the era of functional genomics and systems biology. Nature 2009; 461:(7266):908-915. PMID: 19829370

Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One 2009; 4(2):e4582. PMCID: PMC2644762

Psychiatric GWAS Consortium Coordinating Committee, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 2009; 166(5):540-556. PMID: 19339359

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459(7246):528-533. PMCID: PMC2943511

Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461(7265):802-808. PMCID: PMC2772655

Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9(5):341-355. PMCID: PMC2756414

Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, Lao K, Kosik KS. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics 2008; 9(3):153-161. PMID: 18563458

Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82(1):150-159. PMCID: PMC2253955

Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet 2008; 17(24):3887-3896. PMCID: PMC2638573

Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82(1):160-164. PMCID: PMC2253968

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular cytogenetic analysis and resequencing of contactin associated portein-like 2 in autism spectrum disorders. Am J Hum Genet 2008; 82(1):165-173. PMCID: PMC2253974

Geschwind DH. Autism: many genes, common pathways? Cell 2008; 135(3):391-395. PMCID: PMC2756410

Geschwind DH. Autism: Family connections. Nature 2008; 454(7206):838-839. PMID: 18704077

Loat CS, Curran S, Lewis CM, Duvall J, Geschwind DH, Bolton P, Craig IW. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. Genes Brain Behav 2008; 7(7):754-760. PMID: 19125863

Campbell DB, Li C, Sutcliffe JS, Persico AM, Levitt P. Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. Autism Res 2008; 1(3):159-168. PMCID: PMC2678909

Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 2008; 63(12):1111-1117. PMID: 18374305

Kumar RA, Karamohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17(4): 628-638. PMID: 18156158

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358(7):667-675. PMID: 18184952

Ma DQ, Cuccaro ML, Jaworski JM, Haynes CS, Stephan DA, Parod J, Abramson RK, Wright HH, Gilbert JR, Haines JL, Pericak-Vance MA. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Mol Psychiatry 2007; 12:376-384. PMID: 17179998

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science 2007; 316:445-449. PMID: 17363630

The Austism Genome Project Consortium; Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Roge B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bolte S, Feineis-Matthews S, Herbrecht E, Schmotzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemmer C, Koop F, Langemeijer M, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchison A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39(3):319-328. PMID: 17322880

Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Ann Hum Genet 2006; 70(Pt 3):281-292. Download PDF

Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P. A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci USA 2006; 103(45):16834-16839. Download PDF

Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics 2006; 7(3):167-174. Download PDF

Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics 2006; 7(1):118. Download PDF

Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook Jr EH, Ober C, Sutcliffe JS. Variation in ITGB3 is associated with whole blood serotonin level and autism susceptibility. Eur J Hum Genet 2006; 14:923-931.  Download PDF

Yonan AL, Palmer AA, Gilliam TC. Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism. Psychiatr Genet 2006; 16(1):31-34. Download PDF

Alarcon M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH. Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Mol Psychiatry 2005; 10:747-757. Download PDF

Bartlett CW, Gharani N, Millonig JH, Brzustowicz LM. Three autism candidate genes: a synthesis of human genetic analysis with other disciplines. Int J Dev Neurosci 2005; 23(2-3):221-234. Download PDF

Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, Bruse SE, Tischfield S, Smith BJ, Zimmerman RA, DiCicco-Bloom E, Brzustowicz LM, Millonig JH. Support for the homeobox transcription factor gene ENGRAILED 2 is an autism spectrum disorder susceptibility locus. Am J Med Genet 2005; 77:851-868.  Download PDF

Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcon M, Nelson SF, Geschwind DH. Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 2005; 76(6):1050-1056. Download PDF

Hamilton SP, Woo JM, Carlson EJ, Ghanem N, Ekker M, Rubenstein JLR. Analysis of four DLX homeobox genes in autistic probands. BMC Genet 2005; 6:52.  Download PDF

Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet 2005; 77(3):377-388. Download PDF

McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, Folstein SE, Haines JL, Sutcliffe JS. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 2005; 6(1):1-11. Download PDF

Prasad HC, Zhu CB, McCauley JL, Samuvel DJ, Ramamoorthy S, Shelton RC, Hewlett WA, Sutcliffe JS, Blakely RD. Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase. Proc Natl Acad Sci USA 2005; 102(32):11545-11550. Download PDF

Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A 2005; 139A:106-113. Download PDF

Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER, Delong GR, Moore JH, McCauley JL, Sutcliffe JS, Ashley-Koch AE, Cuccaro ML, Folstein SE, Gilbert JR, Pericak-Vance MA. Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 2005; 10:563-571. Download PDF

Sutcliffe JS, Delahunty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Med Genet 2005; 77:265-279.  Download PDF

Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Mol Psychiatry 2004; 9(5):474-484. Download PDF

Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A 2004; 131(1):1-10. Download PDF

McCauley JL, Olson LM, Amin T, Organ EL, Folstein SE, Haines JL, Sutcliffe JS. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet 2004; 131B:51-59.  Download PDF

McCauley JL, Dowd M, Olson LM, Amin T, Blakely RD, Folstein SE, Haines JL, Sutcliffe JS. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am J Med Genet 2004; 127B:104-112.  Download PDF

Rabionet R, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Analysis of the austim chromosome 2 linkage region: GAD1 and other candidate genes. Neurosci Lett 2004; 372(3):209-214. Download PDF

Raiford KL, Shao Y, Allen IC, Martin ER, Menold MM, Wright HH, Abramson RK, Worley G, DeLong GR, Vance JM, Cuccaro ML, Gilbert JR, Pericak-Vance MA. No association between the APOE gene and autism. Am J Med Genet B Neuropsychiatr Genet 2004; 125(1):57-60. Download PDF

Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Med Genet 2004; 131A(1):11-17. Download PDF

Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003; 73(4):886-897. Download PDF

Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav 2003; 2(5):303-320. Download PDF

Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH, Autism Genetic Research Exchange Consortium. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002; 70(1):60-71. Download PDF

Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iverson P, Hoh J, Ott J, Gilliam TC; Autism Genetic Resource Exchange Consortium. A genomewide screen for autism susceptibility loci. Am J Hum Genet 2001; 69(2):327-340. Download PDF

Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorp D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Petersen PB, Pingree C, McMahon W, Wong DL, Cavalli-Sforza LL, Kramer HC, Myers RM. A genomic screen of autism: Evidence for a multi-locus etiology.   Am J Hum Genet 1999; 65:493-507.  Download PDF

 

Bipolar Disorder

Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Burnkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study, Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC. Rare variants in neuronal excitability genes influence risk for bipolar disorder. Proc Natl Acad Sci USA 2015 Mar 17; 112(11):3576-3581. PMID: 25730879

Creta E, Fabbri C, Serretti A. Genetics of second-generation antipsychotic and mood stabilizer-induced weight gain in bipolar disorder: common and specific effects of key regulators of fat-mass homoeostasis genes. Pharmacogenet Genomics 2015 Jul; 25(7):354-362. PMID: 25946404

Drago A, Crisafulli C, Calabro M, Serretti A. Enrichment pathway analysis. The inflammatory genetic background in Bipolar Disorder. J Affect Disord 2015 Jul 1; 179:88-94. PMID: 25855618

Drago A, Crisafulli C, Sidoti A, Calabro M, Serretti A. The microtubule-associated molecular pathways may be generally disrupted in patients with Bipolar Disorder. Insights from the molecular cascades. J Affect Disord 2015 Oct 23; 190:429-438. PMID: 26551401

Drago A, Monti B, De Ronchi D, Serretti A. CRY1 Variations Impacts on the Depressive Relapse Rate in a Sample of Bipolar Patients. Psychiatry Investig 2015 Jan; 12(1):118-124. PMCID: PMC4310909

Fabbri C, Serretti A. Genetics of long-term treatment outcome in bipolar disorder. Prog Neuropsychopharmacol Biol Psychiatry 2015 Aug 20; 65:17-24. PMID: 26297903

Fabbri C, Souery D, Calati R, Crisafulli C, Chierchia A, Albani D, Forloni G, Chiesa A, Martines R, Sentissi O, Mendlewicz J, De Girolamo G, Serretti A. Genetics of psychotropic medication induced side effects in two independent samples of bipolar patients. J Neural Transm 2015 Jan; 122(1):43-58. PMID: 25129258

Castro VM, Minnier J, Murphy SN, Kohane I, Churchill SE, Gainer V, Cai T, Hoffnagle AG, Dai Y, Block S, Weill SR, Nadal-Vicens M, Pollastri AR, Rosenquist JN, Goryachev S, Ongur D, Sklar P, Perlis RH, Smoller JW for the International Cohort Collection for Bipolar Disorder. Validation of Electronic Health Record Phenotyping of Bipolar Disorder Cases and Controls. Am J Psychiatry 2014 (ahead of print).

Cocchi E, Drago A, Serretti A. Sulfur Amino Acid Metabolic Process Pathway may Modulate Bipolar Disorder with Alcohol Dependence Comorbidity. J Addict Res 2014; 5:177. doi: 10.4172/2155-6105. 1000177 (open access journal).

Drago A, Monti B, De Ronchi D, Serretti A. Genetic variations within metallooproteinases impact on the prophylaxis of depressive phases in bipolar patients. Neuropsychobiology 2014; 69(2):76-82. PMCID: PMC4011491

Fears SC, Service SK, Kremeyer B, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Franco J, Lopez MC, Montoya G, Montoya P, Aldana I, Teshiba TM, Abaryan Z, Al-Sharif NB, Ericson M, Jalbrzikowski M, Luykx JJ, Navarro L, Tishler TA, Altshuler L, Bartzokis G, Escobar J, Glahn DC, Ospina-Duque J, Risch N, Ruiz-Linares A, Thompson PM, Cantor RM, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Freimer NB, Bearden CE. Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees. JAMA Psychiatry 2014 Apr; 71(4):375-387. PMCID: PMC4045237

Hartz SM, Pato CN, Medeiros H, Cavazos-Rehg P, Sobell JL, Knowles JA, Bierut LJ, Pato MT; Genomic Psychiatry Cohort Consortium. Comorbidity of severe psychotic disorders with measures of substance use. JAMA Psychiatry 2014 Mar; 71(3):248-254.  PMCID: PMC4060740

Schultze TG, Akula N, Breuer R, Steele J, Nalls MA, Singleton AB, Degenhardt FA, Nöthen MM, Cichon S, Rietschel M; Bipolar Genome Study, McMahon FJ.  Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder.  World J Biol Psychiatry 2014 Apr; 15(3):200-208. PMCID: PMC3406228

Chen DT, Jiang X, Akula N, Shugart YY, Wendland JR, Steele CJ, Kassem L, Park JH, Chatterjee N, Jamain S, Cheng A, Leboyer M, Muglia P, Schultze TG, Cichon S, Nöthen MM, Rietschel M; BiGS, MaMahon FJ, Farmer A, McGuffin P, Craig I, Lewis C, Hosang G, Cohen-Woods S, Vincent JB, Kennedy JL, Strauss J.  Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.  Mol Psychiatry 2013 Feb; 18(2):195-205. PMID: 22182935

Drago A, Giegling I, Schäfer M, Hartmann AM, Friedl M, Konte B, Möller HJ, De Ronchi D, Stassen HH, Serretti A.  AKAP13, CACNA1, GRIK4 and GRIA1 genetic variations may be associated with haloperidol efficacy during acute treatment.  Eur Neuropsychopharmacol 2013 Aug; 123(8):887-894. PMID: 22980146

Pato MT, Sobell JL, Medeiros H, Abbott C, Sklar BM, Buckley PF, Bromet EJ, Escamilla MA, Fanous AH, Lehrer DS, Macciardi F, Malaspina D, McCarroll SA, Marder SR, Moran J, Morley CP, Nicolini H, Perkins DO, Purcell SM, Rapaport MH, Sklar P, Smoller JW, Knowles JA; Genomic Psychiatry Cohort Consortium, Pato CN. The genomic psychiatry cohort: partners in discovery. Am J Med Genet B Neuropsychiatr Genet 2013 Jun; 162B(4):306-312. PMCID: PMC3729260

Rastelli CPB, Cheng Y, Weingarden J, Frank E, Swartz HA.  Differences between unipolar depression and bipolar II depression in women.  J Affect Disord 2013 Sep 25; 150(3):1120-1124. PMCID: PMC3759529

Sequeira A, Martin MV, Rollins B, Moon EA, Bunney WE, Macciardi F, Lupoli S, Smith EN, Kelsoe J, Magnan CN, van Oven M, Baldi P, Wallace DC, Vawter MP. Mitochondrial mutations and polymorphisms in psychiatric disorders. Front Genet 2012 Jun 20; 3:103. PMCID: PMC3379031

Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F, Szoke A, Ribolsi M, Magni V, Siracusano A, Sperling S, Rossner M, Christiansen C, Kiemeney LA, Franke B, van den Berg LH, Veldink J, Curran S, Bolton P, Poot M, Staal W, Rehnstrom K, Kilpinen H, Freitag CM, Meyer J, Magnusson P, Saemundsen E, Martsenkovsky I, Bikshaieva I, Martsenkovska I, Vashchenko O, Raleva M, Paketchieva K, Stefanovski B, Durmishi N, Pejovic Milovancevic M, Lecic Tosevski D, Silagadze T, Naneishvili N, Mikeladze N, Surguladze S, Vincent JB, Farmer A, Mitchell PB, Wright A, Schofield PR, Fullerton JM, Montgomery GW, Martin NG, Rubino IA, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Terenius L, Jönsson EG, Bakker S, van Os J, Jablensky A, Leboyer M, Bramon E, Powell J, Murray R, Corvin A, Gill M, Morris D, O'Neill FA, Kendler K, Riley B; Wellcome Trust Case Control Consortium S, Craddock N, Owen MJ, O'Donovan MC, Thorsteinsdottir U, Kong A, Ehrenreich H, Carracedo A, Golimbet V, Andreassen OA, Børglum AD, Mors O, Mortensen PB, Werge T, Ophoff RA, Nöthen MM, Rietschel M, Cichon S, Ruggeri M, Tosato S, Palotie A, St Clair D, Rujescu D, Collier DA, Stefansson H, Stefansson K. Common variant at 16p11.2 conferring risk of psychosis. Mol Psychiatry 2012 Jan; 19(1):108-114. PMID: 23164818

Swartz HA, Levenson JC, Frank E.  Psychotherapy for bipolar II disorder: The role of interpersonal and social rhythm therapy.  Prof Psychol Res Pr 2012; 43(2):145-153.

Drago A, Crisafulli C, Serretti A.  The genetics of antipsychotic induced tremors: a genome-wide pathway analysis on the STEP-BD SCP sample.  Am J Med Genet B Neuropsychiatr Genet 2011; 156B(8):975-986. PMID: 21990027

Kerner B, Lambert CG, Muthén BO: Genome-wide association study in bipolar patients stratified by co-morbidity. PLoS One 2011; 6(12):e28477. PMCID: PMC3244396

Kerner B, Jasinska AJ, Deyoung J, Almonte M, Choi OW, Freimer NB: Polymorphisms in the GRIA1 gene region in psychotic bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2009 Jan 5; 150B(1):24-32. PMID: 18484081

Smith EN, Bloss CS, Badner JA, Barrett T, Belmonte PL, Berrettini W, Byerley W, Coryell W, Craig D, Edenberg HJ, Eskin E, Foroud T, Gershon E, Greenwood TA, Hipolito M, Koller DL, Lawson WB, Liu C, Lohoff F, McInnis MG, McMahon FJ, Mirel DB, Murray SS, Nievergelt C, Nurnberger J, Nwulia EA, Paschall J, Potash JB, Rice JP, Schulze TG, Scheftner W, Panganiban C, Zaitlen N, Zandi PP, Zöllner S, Schork NJ, Kelsoe JR. Genome-wide association study of bipolar disorder in European American and African American individuals. Mol Psychiatr 2009 Aug; 14(8):755-763. PMCID: PMC3035981

Maheshwari M, Shi J, Badner JA, Skol A, Willour VL, Muzny DM, Wheeler DA, Gerald FR, Detera-Wadleigh S, McMahon FJ, Potash JB, Gershon ES, Liu C, Gibbs RA. Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Psychiatr Genet 2009 Oct 5; 150B(7):960-966. PMCID: PMC2753761

Scott LJ, Muglia P, Kong XQ, Guan W, Fickinger M, Upmanyu R, Tozzi F, Li JZ, Bermeister M, Absher D, Thompson RC, Francks C, Meng F, Antoniades A, Southwick AM, Schatzberg AF, Bunney WE, Barchas JD, Jones EG, Day R, Matthews K, McGuffin P, Strauss JS, Kennedy JL, Middleton L, Roses AD, Watson SJ, Vincent JB, Myers RM, Farmer AE, Akil H, Burns DK, Boehnke M. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci USA 2009 May 5; 106(18):7501-7506. PMCID: PMC2678639

Le-Niculescu H, Patel SD, Bhat M, Kuczenski R, Faraone SV, Tsuang MT, McMahon FJ, Schork NJ, Nurnberger Jr JI, Niculescu III AB. Convergent functional genomics of genome-wide association data for bipolar disorder: comprehensive identification of candidate genes, pathways and mechanisms. Am J Med Genet B Psychiatr Genet 2009 Mar 5; 150B(2):155-181. PMID: 19025758

Zhang D, Cheng L, Qian Y, Alliey-Rodriguez N, Kelsoe JR, Greenwood T, Nievergelt C, Barrett TB, McKinney R, Schork N, Smith EN, Bloss C, Nurnberger J, Edenberg HJ, Foroud R, Sheftner W, Lawson WB, Nwulia EA, Hipolito M, Coryell W, Rice JP, Byerley W, McMahon F, Schulze TG, Berrettini W, Potash JB, Belmonte PL, Zandi PP, McInnis M, Zöllner S, Craig D, Szelinger S, Koller D, Christian SL, Liu C, Gershon ES. Singleton deletions throughout the genome increase risk of bipolar disorder. Mol Psychiatr 2009; 14(4):376-380. PMID: 19114987

Liu L, Foroud T, Xuei X, Berrettini W, Byerley W, Coryell W, El-Mallakh R, Gershon ES, Kelsoe JR, Lawson WB, MacKinnon DF, McInnis M, McMahon FJ, Murphy DL, Rice J, Scheftner W, Zandi PP, Lohoff F, Niculescu AB, Meyer ET, Edenberg HJ, Nurnberger Jr JI. Evidence of association between brain-derived neurotrophic factor (BDNF) gene and bipolar disorder. Psychiatr Genet 2008; 18(6):267-274. PMCID: PMC2653694

Shi J, Badner JA, Hattori E, Potash JB, Willour VL, McMahon FJ, Gershon ES, Liu C. Neurotransmission and bipolar disorder: a systematic family-based association study. Am J Med Genet B Psychiatr Genet 2008; 147B(7):1270-1277. PMCID: PMC2574701

Shi J, Wittke-Thompson JK, Badner JA, Hattori E, Potash JB, Willour VL, McMahon FJ, Gershon ES, Liu C. Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7):1047-1055. PMCID: PMC2574897

Shi J, Badner JA, Liu C. PDLIM5 and susceptibility to bipolar disorder: a family-based association study and meta-analysis. Psychiatr Genet 2008; 18(3):116-121. PMCID: PMC2572255

Potash JB, Buervenich S, Cox NJ, Zandi PP, Akula N, Steele J, Rathe JA, Avramopoulos D, Detera-Wadleigh SD, Gershon ES, Depaulo JR Jr, Feinberg AP, McMahon FJ, NIMH Genetics Initiative Bipolar Disorder Consortium. Gene-based SNP mapping of a psychotic bipolar disorder affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1. Am J Med Genet B Neuropsychiatr Genet 2008; 147(1):59-67. PMID: 17671966

Kakiuchi C, Ishiwata M, Nanko S, Kunugi H, Minabe Y, Nakamura K, Mori N, Fujii K, Umekage T, Tochigi M, Kohda K, Sasaki T, Yamada K, Yoshikawa T, Kato T. Association analysis of HSP90B1 with bipolar disorder. J Hum Genet 2007; 52:794-803. PMID: 17805476

Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, Schulze TG, Cichon S, Rietschel M, Nöthen MM, Georgi A, Schumacher J, Schwarz M, Abou Jamra R, Höfels S, Propping P, Satagopan J, NIMH Genetics Initiative Bipolar Disorder Consortium, Detera-Wadleigh SD, Hardy J, McMahon FJ. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 2007; 1-11. PMID: 17486107

Goes FS, Zandi PP, Miao K, McMahon FJ, Steele J, Willour VL, MacKinnon DF, Mondimore FM, Schweizer B, Nurnberger Jr JI, Rice JP, Scheftner W, Coryell W, Berrettini WH, Kelsoe JR, Byerley W, Murphy DL, Gershon ES, Bipolar Disorder Phenome Group, DePaulo Jr JR, McInnis MG, Potash JP. Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33. Am J Psychiatry 2007; 164:236-247. PMID: 17267786

Kakiuchi C, Ishiwata M, Nanko S, Kunugi H, Minabe Y, Nakamura K, Mori N, Fujii K, Yamada K, Yoshikawa T, Kato T. Association analysis of ATF4 and ATF5, genes for interacting-proteins of DISC1, in bipolar disorder. Neurosci Lett 2007; 417(3):316-321. PMID: 17346882

Kerner B, Brugman DL, Freimer NB. Evidence of linkage to psychosis on chromosome 5q33-34 in pedigrees ascertained for bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144(1):74-78. PMID: 16958032

Lopez VA, Detera-Wadleigh S, Cardona I, Kassem L, The National Institute of Mental Health Genetics Initiative Bipolar Disorder Consortium, McMahon FJ. Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts. Biol Psychiatry 2007; 61(2):181-186. PMID: 16806105

Payne JL, Roy PS, Murphy-Eberenz K, Weismann MM, Swartz KL, McInnis MG, Nwulia E, Mondimore FM, MacKinnon DF, Miller EB, Nurnberger Jr JI, Levinson DF, DePaulo JR, Potash JB. Reproductive cycle-associated mood symptoms in women with major depression and bipolar disorder. J Affect Disorders 2007; 99:221-229. PMID: 17011632

Potash JB, Toolan J, Steele J, Miller EB, Pearl J, Zandi PP, Schulze TG, Kassem L, Simpson SG, Lopez V, NIMH Genetics Initiative Bipolar Disorder Consortium, MacKinnon DF, McMahon FJ. The bipolar disorder phenome database: a resource for genetic studies. Am J Psychiatry 2007; 164(8):1229-1237. PMID: 17671286

Kassem L, Lopez V, Hedeker D, Steele J, Zandi P, NIMH Genetics Initiative Bipolar Disorder Consortium, McMahon FJ. Familiality of polarity at illness onset in bipolar affective disorder. Am J Psychiatry 2006; 163:1754-1759. Download PDF

Akiskal HS, Mendlowicz MV, Girardin J-L, Rapaport MH, Kelsoe JR, Gillin JC, Smith TL.  TEMPS-A: validation of a short version of a self-rated instrument designed to measure variations in temperament.  J Affect Disord 2005; 85:45-52. Download PDF

Corradi JP,  Ravyn V, Robbins AK, Hagan KW, Bostwick R, Buono RJ, Berrettini WH, Furlong ST. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2, a region linked to schizophrenia and bipolar disorder displaying parent-of-origin effects. Mol Psychiatry 2005; 10:1017-1025.  Download PDF

Evans L, Akiskal HS, Keck PE, McElroy SL, Sadovnick AD, Remick RA, Kelsoe JR.  Familiality of temperament in bipolar disorder: Support for a genetic spectrum. J Affect Disord 2005; 85:153-168. Download PDF

Kakiuchi C, Ishiwata M, Nanko S, Kunugi H, Minabe Y, Nakamura K, Mori N, Fujii K, Umekage T, Tochigi M, Kohda K, Sasaki T, Yamada K, Yoshikawa T, Kato T. Functional polymorphisms of HSPA5: Possible association with bipolar disorder. Biochem Bioph Res Co 2005; 336(4):1136-1143. Download PDF

Kimmel RJ, Kovacs I, Vrabel C, Wood B, Schalling M, Kelsoe JR.  Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kedney disease in a large family.  Am J Psychiatry 2005; 162:1972-1974.  Download PDF

Lohoff FW, Berrettini, WH. Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder.  Psychiatr Genet 2005; 15:255-258.  Download PDF

Lohoff FW, Sander T, Ferraro TN, Dahl JP, Gallinat J, Berrettini WH. Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet 2005; 139B:51-53.  Download PDF

Lyons-Warren A, Chang JJ, Balkissoon R, Kamiya A, Garant M, Nurnberger Jr JI, Scheftner W, Reich T, McMahon F, Kelsoe J, Gershon E, Coryell W, Byerley W, Berrettini W, DePaulo R, McInnis M, Sawa A. Evidence of association between bipolar disorder and Citron on chromosome 12q24. Mol Psychiatry 2005; 10:807-809. Download PDF

Mansour A, Monk TH, Nimgaonkar VL.  Circadian genes and bipolar disorder.  Trends Mol Med 2005; 37:196-205. Download PDF

Mansour HA, Talkowski ME, Wood J, Pless L, Bamne M, Chowdari KV, Allen M, Bowden CL, Calabrese J, El-Mallakh RS, Fagiolini A, Faraone SV, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TA, Loftis JM, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Thase ME, Frank E, Kupfer DJ, Nimgaonkar VL. Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter. Ann Med 2005; 37:590-602. Download PDF

Mcnabb L, Ballas C, Doyle GA, Scena JE, Moore KW, Buono R, Berrettini WH. Association analysis of CHMP1.5 genetic variation and bipolar disorder.  Psychiatr Genet 2005; 15:211-214.  Download PDF

McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Jamra RA, Albus M, Bacanu S-A, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly MJ, DePaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo S-H, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, MacKinnon JD, McInnis MG, McMahon FJ, Murphy DL, Nothen MM, Nurnberger Jr., JI, Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Reitschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi PP, Laird NM. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q.  Am J Hum Genet 2005; 77(4):582-595. Download PDF

Mendlowicz MV, Akiskal HS, Kelsoe JR, Rapaport MH, Jean-Louis G, Gillin JC.  Temperament in the clinical differentiation of depressed bipolar and unipolar major depressive patients.  J Affect Disord 84: 219-223, 2005. Download PDF

Mendlowicz MV, Girardin J-L, Kelsoe JR, Akiskal HS.  A comparison of recovered bipolar patients, healthy relatives of bipolar probands, and normal controls using the short TEMPS-A.  J Affect Disord 2005; 85:147-151. Download PDF

Nievergelt CM, Kripke DF, Remick RA, Sadovnick AD, McElroy SL, Keck PR, Kelsoe JR.  Examination of the clock gene Cryptochrome 1 in bipolar disorder: mutational analysis and absence of evidence for linkage or association.  Psychiatr Genet 2005; 15:45-52. Download PDF

Cichon S, Buervenich S, Kirov G, Akula N, Dimitrova A, Green E,  Schumacher J, Klopp N, Becker T, Ohlraun S, Schulze TG, Tullius M, Gross MM,  Jones L, Krastev S, Nikolov I, Hamshere M, Jones I, Czerski PM, Leszczynska-Rodziewicz A, Kapelski P,  Bogaert AVD,  Illig T, Hauser J, Maier W, Berrettini W, Byerley W, Coryell W,  Gershon ES, Kelsoe JR, McInnis MG, Murphy DL, Nurnberger JI Jr,  Reich T, Scheftner W, O’Donovan MC, Propping P, Owen MJ,  Rietschel M, Nöthen MM, McMahon FJ ,Craddock N. Lack of  support for a genetic association of the XBP1 promoter polymorphism with bipolar disorder in probands of European origin. Nat Genet 2004; 36(8) 783-784. Download PDF

Faraone SV, Glatt SJ, Su J, Tsuang MT. Three potential susceptibility loci shown by a genome-wide scan for regions influencing the age at onset of mania. Am J Psychiatry 2004; 161(4):625-30. Download PDF

Faraone SV, Su J, Tsuang MT. A genome-wide scan of symptom dimensions in bipolar disorder pedigrees of adult probands. J Affect Disord 2004 Oct; 82 Suppl 1:S71-8.  Download PDF

Iwamoto K, Bundo M, Washizuka S, Kakiuchi C, Kato T. Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia. J Hum Genet. 2004; 49(5):227-31.  Download PDF

Prathikanti S, Schulze TG, Chen YS, Harr B, Akula N, Hennessy K, Potluri S, Lyons J, Nguyen T, McMahon FJ. Neither single-marker nor haplotype analyses support an association between genetic variation near NOTCH4 and bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2004; 131(1):10-5. Download PDF

Schulze TG, Buervenich S, Badner JA, Steele CJM, Detera-Wadleigh SD, Dick D, Foroud T, Cox NJ, MacKinnon DF, Potash JB, Berrettini WH, Byerley W, Coryell W, DePaulo J R, Gershon ES, Kelsoe JR, McInnis MG, Murphy DL, Reich T, Scheftner W, Nurnberger JI, McMahon FJ. Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees. Biol Psychiat 2004; 56:18-23. Download PDF

Washizuka S, Iwamoto K, Kazuno AA, Kakiuchi C, Mori K, Kametani M, Yamada K, Kunugi H, Tajima O, Akiyama T, Nanko S, Yoshikawa T, Kato T. Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees. Biol Psychiatry 2004 Oct 1; 56(7):483-9.  Download PDF

Barrett TB, Hauger RL, Kennedy JL, Sadovnick AD, Remick RA, Keck PE, McElroy SL, Alexander M, Shaw SH, Kelsoe JR.  Evidence that a single nucleotide polymorphism in the promoter of the G protein receptor kinase 3 is associated with bipolar disorder.  Mol Psychiatry 2003; 8:546-557. Download PDF

Dick DM, Foroud T, Flury L, Bowman ES, Miller MJ, Rau NL, Moe PR, Samavedy N, El-Mallakh R, Husseini M, Glitz DA, Meyer ET, Smiley C, Hahn R, Widmark C, McKinney R, Sutton L, Ballas C, Grice D, Berrettini W, Byerley W, Coryell W, DePaulo R, MacKinnon DF, Gershon ES, Kelsoe JR, McMahon FJ, McInnis M, Murphy DL, Reich T, Scheftner W, Nurnberger Jr JI.  Genomewide linkage analyses of bipolar disorder:  A new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative.  Am J Hum Genet 2003; 73:107-114. Download PDF

Greenwood TA, Kelsoe JR. Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene. Genomics 2003; 82:511-519. Download PDF

Kakiuchi C, Iwamoto K, Ishiwata M, Bundo M, Kasahara T, Kusumi I, Tsujita T, Okazaki Y, Nanko S, Kunugi H, Sasaki T, Kato T.  Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. Nat Genet 2003 Oct;35(2):171-5. Epub 2003 Aug 31.  Download PDF

Kelsoe JR.  Arguments for the genetic basis of the bipolar spectrum. J Affective Disord 2003; 73:183-197. Download PDF

Kelsoe JR.  Update on the search for genes for bipolar disorder.  Current Psychosis and Therapeutics Reports 2003; 1:62-66.

MacKinnon DF, Zandi PP, Gershon E, Nurnberger Jr JI, Reich T, DePaulo JR.  Rapid switching of mood in families with multiple cases of bipolar disorder.  Arch Gen Psychiatry 2003; 60:921-928. Download PDF

MacKinnon DF, Zandi PP, Gershon ES, Nurnberger Jr JI, DePaulo Jr JR. Association of rapid mood switching with panic disorder and familial panic risk in familial bipolar disorder (Brief Report).  Am J Psychiat 2003; 160(9):1696-1698. Download PDF

Potash JB, Chiu YF, MacKinnon DF, Miller EB, Simpson SG, McMahon FJ, McInnis MG, DePaulo Jr JR. Familial aggregation of psychotic symptoms in a replication set of 69 bipolar disorder pedigrees. Am J Med Genet B Neuropsychiatr Genet 2003; 116(1): 90-97.  Download PDF

Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CL, Gill M, Nurnberger Jr JI, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lönnquist J, Nöthen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, MacGregor S, Gurling H, Kalsi Gursharan K, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: bipolar disorder. Am J Hum Genet 2003; 73:49-62. Download PDF

Shaw S, Mroczkowski-Parker Z, Schekhtman T, Alexander M, Remick R, Sadovnick D, McElroy S, Keck P, Kelsoe J.  Linkage of a bipolar disorder susceptibility locus to human chromosome 13q32 in a new pedigree series. Mol Psychiatry 2003; 8:558-564. Download PDF

Willour VL, Zandi PP, Huo Y, Diggs TL, Chellis JL, MacKinnon DF, Simpson SG, McMahon FJ, Potash JB, Gershon ES, Reich T, Foroud T, Nurnberger Jr JI, DePaulo JR, McInnis MG.  Genome scan of the fifty-six bipolar pedigrees from the NIMH genetics initiative replication sample:  Chromosomes 4, 7, 9, 18, 19, 20 and 21.  Am J Med Genet B Neuropsychiatr Genet 2003; 121B:21-27. Download PDF

Zandi PP, Willour VL, Huo Y, Chellis J, Potash JB, MacKinnon DF, Simpson SG, McMahon FJ, Gershon E, Reich T, Foroud T, Nurnberger Jr JI, DePaulo JR, McInnis MG. Genome scan of a second wave of NIMH genetics initiative bipolar pedigrees: Chromosomes 2, 11, 13, 14 and X.  Am J Med Genet B Neuropsychiatr Genet 2003; 119B:69-76. Download PDF

Dick DM, Foroud T, Edenberg HJ, Miller M, Bowman E, Rau NL, DePaulo JR, BcInnis M, Gershon E, McMahon F, Rice JP, Bierut LJ, Reich T, Nurnberger J. Apparent replication of suggestive linkage on chromosome 16 in the NIMH Genetics Initiative Bipolar Pedigrees.  Am J Med Genet B Neuropsychiatr Genet 2002; 114(4):407-412.  Download PDF

Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, Shaw SH, Kelsoe JR.  Segmental linkage disequilibrium within the dopamine transporter gene.  Mol Psychiatry 2002; 7:165-173. Download PDF

Kelsoe JR, Niculescu AB.  Finding genes for bipolar disorder in the functional genomics era:  From convergent functional genomics to phenomics and back.  CNS Spectr 2002; 7(3):215-216, 223-226.

Liang SG, Sadovnick AD, Remick RA, Keck PE, McElroy SL, Kelsoe JR.  A linkage disequilibrium study of bipolar disorder and microsatellite markers on 22q13.  Psychiatr Genet 2002; 12:231-235. Download PDF

Shilling PD, Kelsoe JR.  Functional genomics approaches to understanding brain disorders.  Pharmacogenomics 2002; 3(1):31-47. Download PDF

Sipe, JC, Chiang K, Gerber A, Beutler E, Cravatt BF.  A missense mutation in human fatty acid amide hydrolase associated with problem drug use. PNAS 2002; 99(12): 8394-8399. Download PDF

Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, Kelsoe JR. Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2001; 105:145-151. Download PDF

Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA, Flodman P, Khristich J, Mroczkowski-Parker Z, Brown JL, Masser D, Ungerleider S, Rapaport MH, Wishart WL, Luebbert H.  A genome survey indicates a susceptibility locus for bipolar disorder on chromosome 22. PNAS 2001; 98:585-590. Download PDF

Foroud T, Castelluccio PF, Koller DL, Edenberg HJ, Miller M, Bowman E, Rau NL, Smiley C, Rice JP, Goate A, Armstrong C, Bierut LJ, Reich T, Detera-Wadleigh SD, Goldin LR, Badner JA, Guroff JJ, Gershon ES, McMahon FJ, Simpson S, MacKinnon D, McInnis M, Stine OC, DePaulo JR, Blehar MC, Nurnberger JI. Suggestive evidence of a locus on chromosome 10p using the NIMH Genetics Initiative bipolar affective disorder pedigrees. Am J Med Genet B Neuropsychiatr Genet 2000; 96:18-23. Download PDF

Niculescu AB, Segal DS, Kuczenski R, Barrett T, Hauger RL, Kelsoe JR.  Identifying a series of candidate genes for mania and psychosis:  A convergent functional genomics approach. Physiol Genomics 2000; 4:83-91. Download PDF

Edenberg HJ, Foroud T, Conneally PM, Sorbel JJ, Carr K, Crose C, Willig C, Zhao J, Miller M, Bowman E, Mayeda A, Rau NL, Smiley C, Rice JP, Goate A, Reich T, Stine OC, McMahon F, DePaulo JR, Meyers D, Detra-Wadleigh SD, Goldin LR, Gershon ES, Blehar MC, Nurnberger, Jr. JI: Initial Genomic Scan of the NIMH Genetics Initiative Bipolar Pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22. American Journal of Medical Genetics (Neuropsychiatric Genetics) 1997; 74:238-246.Download PDF.

Detera-Wadleigh SD, Badner JA, Yoshikawa T, Sanders AR, Goldin LR, Turner G, Rollins DY, Moses T, Guroff JJ, Kazuba D, Maxwell ME, Edenberg HJ, Foroud T, Lahiri D, Nurnberger JI, Stine OC, McMahon F, Meyers DA, MacKinnon DF, Simpson S, McInnis M, DePaulo JR, Rice JP, Goate A, Reich T, Blehar MC, Gershon ES. Initial genome scan of the NIMH Genetics Initiative bipolar pedigrees: chromosomes 4, 7, 9, 18, 19, 20, and 21q. Am J Med Gen B Neuropsychiatr Genet 1997; 74:254-262. Download PDF

The NIMH Genetics Initiative Bipolar Group: Nurnberger JI, DePaulo JR, Gershon ES, Reich T, Blehar MC and collaborators from Indiana University (HJ Edenberg, T Faroud, M Miller, E Bowman, A Mayeda, NL Rau, C Smiley, PM Conneally), Johns Hopkins University (F McMahon, D Meyers, S Simpson, M McInnis, OC Stine), the NIMH Intramural Program (SD Datera-Wadleigh, LR Goldin, JJ Guroff, ME Maxwell, D Kazuba, PV Gejman, J Badner, A Sanders), and Washington University (JP Rice, L Bierut, A Goate). A genomic survey of bipolar illness in the NIMH Genetics Initiative pedigrees: A preliminary report. Am J Med Gen B Neuropsychiatr Genet 1997; 74:227-237. Download PDF

Rice JP, Goate A, Williams JT, Bierut L, Dorr D, Wu W, Shears S, Gopalakrishnan G, Edenberg HJ, Foroud T, Nurnberger JI, Gershon ES, Detera-Wadleigh SD, Goldin LR, Guroff JJ, McMahon FJ, Simpson S, MacKinnon DF, McInnis M, Stine OC, DePaulo JR, Blehar MC, Reich T. Initial genome scan of the NIMH Genetics Initiative bipolar pedigrees: Chromosomes 1, 6, 8, 10, and 12. Am J Med Genet B Neuropsychiatr Genet 1997; 74:247-253. Download PDF

Stine OC, McMahon FJ, Chen L-S, Xu J, Meyers DA, MacKinnon DF, Simpson S, McInnis MG, Rice JP, Goate A, Reich T, Edenberg HJ, Foroud T, Nurnberger JI, Detera-Wadleigh SD, Goldin LR, Guroff J, Gershon, ES, Blehar MC, DePaulo JR. Initial genome screen for bipolar disorder in the NIMH Genetics Initiative pedigrees: Chromosomes 2, 11, 13, 14 and X. Am J Med Genet B Neuropsychiatr Genet 1997; 74:263-269. Download PDF

Blehar MC, Faraone SV, Zeller PJ, Nurnberger JI, Tsuang MT, Kirch DG, Shore D, Gershefski JMA, Reich T, Cloninger CR, Rau NL, DePaulo JR, Kaufmann CA, Harkavy-Friedman J, Malaspina D, Weise RE. Differentiation of schizoaffective bipolar disorder from bipolar disorder and schizophrenia. Depression 1996; 3:309-315.

 

Brain Function

Nooner KB, Colcombe SJ, Tobe RH, Mennes M, Benedict MM, Moreno AL, Panek LJ, Brown S, Zavitz ST, Li Q, Sikka S, Gutman D, Bangaru S, Schlachter RT, Kamiel SM, Anwar AR, Hinz CM, Kaplan MS, Rachlin AB, Adelsberg S, Cheung B, Khanuja R, Yan C, Craddock CC, Calhoun V, Courtney W, King M, Wood D, Cox CL, Kelly AM, Di Martino A, Petkova E, Reiss PT, Duan N, Thomsen D, Biswal B, Coffey B, Hoptman MJ, Javitt DC, Pomara N, Sidtis JJ, Koplewicz HS, Castellanos FX, Leventhal BL, Milham MP. The NKI-Rockland Sample: A Model for Accelerating the Pace of Discovery Science in Psychiatry. Front Neurosci 2012 Oct 16; 6:152. PMCID: PMC3472598

 

Controls

Sanders AR, Levinson DF, Duan J, Dennis JM, Li R, Kendler KS, Rice JP, Shi J, Mowry BJ, Amin F, Silverman JM, Buccola NG, Byerley WF, Black DW, Freedman R, Cloninger CR, Gejman PV. The Internet-based MGS2 control sample: self report of mental illness. Am J Psychiatry 2010 Jul; 167(7):854-865. PMID: 20516154

Sullivan PF, Lin D, Tzeng JY, van den Oord E, Perkins D, Stroup TS, Wagner M, Lee S, Wright FA, Zou F, Liu W, Downing AM, Lieberman J, Close SL; Collaborators: Gejman PV, Sanders AR, Amin F, Buccola N, Byerley W, Cloninger CR, Crowe R, Black D, Freedman R, Levinson D, Mowry B, Silverman J. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry 2008; 13(6):570-584. PMID: 18347602

Evans LM, Akiskal HS, Greenwood TA, Nievergelt CM, Keck PD Jr, McElroy SL, Sadovnick AD, Remick RA, Schork NJ, Kelsoe JR. Suggestive linkage of a chromosomal locus on 18p11 to cyclothymic temperament in bipolar disorder families. Am J Med Genet Neuropsychiatr Genet 2008; 147(3):326-332. PMID: 18081158

Barrett TB, Emberton JE, Nievergelt CM, Liang SG, Hauger RL, Eskin E, Schork NJ, Kelsoe JR. Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutation.  Psychiatr Genet 2007; 17(6):315-322. PMID: 18075471

Greenwood TA, Schork NJ, Eskin E, Kelsoe JR. Identification of additional variants within the human dopamine transporter gene provides further evidence for an association with bipolar disorder in two independent samples.  Mol Psychiatry 2006; 11:125-133.  Download PDF

Lohoff FW, Dahl JP, Ferraro TN, Arnold SE, Gallinat J, Sander T, Berrettini WH. Variations in the vesicular monoamine transporter I gene (VMAT/SLCI8AI) are associated with bipolar I disorder. Neuropsychopharmacology 2006; 31: 2739-2747. Download PDF

Nievergelt CM, Kripke DF, Barrett TB, Burg E, Remick RA, Sadovnick AD, McElroy SL, Keck Jr PE, Schork NJ, Kelsoe JR. Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder.  Am J Med Gen B Neuropsychiatr Genet 2006; 141B:234-241.  Download PDF

Gershon ES. Bipolar illness and schizophrenia as oligogenic diseases: implications for the future.  Biol Psychiatry 2005; 47:240-244.  Download PDF

Hattori E, Liu C, Zhu H, Gershon ES. Genetic tests of biologic systems in affective disorders.  Mol Psychiatry 2005; 10:719-740.  Download PDF

Nievergelt CM, Kripke DF, Remick RA, Sadovnick AD, McElroy SL, Keck PR, Kelsoe JR. Examination of the clock gene Cryptochrome 1 in bipolar disorder: mutational analysis and absence of evidence for linkage or association.  Psychiatr Genet 2005; 15:45-52.  Download PDF

Nguyen TH, Liu C, Gershon ES, McMahon FJ. Frequency Finder: a multi-source web application for collection of public allele frequencies of SNP markers.  Bioinformatics 2004; 20:439-443. Download PDF

Barrett TB, Hauger RL, Kennedy JL, Sadovnick AD, Remick RA, Keck PE, McElroy SL, Alexander M, Shaw SH, Kelsoe JR. Evidence that a single nucleotide polymorphism in the promoter of the G protein receptor kinase 3 is associated with bipolar disorder.  Mol Psychiatry 2003; 8:546-557.  Download PDF

Hattori E*, Liu C*, Badner JA, Bonner TI, Christian SL, Maheshwari M, Detera-Wadleigh SD, Gibbs RA, Gershon ES. Polymorphisms at the G72/G30 gene locus on 13q33 are associated with bipolar disorder in two independent pedigree series.  Am J Hum Genet 2003; 72:1131-1140. (* shared first authorship)   Download PDF

Liu C, Bonner TI, Nguyen T, Lyons JL, Christian SL, Gershon ES. DNannotator: annotation software tool kit for regional genomic sequences.  Nucleic Acids Res 2003; 31:3729-3735.  Download PDF

Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia.  Mol Psychiatry 2002; 7:405-411.  Download PDF

Badner JA, Gershon ES. Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7.  Mol Psychiatry 2002; 7:56-66.  Download PDF

Liu C, Badner JA, Christian SL, Guroff JJ, Detera-Wadleigh SD, Gershon ES. Fine mapping supports previous linkage evidence for a bipolar disorder susceptibility locus on 13q32.  Am J Med Genet B Neuropsychiatr Genet 2001; 105:375-380. Download PDF

 

Depression

Cocchi E, Fabbri C, Han C, Lee SJ, Patkar AA, Masand PS, Pae CU, Serretti A. Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. BMC Psychiatry 2016 Apr 18; 16:106. PMCID: PMC4836090

Kripke DF. When our body clocks run late: does it make us depressed? Ann Transl Med 2016 May; 4(9):178. PMCID: PMC4876263

Pearson R, Palmer RH, Brick LA, McGeary JE, Knopik VS, Beevers CG. Additive genetic contribution to symptom dimensions in major depressive disorder. J Abnorm Psychol 2016 May; 125(4):495-501. PMCID: PMC4852390

Palmers RC, Beevers CG, Brick LA, McGeary JE, Knopik VS. A preliminary study of genetic variation in the dopaminergic and serotonergic systems and genome-wide additive genetic effects on depression severity and treatment response. Clin Psychol Sci 2016 (in press).

Fabbri C, Crisafulli C, Gurwitz D, Stingl J, Calati R, Albani D, Forloni G, Calabrò M, Martines R, Kasper S, Zohar J, Juven-Wetzler A, Souery D, Montgomery S, Mendlewicz J, Girolamo GD, Serretti A. Neuronal cell adhesion genes and antidepressant response in three independent samples Pharmacogenomics J 2015 Dec; 15(6):538-548. PMID: 25850031

Kripke DF, Elliott JA, Welsh DK, Youngstedt SD. Photoperiodic and circadian bifurcation theories of depression and mania. F1000Res 2015 May 6; 4:107. PMCID: PMC4490783

Antypa N, Drago A, Serretti A. Genomewide interaction and enrichment analysis on antidepressant response. Psychol Med 2014 Mar; 44(4):753-765. PMID: 23809733

Arias B, Fabbri C, Serretti A, Drago A, Mitjans M, Gastó C, Catalán R, Fañanás L. DISC1-TSNAX and DAOA genes in major depression and citalopram efficacy. J Affect Disord 2014 Oct; 168:91-97. PMID: 25043320

Fabbri C, Marsano A, Albani D, Chierchia A, Calati R, Drago A, Crisafulli C, Calabrò M, Kasper S, Lanzenberger R, Zohar J, Juven-Wetzler A, Souery D, Montgomery S, Mendlewicz J, Serretti A.  PPP3CC gene: a putative modulator of antidepressant response through the B-cell receptor signaling pathway.  Pharmacogenomics J 2014 Oct; 14(5):463-472. PMID: 24709691

Fabbri C, Drago A, Serretti A.  Early antidepressant efficacy modulation by glutamatergic gene variants in the STAR*D.  Eur Neuropsychopharmacol 2013 Jul; 23(7):612-621. PMID: 22884879

Kripke DF, Nievergelt CM, Tranah GJ, Murray SS, Rex KM, Grizas AP, Hahn EK, Lee H-J, Kelsoe JR, Kline LE.  FMR1, circadian genes and depression: suggestive associations or false discovery?  J Circadian Rhythms 2013 Mar 23; 11(1):3.  PMCID: PMC3627611

Murphy E, Hou L, Maher BS, Woldehawariat G, Kassam L, Akula N, Laje G, McMahon FJ.  Race, genetic ancestry and response to antidepressant treatment for major depression.  Neuropsychopharmacology 2013 Dec; 38(13):2598-2606. PMCID: PMC3828530

Niitsu T, Fabbri C, Bentini F, Serretti A. Pharmacogenetics in major depression: a comprehensive meta-analysis. Prog Neuropsychopharmacol Biol Psychiatry 2013 Aug 1; 45:183-194. PMID: 23733030

Smith RM, Papp AC, Webb A, Ruble CL, Munsie LM, Nisenbaum LK, Kleinman JE, Lipska BK, Sadee W.  Multiple regulatory variants modulate expression of 5-hydroxytryptamine 2A receptors in human cortex.  Biol Psychiatry 2013 Mar 15; 73(6):546-554.  PMCID: PMC3582836

Alemi F, Zargoush M, Erdman H, Vang J, Epstein S, Ayman F.  Genetic markers anticipate response to citalopram in a majority of patients.  Psychiatr Genet 2011 Dec; 21(6):287-293.  PMID: 21642894

Shyn SI, Shi J, Kraft JB, Potash JB, Knowles JA, Weissman MM, Garriock HA, Yokoyama JS, McGrath PJ, Peters EJ, Scheftner WA, Coryell W, Lawson WB, Jancic D, Gejman PV, Sanders AR, Holmans P, Slager SL, Levinson DF, Hamilton SP.  Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.  Mol Psychiatry 2011; 16(2):202-215.  PMID: 20038947

Perlis RH, Huang J, Purcell S, Fava M, Rush AJ, Sullivan PF, Hamilton SP, McMahon FJ, Schulze T, Potash JB, Zandi PP, Willour VL, Penninx BW, Boomsma DI, Vogelzangs N, Middeldorp CM, Rietschel M, Nöthen M, Cichon S, Gurling H, Bass N, McQuillin A, Hamshere M; Wellcome Trust Case Control Consortium Bipolar Disorder Group, Craddock N, Sklar P, Smoller JW.  Genome-wide association study of suicide attempts in mood disorder patients.  Am J Psychiatry 2010; 167(12):1499-1507.  PMID: 21041247

Huang J, Perlis RH, Lee PH, Rush AJ, Fava M, Sachs GS, Lieberman J, Hamilton SP, Sullivan P, Sklar P, Purcell S, Smoller JW.  Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.  Am J Psychiatry 2010; 167(10):1254-1263.  PMID: 20713499

Garriock HA, Tanowitz M, Kraft JB, Dang VC, Peters EJ, Jenkins GD, Reinalda MS, McGrath PJ, von Zastrow M, Slager SL, Hamilton SP.  Association of mu-opioid receptor variants and response to citalopram treatment in major depressive disorder.  Am J Psychiaty 2010; 167(5):565-573.  PMID: 20194481

Garriock HA, Kraft JB, Shyn SI, Peters EJ, Yokoyama JS, Jenkins GD, Reinalda MS, Slager SL, McGrath PJ, Hamilton SP.  A genomewide association study of citalopram response in major depressive disorder.  Biol Psychiatry 2010; 67(2):133-138.  PMID: 19846067

Kripke DF, Nievergelt CM, Joo E, Shekhtman T, Kelsoe JR.  Circadian polymorphisms associated with affective disorders.  J Circadian Rhythms 2009 Jan 23; 7:2.  PMCID: PMC2661876

Holmans P, Weissman MM, Zubenko GS, Scheftner WA, Crowe RR, DePaulo JR, Knowles JA, Zubenko WN, Murphy-Eberenz K, Marta DH, Boutelle S, McInnis MG, Adams P, Gladis M, Steele J, Miller EB, Potash JB, MacKinnon DF, Levinson DF. Genetics of recurrent early-onset major depression (GenRED): Final genome scan report. Am J Psychiatry 2007; 164:248-258. PMID: 17267787

Levinson DF, Evgrafov OV, Knowles JA, Potash JB, Weissman MM, Scheftner WA, DePaulo JR, Crowe RR, Murphy-Eberenz K, Marta DH, McInnis MG, Adams P, Gladis M, Miller EB, Thomas J, Holmans P. Genetics of recurrent early-onset major depression (GenRED): Significant linkage on chromosome 15q25-q26 after fine mapping with single nucleotide polymorphism markers. Am J Psychiatry 2007; 164:259-264. PMID: 17267786

Mondimore FM, Zandi PP, MacKinnon DF, McInnis MG, Miller EB, Schweizer B, Crowe RP, Scheftner WA, Weissman MM, Levinson DF, DePaulo JR, Potash JB. A comparison of the familiality of chronic depression in recurrent early-onset depression pedigrees using different definitions of chronicity. J Affective Disord 2007; 100:171-177. PMID: 17126912

Payne JL, Roy PS, Murphy-Eberenz K, Weismann MM, Swartz KL, McInnis MG, Nwulia E, Mondimore FM, MacKinnon DF, Miller EB, Nurnberger JI, Levinson DF, DePaulo JR, Potash JB. Reproductive cycle-associated mood symptoms in women with major depression and bipolar disorder. J Affective Disord 2007; 99:221-229. PMID: 17011632

Verma R, Cutler DJ, Holmans P, Knowles JA, Crowe RR, Scheftner WA, Weissman MM, DePaulo JR, Levinson DF, Potash JB. Investigating the role of p11 (S100A10) sequence variation in susceptibility to major depression. Am J Med Genet B Neuropsychiatr Genet 2007; 144B:1079-1082. PMID: 17510952

Mondimore FM, Zandi PP, MacKinnon DF, McInnis MG, Miller EB, Crowe RP, Scheftner WA, Marta DH, Weissman MM, Levinson DF, Murphy-Ebenez KP, DePaulo JR, Potash JB. Familial aggregation of illness chronocity in recurrent, early-onset major depression pedigrees. Am J Psychiatry 2006; 163:1554-1560.

Murphy-Eberenz K, Zandi PP, March D, Crowe RR, Scheftner WA, Alexander M, McInnis MG, Coryell W, Adams P, DePaulo JR, Miller EB, Marta DH, Potash JB, Payne J, Levinson DF. Is perinatal depression familial? J Affective Disord 2006; 90:49-55.

 

Induced Pluripotent Stem Cells (iPSC)

D'Aiuto L, Di Maio R, Heath B, Raimondi G, Milosevic J, Watson AM, Bamne M, Parks WT, Yang L, Lin B, Miki T, Mich-Basso JD, Arav-Boger R, Sibille E, Sabunciyan S, Yolken R, Nimgaonkar V. Human induced pluripotent stem cell-derived models to investigate human cytomegalovirus infection in neural cells. PLoS One 2012; 7(11):e49700. Erratum in: PLoS One 2014; 9(1). PMCID: PMC3507916

 

Post-traumatic Stress Disorder (PTSD)

Dunlop BW, Kaye JL, Youngner C, Rothbaum B. Assessing Treatment-Resistant Posttraumatic Stress Disorder: The Emory Treatment Resistance Interview for PTSD (E-TRIP). Behav Sci (Basel) 2014 Dec 8; 4(4):511-527. PMCID: PMC4287702

Dunlop BW, Rothbaum BO, Binder EB, Duncan E, Harvey PD, Jovanovic T, Kelley ME, Kinkead B, Kutner M, Iosifescu DV, Mathew SJ, Neylan TC, Kilts CD, Nemeroff CB, Mayberg HS. Evaluation of a corticotropin releasing hormone type 1 receptor antagonist in women with posttraumatic stress disorder: study protocol for a randomized controlled trial. Trials 2014 Jun 21; 15:240. PMCID: PMC4082482

Kaye JL, Dunlop BW, Iosifescu DV, Mathew SJ, Kelley ME, Harvey PD. Cognition funtional capacity, and self-reported disability in women with posttraumatic stress disorder: examining the convergence of performance-based measures and self-reports. J Psychiatr Res 2014 Oct; 57:51-57. PMCID: PMC4127348

 

Psychiatric GWAS Consortium (PGC)

Drago A, Crisafulli C, Serretti A. The genetics of antipsychotic induced tremors: a genome-wide pathway analysis on the STEP-BD SCP sample. Am J Med Genet B Neuropsychiatr Genet 2011 Dec; 156B(8):975-986. PMID: 21990027

Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar P, Ripke S, Scott LJ, Andreassen OA, Cichon S, Craddock N, Edenberg HJ, Nurnberger JI Jr, Rietschel M, Blackwood D, Corvin A, Flickinger M, Guan W, Mattingsdal M, McQuillin A, Kwan P, Weinker TF, Daly M, Dudbridge F, Holmans PA, Lin D, Burmeister M, Greenwood TA, Hamshere ML, Muglia P, Smith EN, Zandi PP, Nievergelt CM, McKinney R, Shilling PD, Schork NJ, Bloss CS, Foroud T, Koller DL, Gershon ES, Liu C, Badner JA, Scheftner WA, Lawson WB, Nwulia EA, Hipolito M, Coryell W, Rice JP, Byerley W, McMahon FJ, Schulze TG, Berrettini W, Lohoff FW, Potash JB, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Breuer R, Meier S, Strohmaier J, Witt SH, Tozzi F, Farmer A, McGuffin P, Strauss J, Xu W, Kennedy JL, Vincent JB, Matthews K, Day R, Ferreira MA, O'Dushlaine C, Perlis R, Raychaudhuri S, Ruderfer D, Hyoun PL, Smoller JW, Li J, Absher D, Thompson RC, Meng FG, Schatzberg AF, Bunney WE, Barchas JD, Jones EG, Watson SJ, Myers RM, Akil H, Boehnke M, Chambert K, Moran J, Scolnick E, Djurovic S, Melle I, Morken G, Gill M, Morris D, Quinn E, Mühleisen TW, Degenhardt FA, Mattheisen M, Schumacher J, Maier W, Steffens M, Propping P, Nöthen MM, Anjorin A, Bass N, Gurling H, Kandaswamy R, Lawrence J, McGhee K, McIntosh A, McLean AW, Muir WJ, Pickard BS, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Williamson R, Young AH, Ferrier IN, Stefansson K, Stefansson H, Thornorgeirsson T, Steinberg S, Gustafsson O, Bergen SE, Nimgaonkar V, Hultman C, Landén M, Lichtenstein P, Sullivan P, Schalling M, Osby U, Backlund L, Frisén L, Langstrom N, Jamain S, Leboyer M, Etain B, Bellivier F, Petursson H, Sigur Sson E, Müller-Mysok B, Lucae S, Schwarz M, Schofield PR, Martin N, Montgomery GW, Lathrop M, Oskarsson H, Bauer M, Wright A, Mitchell PB, Hautzinger M, Reif A, Kelsoe JR, Purcell SM. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 2011 Sep 18; 43(10):977-983. PMID: 21926972

Sullivan PF. The psychiatric GWAS consortium: big science comes to psychiatry. Neuron 2010; 68(2):182-186. PMCID: PMC2991765

The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium, Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA, Lin DY, Duan J, Ophoff RA, Andreassen OA, Scolnick E, Cichon S, St Clair D, Corvin A, Gurling H, Werge T, Rujescu D, Blackwood DH, Pato CN, Malhotra AK, Purcell S, Dudbridge F, Neale BM, Rossin L, Visscher PM, Posthuma D, Ruderfer DM, Fanous A, Stefansson H, Steinberg S, Mowry BJ, Golimbet V, De Hert M, Jönsson EG, Bitter I, Pietiläinen OP, Collier DA, Tosato S, Agartz I, Albus M, Alexander M, Amdur RL, Amin F, Bass N, Bergen SE, Black DW, Børglum AD, Brown MA, Bruggeman R, Buccola NG, Byerley WF, Cahn W, Cantor RM, Carr VJ, Catts SV, Choudhury K, Cloninger CR, Cormican P, Craddock N, Danoy PA, Datta S, de Haan L, Demontis D, Dikeos D, Djurovic S, Donnelly P, Donohoe G, Duong L, Dwyer S, Fink-Jensen A, Freedman R, Freimer NB, Friedl M, Georgieva L, Giegling I, Gill M, Glenthøj B, Godard S, Hamshere M, Hansen M, Hansen T, Hartmann AM, Henskens FA, Hougaard DM, Hultman CM, Ingason A, Jablensky AV, Jakobsen KD, Jay M, Jürgens G, Kahn RS, Keller MC, Kenis G, Kenny E, Kim Y, Kirov GK, Konnerth H, Konte B, Krabbendam L, Krasucki R, Lasseter VK, Laurent C, Lawrence J, Lencz T, Lerer FB, Liang KY, Lichtenstein P, Lieberman JA, Linszen DH, Lönnqvist J, Loughland CM, Maclean AW, Maher BS, Maier W, Mallet J, Malloy P, Mattheisen M, Mattingsdal M, McGhee KA, McGrath JJ, McIntosh A, McLean DE, McQuillin A, Melle I, Michie PT, Milanova V, Morris DW, Mors O, Mortensen PB, Moskvina V, Muglia P, Myin-Germeys I, Nertney DA, Nestadt G, Nielsen J, Nikolov I, Nordentoft M, Norton N, Nöthen MM, O'Dushlaine CT, Olincy A, Olsen L, O'Neill FA, Orntoft TF, Owen MJ, Pantelis C, Papadimitriou G, Pato MT, Peltonen L, Petursson H, Pickard B, Pimm J, Pulver AE, Puri V, Quested D, Quinn EM, Rasmussen HB, Réthelyi JM, Ribble R, Rietschel M, Riley BP, Ruggeri M, Schall U, Schulze TG, Schwab SG, Scott RJ, Shi J, Sigurdsson E, Silverman JM, Spencer CC, Stefansson K, Strange A, Strengman E, Stroup TS, Suvisaari J, Terenius L, Thirumalai S, Thygesen JH, Timm S, Toncheva D, van den Oord E, van Os J, van Winkel R, Veldink J, Walsh D, Wang AG, Wiersma D, Wildenauer DB, Williams HJ, Williams NM, Wormley B, Zammit S, Sullivan PF, O'Donovan MC, Daly MJ, Gejman PV. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011 Sep 18; 43(10):969-976. PMID: 21926974

 

Schizophrenia

Calabrò M, Drago A, Sidoti A, Serretti A, Crisafulli C. Genes involved in pruning and inflammation are enriched in a large mega-sample of patients affected by Schizophrenia and Bipolar Disorder and controls. Psychiatry Res 2016 Apr 30; 238:165. PMCID: PMC4532584

Cocchi E, Drago A, Serretti A. Hippocampal Pruning as a New Theory of Schizophrenia Etiopathogenesis. Mol Neurobiol 2016 Apr 24; 53(3):2065-2081. PMID: 25902861

Cressant A, Dubreuil V, Kong J, Kranz TM, Lasarini F, Launay JM, Callebert J, Sap J, Malaspina D, Granon S, Harroch S. Loss-of-function of PTPR γ and ζ, observed in sporadic schizophrenia, causes brain region-specific deregulation of monoamine levels and altered behavior in mice. Psychopharmacology (Berl) 2016 Dec 26 (in press). PMID: 25902861

Greenwood TA, Light GA, Swerdlow NR, Calkins ME, Green MF, Gur RE, Gur RC, Lazzeroni LC, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Sugar CA, Tsuang DW, Tsuang MT, Turetsky BI, Freedman R, Braff DL. Gating Deficit Heritability and Correlation with Increased Clinical Severity in Schizophrenia Patients with Positive Family History. Am J Psychiatry 2016 Apr 1; 173(4):385-391. PMCID: PMC4933520

Hudson ZD, Miller BJ. Meta-Analysis of Cytokine and Chemokine Genes in Schizophrenia. Clin Schizophr Relat Psychoses 2016 Jul 25 (in press). PMID: 27454212

Kranz TM, Berns A, Shields J, Rothman K, Walsh-Messinger J, Goetz RR, Chao MV, Malaspina D. Phenotypically distinct subtypes of psychosis accompany novel or rare variants in four different signaling genes. EBioMedicine 2016 Apr; 6:206-214. PMCID: PMC4856793

Malapina D, Kranz TM, Heguy A, Harroch S, Mazgaj R, Rothman K, Berns A, Hasan S, Antonius D, Goetz R, Lazar M, Chao MV, Gonen O. Prefrontal neuronal integrity predicts symptoms and cognition in schizophrenia and is sensitive to genetic heterogeneity. Schizophr Res 2016 Apr; 172(1-3):94-100. PMCID: PMC4894496

Montano C, Taub MA, Jaffe A, Briem E, Feinberg JI, Trygvadottir R, Idrizi A, Runarsson A, Berndsen B, Gur RC, Moore TM, Perry RT, Fugman D, Sabunciyan S, Yolken RH, Hyde TM, Kleinman JE, Sobell JL, Pato CN, Pato MT, Go RC, Nimgaonkar V, Weinberger DR, Braff D, Gur RE, Fallin MD, Feinberg AP. Association of DNA Methylation Differences with Schizophrenia in an Epigenome-Wide Association Study. JAMA Psychiatry 2016 May 1; 73(5):506-514. PMID: 27074206

Topol A, Zhu S, Hartley BJ, English J, Hauberg ME, Tran N, Rittenhouse CA, Simone A, Ruderfer DM, Johnson J, Readhead B, Hadas Y, Gochman PA, Wang YC, Shah H, Cagney G, Rapoport J, Gage FH, Dudley JT, Sklar P, Mattheisen M, Cotter D, Fang G, Brennand KJ. Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells. Cells Rep 2016 May 3; 15(5):1024-1036. PMCID: PMC4856588

Xu J, Hartley BJ, Kurup P, Phillips A, Topol A, Xu M, Ononenyi C, Foscue E, Ho SM, Baguley TD, Carty N, Barros CS, Müller U, Gupta S, Gochman P, Rapoport J, Ellman JA, Pittenger C, Aronow B, Nairn AC, Nestor MW, Lombroso PJ, Brennand KJ. Inhibition of STEP61 ameliorates deficits in mouse and hiPSC-based schizophrenia models. Mol Psychiatry 2016 Oct 18 (in press). PMID: 27752082

Buckley PF, Schooler NR, Goff DC, Hsiao J, Kopelowicz A, Lauriello J, Manschreck T, Mendelowitz AJ, Miller del D, Severe JB, Wilson DR, Ames D, Bustillo J, Mintz J, Kane JR; PROACTIVE Study. Comparison of SGA oral medications and a long-acting injectable SGA: the PROACTIVE study. Schizophr Bull 2015 Mar;41(2):449-459. PMCID: PMC4332934

Crisafulli C, Drago A, Calabrò M, Spina E, Serretti A. A molecular pathway analysis informs the genetic background at risk for schizophrenia. Prog Neuropsychopharmacol 2015 Jun 3; 59:21-30. PMID: 25554435

Gur RC, Braff DL, Calkins ME, Dobie DJ, Freedman R, Green MF, Greenwood TA, Lazzeroni LC, Light GA, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Sprock J, Stone WS, Sugar CA, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Gur RE. Neurocognitive performance in family-based and case-control studies of schizophrenia. Schizophr Res 2015 Apr; 163(1-3):17-23. PMCID: PMC4441547

Kranz TM, Goetz RR, Walsh-Messinger J, Goetz D, Antonius D, Dolgalev I, Heguy A, Seandel M, Malaspina D, Chao MV. Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk. Schizophr Res 2015 Oct; 168(1-2):421-428. PMCID: PMC4591185

Kranz TM, Harroch S, Manor O, Lichtenberg P, Friedlander Y, Seandel M, Harkavy-Friedman J, Walsh-Messinger J, Dolgalev I, Heguy A, Chao MV, Malaspina D. De novo mutations from sporadic schizophrena cases highlight important signaling genes in an idependent sample. Schizophr Res 2015 Aug; 166(1-3):119-124. PMCID: PMC4512856

Radant AD, Millard SP, Braff DL, Calkins ME, Dobie DJ, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Lazzeroni LC, Light GA, Meichle SP, Nuechterlein KH, Olincy A, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Sugar CA, Tsuang MT, Turetsky BI, Tsuang DW. Robust differences in antisaccade performance exist between COGS schizophrenia cases and controls regardless of recruitment strategies. Schizophr Res 2015 Apr; 163(1-3):47-52. PMCID: PMC4382408

Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanaugh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG; Taiwanese Trios Exome Sequencing Consortium, Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry 2015 Jul 21; 5:e607. PMID: 26196440

Seidman LJ, Hellemann G, Nuechterlein KH, Greenwood TA, Braff DL, Cadenhead KS, Calkins ME, Freedman R, Gur RE, Gur RC, Lazzeroni LC, Light GA, Olincy A, Radant AD, Siever LJ, Silverman JM, Sprock J, Stone WS, Sugar C, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Green MF. Factor structure and heritability of endophenoypes in schizophrenia: findings from the Consortium on the Genetics of Schizophrenia (COGS-1). Schizophr Res 2015 Apr; 163(1-3):73-79. PMID: 25682549

Stone WS, Mesholam-Gately RI, Braff DL, Calkins ME, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Lazzeroni LC, Light GA, Nuechterlein KH, Olincy A, Radant AD, Siever LJ, Silverman JM, Sprock J, Sugar CA, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Seidman LJ. California Verbal Learning Test-II performance in schizophrenia as a function of ascertainment strategy: comparing the first and second phases of the Consortium on the Genetics of Schizophrenia (COGS). Schizophr Res 2015 Apr; 163(1-3):32-37. PMID: 25497440

Dickinson D, Straub RE, Trampush JW, Gao Y, Feng N, Xie B, Shin JH, Lim HK, Ursini G, Bigos KL, Kolachana B, Hashimoto R, Takeda M, Baum GL, Rujescu D, Callicott JH, Hyde TM, Berman KF, Kleinman JE, Weinberger DR. Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals. JAMA Psychiatry 2014 Jun; 71(6):647-656. PMCID: PMC4160812

Drago A, Giegling I, Schäfer M, Hartmann AM, Konte B, Friedl M, Serretti A, Rujescu D. Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment. Pharmacogenet Genomics 2014 Jun; 24(6):314-319. PMID: 24751813

Light G, Greenwood TA, Swerdlow NR, Calkins ME, Freedman R, Green MF, Gur RE, Gur RC, Lazzeroni LC, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Sprock J, Stone WS, Sugar CA, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. Comparison of the heritability of schizophrenia and endophenotypes in the COGS-1 family study. Schizophr Bull 2014 Nov; 40(6): 1404-1411. PMCID: PMC4193725

McEvoy JP, Byerly M, Hamer RM, Dominik R, Swartz MS, Rosenheck RA, Ray N, Lamberti JS, Buckley PF, Wilkins TM, Stroup TS. Effectiveness of paliperidone palmitate vs haloperidol decanoate for maintenance treatment of schizophrenia: a randomized clinical trial. JAMA 2014 Oct 8;312(14):1473. PMCID: PMC4101890

Schmeidler J, Lazzeroni LC, Swerdlow NR, Ferreira RP, Braff DL, Calkins ME, Cadenhead KS, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Olincy A, Nuechterlein KH, Radant AD, Seidman LJ, Siever LJ, Stone WS, Sprock J, Sugar CA, Tsuang DW, Tsuang MT, Turetsky BI, Silverman JM. Paternal age of schizophrenia probands and endophenotypic differences from unaffected siblings. Psychiatry Res 2014 Sep 30; 219(1):67-71. PMCID: PMC4110721

Swerdlow NR, Light GA, Sprock J, Calkins ME, Green MF, Greenwood TA, Gur RE, Gur RC, Lazzeroni LC, Nuechterlein KH, Radant AD, Ray A, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Sugar CA, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. Deficient prepulse inhibition in schizophrenia detected by the multi-site COGS. Schizophr Res 2014 Feb; 152(2-3):503-512. PMID: 24405980

Tsuang D, Esterberg M, Braff D, Calkins M, Cadenhead K, Dobie D, Freedman R, Green MF, Greenwood T, Gur R, Gur R, Horan W, Lazzeroni LC, Light GA, Millard SP, Olincy A, Nuechterlein K, Seidman L, Siever L, Silverman J, Stone W, Sprock J, Sugar C, Swerdlow N, Tsuang M, Turetsky B, Radant A. Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia? PLoS One 2014 Feb 11; 9(2):e88379. PMCID: PMC3921166

Vieland VJ, Walters KA, Lehner T, Azaro M, Tobin K, Huang Y, Brzustowicz LM. Revisiting schizophrenia linkage data in the NIMH repository: reanalysis of regularized data across multiple studies. Am J Psychiatry 2014 Mar 1; 171(3):350-359. PMID: 24170318

Calkins ME, Ray A, Gur RC, Freedman R, Green MF, Greenwood TA, Light GA, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Sugar C, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL, Lazzeroni LC, Gur RE. Sex differences in familiality effects on neurocognitive performance in schizophrenia. Biol Psychiatry 2013 May 15; 73(10):976-984. PMCID: PMC3954126

Giegling I, Balzarro B, Porcelli S, Schäfer M, Hartmann AM, Friedl M, Konte B, Krämer P, Möller HJ, De Ronchi D, Stassen HH, Serretti A, Rujescu D. Influence of ANKK1 and DRD2 polymorphisms in response to haloperidol. Eur Arch Psychiatry Clin Neurosci 2013 Feb; 263(1):65-74. PMID: 22893251

Greenwood TA, Swerdlow NR, Gur RE, Cadenhead KS, Calkins ME, Dobie DJ, Freedman R, Green MF, Gur RC, Lazzeroni LC, Nuechterlein KH, Olincy A, Radant AD, Ray A, Shork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Sugar CA, Tsuang DW, Tsuang MT, Turetsky BI, Light GA, Braff DL. Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. Am J Psychiatry 2013 May; 170(5):521-532. PMCID: PMC3878873

Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAATNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell 2013 Aug 1; 154(3):518-529. PMCID: PMC3894107

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW. Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia from Exome Sequencing in Multiplex Families. JAMA Psychiatry 2013 Jun; 70(6):582-590. PMID: 23553203

Drago A, Giegling I, Schäfer M, Hartmann AM, Möller HJ, De Ronchi D, Stassen HH, Serretti A, Rujescu D. No association of a set of candidate genes on haloperidol side effects. PLoS One 2012; 7(10):e44852. PMCID: PMC3471928

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormick M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012 Aug 10; 91(2):293-302. PMCID: PMC3415540

Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM, Shianna KV, He M, Cirulli ET, Gumbs CE, Zhao Q, Campbell CR, Hong L, Rosenquist P, Putkonen A, Hallikainen T, Repo-Tiihonen E, Tiihonen J, Levy DL, Meltzer HY, Goldstein DB. Exome sequencing followed by large-scale genotyping suggests a limited role for moderate rare risk factors of strong effect in schizophrenia. Am J Hum Genet 2012 Aug 10; 91(2):303-312. PMCID: PMC3415532

Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F, Szoke A, Ribolsi M, Magni V, Siracusano A, Sperling S, Rossner M, Christiansen C, Kiemeney LA, Franke B, van den Berg LH, Veldink J, Curran S, Bolton P, Poot M, Staal W, Rehnstrom K, Kilpinen H, Freitag CM, Meyer J, Magnusson P, Saemundsen E, Martsenkovsky I, Bikshaieva I, Martsenkovska I, Vashchenko O, Raleva M, Paketchieva K, Stefanovski B, Durmishi N, Pejovic Milovancevic M, Lecic Tosevski D, Silagadze T, Naneishvili N, Mikeladze N, Surguladze S, Vincent JB, Farmer A, Mitchell PB, Wright A, Schofield PR, Fullerton JM, Montgomery GW, Martin NG, Rubino IA, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Terenius L, Jönsson EG, Bakker S, van Os J, Jablensky A, Leboyer M, Bramon E, Powell J, Murray R, Corvin A, Gill M, Morris D, O'Neill FA, Kendler K, Riley B; Wellcome Trust Case Control Consortium S, Craddock N, Owen MJ, O'Donovan MC, Thorsteinsdottir U, Kong A, Ehrenreich H, Carracedo A, Golimbet V, Andreassen OA, Børglum AD, Mors O, Mortensen PB, Werge T, Ophoff RA, Nöthen MM, Rietschel M, Cichon S, Ruggeri M, Tosato S, Palotie A, St Clair D, Rujescu D, Collier DA, Stefansson H, Stefansson K. Common variant at 16p11.2 conferring risk of psychosis. Mol Psychiatry 2012 Nov 20. PMID: 23164818

Buckley PF, Pillai A, Schooler NR, Miller DD, Goff D, Kopelowicz A, Lauriello J, Manschreck T, Mendelowitz A, Wilson D, Kane JM. Brain Derived Neurotrophic Factor as a Potential Biomarker for Relapse in Schizophrenia: Initial Observations from the PROACTIVE (Preventing Relapse in Schizophrenia: Oral Antipsychotics Compared to Injectables: Evaluating Efficacy) Study. Schizophr Bull 2011 Mar;37:83-83.Conference Paper

Greenwood TA, Lazzeroni LC, Murray SS, Cadenhead KS, Calkins ME, Dobie DJ, Green MF, Gur RE, Gur RC, Hardiman G, Kelsoe JR, Leonard S, Light GA, Nuechterlein KH, Olincy A, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Freedman R, Braff DL. Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. Am J Psychiatry 2011 Sep; 168(9):930-946. PMCID: PMC3751972

Steinberg S, de Jong S; Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I, Melle I, Djurovic S, Strengman E; GROUP, Jürgens G, Glenthøj B, Terenius L, Hougaard DM, Ørntoft T, Wiuf C, Didriksen M, Hollegaard MV, Nordentoft M, van Winkel R, Kenis G, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Sperling S, Rossner M, Ribolsi M, Magni V, Siracusano A, Christiansen C, Kiemeney LA, Veldink J, van den Berg L, Ingason A, Muglia P, Murray R, Nöthen MM, Sigurdsson E, Petursson H, Thorsteinsdottir U, Kong A, Rubino IA, De Hert M, Réthelyi JM, Bitter I, Jönsson EG, Golimbet V, Carracedo A, Ehrenreich H, Craddock N, Owen MJ, O'Donovan MC; Wellcome Trust Case Control Consortium 2, Ruggeri M, Tosato S, Peltonen L, Ophoff RA, Collier DA, St Clair D, Rietschel M, Cichon S, Stefansson H, Rujescu D, Stefansson K. Common variants at VRK2 and TCF4 conferring risk of schizophrenia.  Hum Mol Genet 2011 Oct 15; 20(20):4076-4081. PMCID: PMC3298077

Stone WS, Giuliano AJ, Tsuang MT, Braff DL, Cadenhead KS, Calkins ME, Dobie DJ, Faraone SV, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Mintz J, Nuechterlein KH, Olincy A, Radant AD, Roe AH, Schork NJ, Siever LJ, Silverman JM, Swerdlow NR, Thomas AR, Tsuang DW, Turetsky BI, Seidman LJ. Group and site differences on the California Verbal Learning Test in persons with schizophrenia and their first-degree relatives: findings from the Consortium on the Genetics of Schizophrenia (COGS). Schizophr Res 2011 May; 128(1-3):102-110. PMID: 21288694

Sun J, Wan C, Jia P, Fanous AH, Kendler KS, Riley BP, Zhao Z. Application of systems biology approach identifies and validates GRB2 as a risk gene for schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample. Schizophr Res 2011 Feb; 125(2-3):201-208. PMCID: PMC3031722

Lee S, Wright FA, Zou F. Control of population stratification by correlation-selected principal components. Biometrics 2011; 67(3):967-974. PMCID: PMC3117098

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.  High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.  BMC Med Genet 2011 Nov 25; 12:154.  PMCID: PMC3239290

Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Dell Aquila M, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011 Mar 24; 471(7339):499-503. Erratum in: Nature 2011 Jun 2; 474(7349):114. PMCID: PMC3351382

Olincy A, Braff DL, Adler LE, Cadenhead KS, Calkins ME, Dobie DJ, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Mintz J, Nuechterlein KH, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Wagner BD, Freedman R. Inhibition of the P50 cerebral evoked response to repeated auditory stimuli: results from the Consortium on Genetics of Schizophrenia. Schizophr Res 2010 Jun; 119(1-3):175-182. PMCID: PMC3688282

Radant AD, Dobie DJ, Calkins ME, Olincy A, Braff DL, Cadenhead KS, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Meichle SP, Millard SP, Mintz J, Nuechterlein KH, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang MT, Turetsky BI, Tsuang DW. Antisaccade performance in schizophrenia patients, their first-degree biological relatives, and community comparison subjects: data from the COGS study. Psychophysiology 2010 Sep; 47(5):846-856. PMCID: PMC4176871

Shi J, Badner JA, Willour VL, Potash JB, Gershon ES, Liu C. Further evidence for an association of G72/G30 with schizophrenia in Chinese. Schizophr Res 2009; 107(2-3):324-326. PMID: 18775646

Chao HM, Kao H-T, Porton B. BDNF Val66Met variant and age of onset in schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2008; 147:505-506. PMID: 17894414

Holliday E, Mowry B, Nyholt D. A reanalysis of 409 European-ancestry and African American families with schizophrenia reveals significant linkage to 8p23.3 with evidence of locus heterogeneity. Am J Med Genet B Neuropsychiatr Genet 2008 Oct 5; 147B(7):1080-1088. PMID: 18361422

Horan WP, Braff DL, Nuechterlein KH, Sugar CA, Cadenhead KS, Calkins ME, Dobie DJ, Freedman R, Greenwood TA, Gur RE, Gur RC, Light GA, Mintz J, Olincy A, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Green MF. Verbal working memory impairments in individuals with schizophrenia and their first-degree relatives: findings from the Consortium on the Genetics of Schizophrenia. Schizophr Res 2008 Aug; 103(1-3):218-228. PMCID: PMC2529172

Sanders AR, Duan J, Levinson DF, Shi J, He D, Hou C, Burrell GJ, Rice JP, Nertney DA, Olincy A, Rozic P, Vinogradov S, Buccola NG, Mowry BJ, Freedman R, Amin F, Black DW, Silverman JM, Byerley WF, Crowe RR, Cloninger CR, Martinez M, Gejman PV. No significant association of 14 candidate genes with schizophenia in a large European ancestry sample: implications for psychiatric genetics. Am J Psychiatry 2008 Apr; 165(4):497-506. Erratum in: Am J Psychiatry 2008 Oct; 165(10):1359. PMID: 18198266

Shi J, Gershon ES, Liu C. Genetic associations with schizophrenia: meta-analyses of 12 "top" genes. Schizophr Res 2008; 104(1-3):96-107. PMCID: PMC2562556

Sullivan PF, Lin D, Tzeng JY, van den Oord E, Perkins D, Stroup TS, Wagner M, Lee S, Wright FA, Zou F, Liu W, Downing AM, Lieberman J, Close SL; Collaborators: Gejman PV, Sanders AR, Amin F, Buccola N, Byerley W, Cloninger CR, Crowe R, Black D, Freedman R, Levinson D, Mowry B, Silverman J. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry 2008; 13(6):570-584. PMID: 18347602

Turetsky BI, Greenwood TA, Olincy A, Radant AD, Braff DL, Cadenhead KS, Dobie DJ, Freedman R, Green MF, Gur RE, Gur RC, Light GA, Mintz J, Nuechterlein KH, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Calkins ME. Abnormal auditory N100 amplitude: a heritable endophenotype in first-degree relatives of schizophrenia probands. Biol Psychiatry 2008 Dec 15; 64(12):1051-1019. PMCID: PMC2653714

Calkins ME, Dobie DJ, Cadenhead KS, Olincy A, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Mintz J, Neuchterlein KH, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration. Schizophr Bull 2007 Jan; 33(1):33-48. PMCID: PMC2632302

Condra JA, Neibergs H, Wei W, Brennan MD. Evidence for two schizophrenia susceptibility genes on chromosome 22q13. Psychiatr Genet 2007; 17(5):292-298. PMID: 17728668

Greenwood TA, Braff DL, Light GA, Cadenhead KS, Calkins ME, Dobie DJ, Freedman R, Green MF, Gur RE, Gur RC, Mintz J, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Schork NJ. Initial heritability analyses of endophenotypic measures for schizophenia: the Consortium on the Genetics of Schizophrenia. Arch Gen Psychiatry 2007 Nov; 64(11):1242-1250. PMID: 17984393

Gur RE, Calkins ME, Gur RC, Horan WP, Nuechterlein KH, Seidman LJ, Stone WS. The Consortium on the Genetics of Schizophrenia: neurocognitive endophenotypes. Schizophr Bull 2007 Jan; 33(1):49-68. PMID: 17101692

Liu C, Shi J, Badner JA, Zou H, Qian Y, Gershon ES. No association of trace amine receptor genes with bipolar disorder. Mol Psychiatry 2007; 12(11):979-981. PMID: 17957234

Liu C-M, Liu Y-L, Fann S-J, Chen WJ, Yang W-C, Ouyang W-C, Chen C-Y, Jou Y-S, Hsieh M-H, Liu S-K, Hwang T-J, Faraone SV, Tsuang MT, Hwu H-G. Association evidence of schizophrenia with distal genomic region of NOTCH4 in Taiwanese families. Genes Brain Behav 2007; 6(6):497-502. PMID: 17054719

Liu C-M, Liu Y-L, Fann S-J, Yang W-C, Wu J-Y, Hung S-I, Chen WJ, Chueh C-M, Liu W-M, Liu C-C, Hsieh M-H, Hwang T-J, Faraone SV, Tsuang MT, Hwu H-G. No association evidence between schizophrenia and dystrobrevin-binding protein 1 (DTNBP1) in Taiwanese families. Schizophr Res 2007; 93(1-3):391-398. PMID: 17407805

Liu YL, Fann CSJ, Liu CM, Chang CC, Yang WC, Hung SI, Yu SL, Hwang TJ, Hsieh MH, Liu CC, Tsuang MM, Wu JY, Jou YS, Faraone SV, Tsuang MT, Chen WJ, Hwu H-G. More evidence supports the association of PPP3CC with schizophrenia. Mol Psychiatry 2007; 1-9. PMID: 17339875

Radant AD, Dobie DJ, Calkins ME, Olincy A, Braff DL, Cadenhead KS, Freedman R, Green MF, Greenwood TA, Gur RE, Light GA, Meichle SP, Mintz J, Nuechterlein KH, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang MT, Turetsky BI, Tsuang DW. Successful multi-site measurement of antisaccade performance deficits ins schizophrenia. Schizophr Res 2007 Jan; 89(1-3):320-329. PMID: 17023145

Saviouk V, Moreau MP, Tereschchenko IV, Brzustowicz. Association of synapsin 2 with schizophrenia in families of Northern European ancestry. Schizophr Res 2007; 96:100-111. PMID: 17766091

Shi J, Hattori E, Zou H, Badner JA, Christian SL, Gershon ES, Liu C. No evidence for association between 19 cholinergic genes and bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144(6):715-723. PMID: 17373692

Swerdlow NR, Sprock J, Light GA, Cadenhead K, Calkins MR, Dobie DJ, Freedman R, Green MF, Greenwood TA, Gur RE, Mintz J, Olincy A, Nuechterlein KH, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. Multi-site studies of acoustic startle and prepulse inhibition in humans: initial experience and methodological considerations based on studies by the Consortium on the Genetics of Schizophrenia. Schizophr Res 2007 May; 92(1-3):237-251. PMCID: PMC2039885

Turetsky BI, Calkins ME, Light GA, Olincy A, Radant AD, Swerdlow NR. Neurophysiological endophenotypes of schizophrenia: the viability of selected candidate measures. Schizophr Bull 2007 Jan; 33(1):69-94. PMCID: PMC2632291

Faraone SV, Hwu H-G, Liu C-M, Chen WJ, Tsuang M-M, Liu S-K, Shieh M-H, Hwang T-J, Ou-Yang W-C, Chen C-Y, Chen C-C, Lin J-J, Chou FH-C, Chueh C-M, Liu W-M, Hall M-H, Su J, Van Eerdewegh P, Tsuang MT. Genome scan of Han Chinese schizophrenia families from Taiwan: confirmation of linkage to 10q22.3. Am J Psychiatry 2006; 163:1760-1766. Download PDF

Freedman R, Leonard S, Waldo M, Gault J, Olincy A, Adler LE. Characterization of allelic variants at chromosome 15q14 in schizophrenia. Genes Brain Behav 2006; 5(Suppl 1):14-22. Download PDF

Leonard S, Freedman R. Genetics of chromosome 15q13-q14 in schizophrenia. Biol Psychiatry 2006; 60:115-122. Download PDF

Liu Y-L, Fann CS-J, Liu C-M, Wu J-Y, Hung S-I, Chan H-Y, Chen J-J, Pan C-C, Liu S-K, Hsieh MH, Hwang T-J, OuYang W-C, Chen C-Y, Lin J-J, Chou FH-C, Chueh C-M, Liu W-M, Tsuang M-M, Faraone SV, Tsuang MT, Chen WJ, Hwu H-G. Absence of significant associations between four AKT1 SNP markers and schizophrenia in the Taiwanese population. Psychiatr Genet 2006; 16:39-41. Download PDF

Liu Y-L, Fann CS-J, Liu C-M, Wu J-Y, Hung S-I, Chan H-Y, Chen J-J, Lin C-Y, Liu S-K, Hsieh MH, Hwang T-J, OuYang W-C, Chen C-Y, Lin J-J, Chou FH-C, Chueh C-M, Liu W-M, Tsuang M-M, Faraone SV, Tsuang MT, Chen WJ, Hwu H-G. Evaluation of RGS4 as a candidate gene for schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2006; 141B:418-420. Download PDF

Liu Y-L, Fann CS-J, Liu C-M, Chang C-C, Wu J-Y, Hung S-I, Liu S-K, Hsieh MH, Hwang T-J, Chan H-Y, Chen J-J, Faraone SV, Tsuang MT, Chen WJ, Hwu H-G. No association of G72 and D-amino acid oxidase genes with schizophrenia. Schizophr Res 2006; 87(1-3): 15-20.

Mansour HA, Wood J, Logue T, Chowdari KV, Dayal M, Kupfer DJ, Monk TH, Devlin B, Nimgaonkar VL.  Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia.  Genes Brain Behavr 2006; 5(2):150-157. Download PDF

Suarez BK, Duan J, Sanders AR, Hinrichs AL, Jin CH, Hou C, Buccola NG, Hale N, Weilbaecher AN, Nertney DA, Olincy A, Green S, Schaffer AW, Smith CJ, Hannah DE, Rice JP, Cox NJ, Martinez M, Mowry BJ, Amin F, Silverman JM, Black DW, Byerley WF, Crowe RR, Freedman R, Cloninger CR, Levinson DF, Gejman PV. Genomewide Linkage Scan of 409 European-Ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample. Am J Hum Genet 2006; 78(2):315-333. Download PDF

Tosic J, Ott J, Barral S, Bovet P, Deppen P, Gheorghita F, Matthey ML, Parnas J, Preisig M, Saraga M, Solida A, Timm S, Wang AG, Werge T, Cuénod M, Quang Do K. Schizophrenia and oxidative stress: glutamate cysteine ligase modifier as a susceptibility gene. Am J Hum Genet 2006; 79: 586-592. Download PDF

Brennan MD, Condra J. Transmission disequilibrium suggests a role for the sulfotransferase-4A1 gene in schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2005; 139B:69-72. Download PDF

Corradi JP,  Ravyn V, Robbins AK, Hagan KW, Bostwick R, Buono RJ, Berrettini WH, Furlong ST. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2, a region linked to schizophrenia and bipolar disorder displaying parent-of-origin effects. Mol Psychiatry 2005; 10(11):1017-1025. Download PDF

Holliday E, Mowry B, Chant D, Nyholt D. The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data. Hum Genet 2005; 117:160-167. PMID: 15843988

Hwu H-G, Faraone SV, Liu C-M, Chen WJ, Liu S-K, Shieh M-H, Hwang T-J, Tsuang M-M, OuYang W-C, Chen C-Y, Chen C-C, Lin J-J, Chou FH-C, Chueh C-M, Liu W-M, Hall M-H, Tsuang MT. Taiwan schizophrenia linkage study: the field study. Am J Med Genet B Neuropsychiatr Genet 2005; 134B:30-36. Download PDF

Mulle JG, Chowdari KV, Nimgaonkar VL. No evidence for association to the G72/G30 locus in an independent sample of schizophrenia families. Mol Psychiatry 2005; 10(5):431-433. Download PDF

Prasad KM, Chowdari KV, Nimgaonkar VL, Talkowski ME, Lewis DA, Keshavan MS. Genetic polymorphisms of the RGS4 and dorsolateral prefrontal cortex morphometry among first episode schizophrenia patients.  Mol Psychiatry 2005; 10:213-219. Download PDF

Takahashi S, Faraone SV, Lasky-Su J, Tsuang MT. Genome-wide scan of homogeneous subtypes of NIMH genetics initiative schizophrenia families. Psychiatry Res 2005 Feb 28; 133(2-3):111-22. Download PDF

Faraone SV, Su J, Taylor L, Wilcox M, Van Eerdewegh P, Tsuang MT.  A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families. Hum Hered 2004; 57(2):59-68. Download PDF

Iwamoto K, Bundo M, Washizuka S, Kakiuchi C, Kato T. Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia. J Hum Genet 2004; 49(5):227-31.  Download PDF

Mowry BJ, Holmans PA, Pulver AE, Gejman PV, Riley B, Williams NM, Laurent C, Schwab SG, Wildenauer DB, Bauche S, Owen MJ, Wormley B, Sanders AR, Nestadt G, Liang KY, Duan J, Ribble R, Norton N, Soubigou S, Maier W, Ewen-White KR, deMarchi N, Carpenter B, Walsh D, Williams H, Jay M, Albus M, Nertney DA, Papadimitriou G, O'Neill A,O'Donovan MC, Deleuze J-F, Lerer FB, Dikeos D, Kendler KS, Mallet J, Silverman JM, Crowe RR, Levinson DF. Multicenter linkage study of schizophrenia loci on chromosome 22q. Mol Psychiatry 2004; 9:784-795. Download PDF

Stone WS, Faraone SV, Su J, Tarbox SI, Van Eerdewegh P, Tsuang MT. Evidence for linkage between regulatory enzymes in glycolysis and schizophrenia in a multiplex sample. Am J Med Genet B Neuropsychiatr Genet 2004 May 15; 127(1):5-10. Download PDF

Gault J, Hopkins J, Berger R, Drebing C, Logel J, Walton C, Short M, Vianzon R, Olincy A, Ross RG, Adler LE, Freedman R, Leonard S. Comparison of polymorphisms in the α7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects. Am J Med Genet B Neuropsychiatr Genet 2003; 123B:39-49. Download PDF

Leonard S, Freedman R. Recombination in a schizophrenic proband fails to exclude CHRNA7 at chromosome 15q14. Mol Psychiatry 2003; 8:145-146. Download PDF

Takahashi S, Cui YH, Kojima T, Han YH, Zhou RL, Kamioka M, Yu SY, Matsuura M, Matsushima E, Wilcox M, Arinami T, Shen YC, Faraone SV, Tsuang MT. Family-based association study of markers on chromosome 22 in schizophrenia using African-American, European-American, and Chinese families. Am J Med Genet B Neuropsychiatr Genet 2003 Jul 1; 120(1):11-7. Download PDF

Chao HM, Richardson MA. Aromatic amino acid hydroxylase genes and schizophrenia. Am J Med Genet 2002; 114:626-630.  Download PDF

Chowdari KV, Mirnics K, Semwal P, Wood J, Lawrence E, Bhatia T, Deshpande SN, Thelma B K, Ferrell RE, Middleton FA, Devlin B, Levitt P , Lewis DA , Nimgaonkar VL. Association and linkage analyses of RGS4 polymorphisms in schizophrenia. Hum Mol Genet 2002; 11(12):1373-1380. Download PDF

DeLisi LE, Sherrington R, Shaw S, Nanthakumar B, Shields G, Smith AB, Wellman N, Larach NW, Loftus J, Razi K, Stewart J, Vita A, De Hurt M, Crow TJ, Sherrington R.  A genome-wide scan of 382 affected sibling-pairs with schizophrenia suggests linkage to chromosomes 2cen and 10p.  Am J Psychiatry 2002; 159:803-812.

Leonard S, Gault J, Hopkins J, Logel J, Vianzon R, Short M, Drebing C, Berger R, Venn D, Sirota P, Zerbe G, Olincy A, Ross RG, Adler LE, Freedman R. Association of promoter variants in the α7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch Gen Psychiatry 2002; 59:1085-1096. Download PDF

Levinson DF, Holmans PA, Laurent C, Riley B, Pulver AE, Gejman PV, Schwab SG, Williams NM, Owen MJ, Wildenauer DB, Sanders AR, Nestadt G, Mowry BJ, Wormley B, Bauche S, Soubigou S, Ribble R, Nertney DA, Liang KY, Martinolich L, Maier W, Norton N, Williams H, Albus M, Carpenter EB, deMarchi N, Ewen-White KR, Walsh D, Jay M, Deleuze J-F, O'Neill FA, Papadimitriou G, Weilbaecher A, Lerer B, O'Donovan MC, Dikeos D, Silverman JM, Kendler KS, Mallet J, Crowe RR, Walters M. No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science 2002; 296:739-741. Download PDF

Wilcox MA, Faraone SV, Su J, Van Eerdewegh P, Tsuang MT. Genome scan of three quantitative traits in schizophrenia pedigrees. Biol Psychiatry 2002 Nov 1; 52(9):847-54. Download PDF

Freedman R, Leonard S, Gault JM, Hopkins J, Cloninger CR, Kaufmann CA, Tsuang MT, Farone SV, Malaspina D, Svrakic DM, Sanders A, Gejman P. Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7). Am J Med Genet 2001 Jan 8; 105(1):20-2. Download PDF

Freedman R, Leonard S, Olincy A, Kaufmann CA, Malaspina D, Cloninger CR, Svrakic D, Faraone SV, Tsuang MT. Evidence for the multigenic inheritance of schizophrenia. Am J Med Genet 2001 Dec 8; 105(8):794-800.  Download PDF

Levinson DF, Holmans P, Straub RE, Owen MJ, Wildenauer DB, Gejman PV, Pulver AE, Laurent C, Kendler KS, Walsh D, Norton N, Williams NM, Schwab SG, Lerer B, Mowry BJ, Sanders AR, Antonarakis SE, Blouin J-L, DeLeuze J-F, Mallet J. Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III. Am J Hum Genet 2000; 67:652-663. Download PDF

Faraone SV, Meyer J, Matise T, Svrakic D, Pepple J, Malaspina D, Suarez B, Hampe C, Chan G, Aelony A, Friedman JH, Kaufmann C, Cloninger CR, Tsuang MT. Suggestive linkage of chromosome 10p to schizophrenia is not due to transmission ratio distortion. Am J Med Genet 1999 Dec 15; 88(6):607-8. Download PDF

Martinez M, Goldin LR, Cao Q, Zhang J, Sanders AR, Nancarrow DJ, Taylor JM, Levinson DF, Kirby A, Crowe RR, Andreasen NC, Black DW, Silverman JM, Lennon DP, Nertney DA, Brown DM, Mowry BJ, Gershon ES, Gejman PV. Follow-up study on a susceptibility locus for schizophrenia on chromosome 6q. Am J Med Genet B Neuropsychiatr Genet 1999; 88:337-343. Download PDF

Cloninger CR, Kaufmann CA, Faraone SV, Malaspina D, Syrakic DM, Harkavy-Friedman J, Suarez BK, Matise TC, Shore D, Lee H, Hampe CL, Wynne D, Drain C, Markel PD, Zambuto CT, Schmitt K, Tsuang MT. Genome-wide search for schizophrenia susceptibility loci:The NIMH Genetics Initiative and Millennium Consortium. Am J Med Genet B Neuropsychiatr Genet 1998; 81:275-281. Download PDF

Kaufmann CA, Suarez B, Malaspina D, Pepple J, Svrakic D, Markel PD, Meyer J, Zambuto CT, Schmitt K, Matise TC, Harkavy-Friedman JM, Hampe C, Lee H, Shore D, Wynne D, Faraone SV, Tsuang MT, Cloninger R, NIMH Genetics Initiative Millennium Schizophrenia Consortium. Linkage analysis of African-American pedigrees. Am J Med Genet B Neuropsychiatr Genet 1998; 81:282-289. Download PDF

Leonard S, Gault J, Moore T, Hopkins J, Robinson M, Oliney A, Adler LE, Cloninger CR, Kaufmann CA, Tsuang MT, Faraone SV, Malaspina D, Svrakic DM, Freedman R. Further investigation of a chromosome 15 locus in schizophrenia: Analysis of affected sibpairs from the NIMH Genetics Initiative. Am J Med Genet B Neuropsychiatr Genet 1998; 81:308-312. Download PDF

Faraone SV, Matise T, Svrakic D, Pepple J, Malaspina D, Suarez B, Hampe C, Zambuto CT, Schmitt K, Meyer J, Markel P, Lee H, Harkavy-Friedman J, Kaufmann C, Cloninger CR, Tsuang MT. Genome scan of European-American schizophrenia pedigrees: Results of the NIMH Genetics Initiative and Millennium Consortium. Am J Med Genet B Neuropsychiatr Genet 1998; 81:290-295. Download PDF

Shaw S, Sherrington R, Cardon L, Smith A, Shields G, Loftus J, Vita A, Crow TJ, DeLisi LE.  A genome-wide screen for linkage to schizophrenia. Am J Med Genet B Neuropsychiatr Genet 1998; 81:364-376.

Cao Q, Martinez M, Zhang J, Sanders A, Badner J, Cravchik A, Markey C, Beshah E, Guroff JJ, Maxwell ME, Kazuba D, Whiten R, Goldin LR, Gershon ES, Gejman PV. Suggestive evidence for a schizophrenia susceptibility locus on chromosome 6q and a confirmation in an independent series of pedigrees. Genomics 1997; 43(1):1-8. Download PDF

Johnson JE, Cleary J, Ahsan H, Harkavy Friedman J, Malaspina D, Cloninger CR, Faraone SV, Tsuang MT, Kaufmann CA. Anticipation in schizophrenia: biology or bias? Am J Med Genet B Neuropsychiatr Genet 1997; 74:275-280. Download PDF

Blehar MC, Faraone SV, Zeller PJ, Nurnberger JI, Tsuang MT, Kirch DG, Shore D, Gershefski JMA, Reich T, Cloninger CR, Rau NL, DePaulo JR, Kaufmann CA, Harkavy-Friedman J, Malaspina D, Weise RE. Differentiation of schizoaffective bipolar disorder from bipolar disorder and schizophrenia. Depression 1996; 3:309-315.

 

Stem Cells

Mariani J, Coppola G, Zhang P, Abyzov A, Provini L, Tomasini L, Amenduni M, Szekely A, Palejev D, Wilson M, Gerstein M, Grigorenko EL, Chawarska K, Pelphrey KA, Howe JR, Vaccarino FM. FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders. Cell 2015 Jul 16; 162(2):375-390. PMID: 26186191

 

Tourette Syndrome

Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hastrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/ hyperactivity disorder. J Psychiatr Res 2016 Nov; 82:126-135. PMCID: PMC5026935

Sun N, Tischfield JA, King RA, Heiman GA. Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. Front Psychiatry 2016 Feb 9; 7:11. PMCID: PMC4746269

de Leeuw C, Goudriaan A, Smit AB, Yu D, Mathews CA, Scharf JM; Tourette Syndrome Association International Consortium for Genetics, Verheijen MH, Posthuma D. Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis. Eur J Hum Genet 2015 Nov; 23(11):1519-1522. PMCID: PMC4613465

Dietrich A, Fernandez TV, King RA,State MW, Tischfield JA, Hoekstra PJ, Heiman GA; TIC Genetics Collaborative Group. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. Eur Child Adolesc Psychiatry 2015 Feb; 24(2):141-151. PMCID: PMC4209328

Huertas-Fernández I, Gómez-Garre P, Madruga-Garrido M, Bernal-Bernal I, Bonilla-Toribio M, Martín-Rodríguez JF, Cáceres-Redondo MT, Vargas-González L, Carrilo F, Pascual A, Tischfield JA, King RA, Heiman GA, Mir P. GDNF gene is associated with tourette syndrome in a family study. Mov Disord 2015 Jul; 30(8):1115-1120. PMCID: PMC5036394

Moya PR, Dodman NH, Timpano KR, Rubenstein LM, Rana Z, Fried RL, Reichardt LF, Heiman GA, Tischfield JA, King RA, Galdzicka M, Ginns EI, Wendland JR. Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes. Eur J Hum Genet 2013 Aug; 21(8):850-854. PMCID: PMC3722668

Moya PR, Wendland JR, Rubenstein LM, Timpana KR, Heiman GA, Tischfield JA, King RA, Andrews AM, Ramamoorthy S, McMahon FJ, Murphy DL. Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder. Mov Disord 2013 Aug; 28(9):1263-1270. PMCID: PMC3766488

Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry 2012 Mar 1; 71(5):392-402. PMCID: PMC3282144

Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Günel M, State MW. L-histidine decarboxylase and Tourette's syndrome. N Engl J Med 2010 May 20; 362(20):1901-1908. PMCID: PMC2894694

Heiman GA, King RA, Tischfield JA. New Jersey Center for Tourette Syndrome sharing repository: methods and sample description. BMD Med Genomics 2008 Nov 26; 1:58. PMCID: PMC2605751

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