MOLECULAR NEUROPSYCHIATRY AND DEVELOPMENT LAB

 
 
 
Khan MA, Rafiq MA, Noor A, Hussain S, Rupp V, Vincent AK, Malli R, Ali G, Flores J, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. (2012) Mutation in NSUN2, which encodes an RNA Methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet 90:856-863

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Saunders CJ, Minassian BA and Vincent JB. (2012) Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. Am J Med Genet (Neuropsychiatr Genet) 159B:210-216 

Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF.  (2011) Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clin Genet [epub ahead of print]
 
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen K, Vincent JB, Ropers HH, Ansar M, Najmabadi H. (2011) Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal recessive intellectual disability.  Am J Hum Genet 89:176-182.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Heron E, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Casallo G, Chung BHY, Cochrane L, Correia C, 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, 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, Liu X-Q, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussi J, Renshaw K, Roberts W, Roeder K, Roge B, Rutter ML, Salt J, Segurado R, Sequeira AF , Senman L, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thompson A, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wassink TH, Wing K, Wittemeyer K, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum3 JD, Cantor RM, Cook EH, Coon H, Cuccaro M, Geschwind DH, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente AM, & Ennis S. (2012) A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 131:565-579.
 
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, Wienker 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 J, 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. (2011) Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43:977-983
 
Kaminsky Z, Tochigi M, Jia P, Mill J, Kwan A, Ioshikes I, Vincent JB, Kennedy JL, Strauss J, Pai S, Wang S-C, Petronis A. A multi-tissue analysis identifies HCG9 methylation differences in bipolar disorder. Mol Psychiatry [epub ahead of print]
 
Vieland VJ, Hallmayer J, Huang Y, Pagnamenta A, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P, and the Autism Genome Project (AGP). (2011) Novel method for combined linkage and genomewide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. J Neurodev Disord 3:113-123.
 
Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E; The Autism Genome Project, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; The AGP Members, Bailey AJ, Fernandez BA, Szatmari P, Scherer SW, Patterson A, Marshall CR, Pinto D, Vincent JB, Fombonne E, Betancur C, Delorme R, Leboyer M, Bourgeron T, Mantoulan C, Roge B, Tauber M, Freitag CM, Poustka F, Duketis E, Klauck SM, Poustka A, Papanikolaou K, Tsiantis J, Gallagher L, Gill M, Anney R, Bolshakova N, Brennan S, Hughes G, McGrath J, Merikangas A, Ennis S, Green A, Casey JP, Conroy JM, Regan R, Shah N, Maestrini E, Bacchelli E, Minopoli F, Stoppioni V, Battaglia A, Igliozzi R, Parrini B, Tancredi R, Oliveira G, Almeida J, Duque F, Vicente A, Correia C, Magalhaes TR, Gillberg C, Nygren G, Jonge MD, Van Engeland H, Vorstman JA, Wittemeyer K, Baird G, Bolton PF, Rutter ML, Green J, Lamb JA, Pickles A, Parr JR, Couteur AL, Berney T, McConachie H, Wallace S, Coutanche M, Foley S, White K, Monaco AP, Holt R, Farrar P, Pagnamenta AT, Mirza GK, Ragoussis J, Sousa I, Sykes N, Wing K, Hallmayer J, Cantor RM, Nelson SF, Geschwind DH, Abrahams BS, Volkmar F, Pericak-Vance MA, Cuccaro ML, Gilbert J, Cook EH, Guter SJ, Jacob S, Nurnberger Jr JI, McDougle CJ, Posey DJ, Lord C, Corsello C, Hus V, Buxbaum JD, Kolevzon A, Soorya L, Parkhomenko E, Leventhal BL, Dawson G, Vieland VJ, Hakonarson H, Glessner JT, Kim C, Wang K, Schellenberg GD, Devlin B, Klei L, Minshew N, Sutcliffe JS, Haines JL, Lund SC, Thomson S, Yaspan BL, Coon H, Miller J, McMahon WM, Munson J, Estes A, Wijsman EM. (2011) Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet 19:1082-1089
  
Sang L, Miller JJ, Corbit KC, Giles R, Brauer M, Otto E, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker E,  Sfakianos M, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reuther HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi ARR, Sheffield VC, Slusarski DC, Vincent JB, Doherty D, Hildebrandt F, Reiter  J, Jackson  PK. (2011) Mapping of an NPHP-JBTS-MKS Interaction Network Guides Discovery of New Ciliopathy Disease Genes Ataxin10 and Tectonic2. Cell 145:513-528 

Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M. (2011) A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Medical Genetics 12:56.
 
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel A, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davis C, Roberts W, Vincent J, Weksberg R, Scherer SW. (2011). Hemizygous Deletions on Chromosome 1p21.3 Involving the DPYD Gene in Individuals with Autism Spectrum Disorder. Clinical Genetics 80:435-443.
 
Cohen-Woods S, Craddock N, Craig I, Elkin A, Farmer A, Gaysina D, Gray J, Gunasinghe C, Kennedy J, King N, Korszun A, Knight J, Owen M, Parikh SV, Strauss J, Sterne A, Vincent J, McGuffin P. (2010) The bipolar association case control (BACC) study and meta-analysis: No association with the 5,10-methylenetetrahydrofolate reductase gene and bipolar disorder. Am J Med Genet (Neuropsychiatr Genet) 153B(7):1298-304.
 
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, Bölte 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. (2010) A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19:4072-4082 

Novak G, Zai CC, Mirkhani M, Shaikh S, Vincent JB, Meltzer HY, Lieberman JA, Levesque D, Kennedy JL, Le Foll B. (2010) Association of the NR4A3 gene with smoking behavior in schizophrenia and in bipolar disorder. Genes, Brain & Behavior 9:910-917

 

Gaysina D, Cohen-Woods S, Chow PC, Martucci L, Schosser A, Ball HA, Tozzi F, Perry J, Muglia P, Knnedy JL, King N, Vincent JB, Parikh SV, Strauss J, Craig IW, McGuffin P, Farmer A. Association between DAOA and DAO genes and bipolar disorder: the results of a Bipolar Case Control Study (BACCS) Bipolar Disorder 12:579-581 

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, Bo¨lte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, ChungBHY, 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, Igliozzi1 R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal B, Lionel AC, Liu X-Q, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall1 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 A, 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, PatersonAD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C, for the AGP. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368-372. 

Tozzi F, Manchia M, Galwey NW, Severino G, Del Zompo M, McGuffin P, Kennedy JL, Reid I, Day R, Vincent J, Farmer A, Muglia P. (2011) Admixture analysis of Bipolar Disorder age at onset. Psychiatry Research 185:27-32
 
Manchia M, Zai CC, Squassina A, Vincent JB, De Luca V, Kennedy JL. (2010) Mixture regression analysis on age at onset in a sample of Canadian Bipolar Affective patients: investigation of the role of serotonergic genes. Eur J Hum Genet 20:663-670.

 

Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJF, Barroso I, Khaw K-T, Grundy S, Barter P, Mahley R, Kesaniemi A, McPherson R, Vincent JB, Strauss J, Kennedy JL, Farmer A, McGuffin P, Day R, Matthews K, Bakke P, Gulsvik A, Lucae S, Ising M, Brueckl T, Horstmann S, Wichmann H-E, Rawal R, Dahmen N, Lamina C, Polasek O, Zgaga L, Huffman J, Campbell S, Kooner J, Chambers JC, Burnett MS, Devaney JM, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein S, Wilson JF, Wild SH, Campbell H, Vitart V, Reilly MP, Li M, Qu L, Wilensky R, Matthai W, Hakonarson HH, Rader DJ, Franke A, Wittig M, Schäfer A, Uda M, Terracciano A, Xiao X, Busonero F, Scheet P, Schlessinger D, Abecasis GR, Grabe HJ, Teumer A, Völzke H, Petersmann A, John U, Rudan I, Hayward C, Wright AF, Kolcic I, Wright BJ, Thompson JR, Balmforth AJ, Hall AS, Samani NJ, Anderson CA, Ahmad T, Mathew CG, Parkes M, Satsangi J, Caulfield M, Munroe PB, Farrall M, Dominiczak A, Worthington J, Thomson W, Eyre S, Barton A, The Wellcome Trust Case Control Consortium, Mooser V, Francks C, Marchini J. (2010) Genome-wide association meta-analysis of smoking in 41,150 subjects. Nature Genetics 42:436-440.
 
Kaufman L, Ayub M, Vincent JB. (2010) The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord. 2(4):182-209. Epub 2010 Jul 29.

Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH Jr, Dawson G, Schellenberg GD, Battaglia A, Maestrini E; Autism Genome Project Consortium, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. (2010) Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med. 2(49):49ra68.

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB and Scherer SW. (2010) Mapping of 3 Novel Loci for Non-Syndromic Autosomal Recessive Mental Retardation (NS-ARMR) in Consanguineous Families from Pakistan. Clin Genet 78:478-483

 

McMahon FJ, Akula N, Schulze TG, Muglia P, Tozzi F, Detera-Wadleigh SD, Steele CJM, Breuer R, Strohmaier J, Wendland JR, Mattheisen M, Mühleisen TW, Maier W, Nöthen MM, Cichon S, Farmer A, Vincent JB, Holsboer F, Preisig M, Rietschel M, and the Bipolar Disorder Genetics (BiGs) Consortium. (2010) Meta-analysis of genome-wide association data detects a risk locus for major mood disorders on chromosome 3p21.1. Nature Genet 42:128-131.

Francks C, Muglia P, Tozzi F, Farmer A, Vincent JB, Rujescu D, St Clair D. (2010) Population-based linkage analysis of schizophrenia and bipolar case-control cohorts identifies a potential susceptibility locus on 19q13. Mol Psychiatry 15: 319-325.

Mir A, Kaufman L, Noor A, Jamil T, Azam M, Rafiq MA, Weksberg R, Nasr T, Naeem F, Kahrizi K, Ishak GE, Doherty D, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. (2009) Identification of TRAPPC9, which encodes the NIK and IKK-β binding protein (NIBP), in Non-Syndromic Autosomal Recessive Mental Retardation. Am J Hum Genet 85:909-915.

Saunders C, Minassian BE, Chow EW, Zhao W, Vincent JB. (2009) Novel Exon 1 Mutations in MECP2 Associated with Classical Rett Syndrome. Am J Med Genet A 149:1019-1023.

Noor A, Gianakopoulos PJ, Fernandez B, Marshall CR, Szatmari P, Roberts W, Scherer SW, Vincent JB. (2009) CNV Analysis and Sequencing of the X-linked Mental Retardation Gene TSPAN7/TM4SF2 in Patients with Autism Spectrum Disorder (ASD). Psychiatric Genetics 19:154-155.

Scott LJ, Muglia P, Upmanyu R, Guan W, Flickinger M, Kong X, Tozzi F, Li J, Burmeister M, Absher D, Thompson RC, Francks C, Meng F, Antoniades A, Southwick AM, Schatzberg A, Bunney W, Barchas J, Jones E, Day R, Matthews K, McGuffin P, Kennedy JL, Middleton L, Roses A, Watson SJ, Vincent J, Myers RM, Farmer A, Akil H, Burns D, Boehnke M. (2009) Genome-wide association and meta-analysis of bipolar disorder in European ancestry samples. Procl Natl Acad Sci USA 106:7501-7506.

Noor A, Windpassinger C, Vitcu I, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB. (2009) Oligodontia is caused by mutation in the gene encoding Latent TGF-β Binding Protein, LTBP3. Am J Hum Genet 84: 519-523.

Vincent JB, Noor A, Schwarzbraun T, Alfred SE, Artner V, Windpassinger C, Scherer SW, Wagner K, Kroisel PM, Petek E. (2009) Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. Am J Med Genet (Part B) 150:817-826

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Doherty D, Vincent JB, Ayub M. (2008) A Gene On 4p15.33, CC2D2A, Encoding A Coiled-Coil And C2 Domain Protein, Causes Autosomal Recessive Mental Retardation With Retinitis Pigmentosa. Addendum. Am J Hum Genet 83:656

Gorden NT, Arts HH, Parisi MA, van Beersum SEC, Hikida A, Letteboer SJF, Eckert M, Coene KLM, Knutzen D, Mans DA, Alswaid AF, Özyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NVAM, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated, basal body protein CEP290. Am J Hum Genet 83:559-571.

Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Carew E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW. (2008) A translocation t(6;7)(p11-12;q22) Associated with Autism and Mental Retardation: Localization, and Identification Of Candidate Genes At The Breakpoints. Psychiatr Genet 18:101-109

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. (2008) A Gene On 4p15.33, CC2D2A, Encoding A Coiled-Coil And C2 Domain Protein, Causes Autosomal Recessive Mental Retardation With Retinitis Pigmentosa. Am J Hum Genet 82:1011-1018.

Windpassinger C, Schoser B, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher W, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. (2008) An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, termed XMPMA, is Caused by Mutation in FHL1. Am J Hum Genet 82:88-99

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicholson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. (2008) Structural Variation of Chromosomes in Autism Spectrum Disorder. Am J Hum Genet 82: 477-488.

Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Vincent JB, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. (2007) Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81:1289-1297.

Voineskos S, De Luca V, Mensah A, Vincent JB, Potapova N, Kennedy JL. (2007) Association of _42 Nicotinic Receptor and Heavy Smoking in Schizophrenia. J Psychiatr Neurosci 32:412-416.

Mensah AK, De Luca V, Stachowiak B, Noor A, Windpassinger C, Lam STS, Kennedy JL, Scherer SW, Lo IFM, Vincent JB. (2007) Molecular Analysis of a Chromosome 4 Inversion Segregating in a Large Schizophrenia Kindred from Hong Kong. Schizophrenia Research 95:228-235

Autism Genome Project (AGP) Consortium. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328.

Harvey C, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts WS, Srivistava AK, Minassian BA, Vincent JB. (2007) Sequence Variants Within Exon 1 of MECP2 Occur In Females With Mental Retardation. Am J Med Genet Part B (Neuropsychiatric Genet) 144:355-360.

Petek E, Green N, Schwarzbraun T, Patel M, Luo W, Nakabayashi K, Choufani S, Fang H, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HMD, Kroisel PM, Wagner K, Scherer SW, Vincent JB. (2007) Molecular studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genom 277:77-81.

Feuk, L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Summers A, Senman L, Roberts W, Zeesman S, Kerem B, Rivlin J, Nowaczyk, MJ, Vincent JB, Szatmari P, Hartung D, Wong V, Osborne LR, Oram Cardy J, Kere J, Scherer SW, Hannula-Jouppi K. (2006) Absence of a paternally-inherited FOXP2 gene in individuals with Developmental Verbal Dyspraxia. Am J Hum Genet 79:965-972.

Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. (2006) Genomic analysis and re-evaluation of five 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). Eur J Med Genet 49:338-345.

Vincent JB*, Horike S*, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW (2006) An inversion INV (4) (p12-p15.3) associated with autism implicates the 4p GABA receptor gene cluster. J Med Genet 43:429-434. (IF 4.33) *These authors contributed equally to this work.

Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Lacasse H, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA. (2005) Clinical stringency greatly improves mutation detection in Rett syndrome. Can J Neurol Sci 32:321-326.

Vincent JB, Melmer G, Bolton PF, Hodgkinson S, Holmes D, Curtis D, Gurling HMD. (2005) Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region. Psychiatr Genet 15:83-90

De Luca V, Vincent JB, Muller DJ, Hwang R, Shinkai T, Volavka J, Czobor P, Sheitman BB, Lindenmayer JP, Citrome L, McEvoy JP, Lieberman JA, Kennedy JL (2005) Identification of a naturally occurring 21bp deletion in alpha2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment. Pharmacol Res 51:381-384

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg M, Kroisel PM, Wagner K, Petek E. (2004) Cloning of TULIP1, a novel CpG-associated, brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homologue. Genomics 84: 577-586.

Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HMD, Scherer SW. Mutations Screening of X-Chromosomal Neuroligin Genes: No Mutations In 196 Autism Probands. Am J Med Genet (Neuropsychiatric Genetics) 129B:82-84.

Ikeda Y, Dalton J, Moseley M, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LPW. (2004) Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 ataxia families. Am J Hum Genet 75: 3-16.

Kroisel PM, Vincent JB, Artner V, Spiel G, Valtiner E, Windpassinger C, Scherer SW, Wagner K, Petek E. (2004) De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. Am J Med Genet 129A:98-100.

De Luca V, Muglia P, Vincent JB, Jain U, Lanktree M, Kennedy JL. Adrenergic alpha 2c receptor genomic organization: Association Study in Adult ADHD. Am J Med Genet (Neuropsychiatric Genetics) 127:65-67.

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB*, Minassian BA*. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 36:339-341

Haddad R, Vincent JB, Gryfe R, Kim H, Wen J, Redston M, Scherer SW, Gallinger S.(2004) Chromosome 7q31 allelic imbalance and somatic mutation of RAY1/ST7 gene in colorectal cancer. Cancer Lett 203:87-90

Vincent JB, Thevarkunnel S, Kolosovari D, Paterson AD, Roberts W, Scherer SW. (2004) Association and transmission analysis of the FMR1 IVS10+14C-T variant in autism. Am J Med Genet (Part B) 125: 54-56.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. (2003) Human chromosome 7: DNA sequence and biology. Science 300:767-772

Cisternas F, Vincent JB, Scherer SW and Ray PN. (2003) Cloning and Characterization of Human CADPS and CADPS2: new members of the Ca2+-dependent Activator for Secretion Protein Family. Genomics 81:279-291.

Fortune MT, Kennedy JL, Vincent JB. (2003) Anticipation and CAG•CTG repeat expansion in schizophrenia and bipolar affective disorder. Curr Psychiatr Reports 5:145-154

Hellman A, Zlotorynski E, Scherer SW, Vincent JB, Cheung J, Smith DI, Trakhtenbrot L, Kerem B. (2002) A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 1:80-97.

Vincent JB, Petek E, Thevarkunnel S, Kolosovari D, Cheung J, Patel M, Scherer SW. (2002) The RAY1-ST7 tumour supressor locus on chromosome 7q31.3 represents a complex multi-transcript system. Genomics 80:245-256.

Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. (2001) Disruption of a novel gene (IMMPL2) by a breakpoint in 7q31 associated with Tourette’s Syndrome. Am J Hum Genet 68: 848-858.

Cheung J, Petek E, Nakabyashi K, Tsui L-C, Vincent JB, Scherer SW (2001) Identification of the human cortactin-binding protein (CORTBP2) from the autism candidate region at 7q31. Genomics 78:7-11.

Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HMD, Potkin SG, Pato CN, Azevedo MH, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL. (2000) An unstable trinucleotide repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet 66: 719-729 (cited OMIM# 603680).

Vincent JB, Paterson AD, Strong E, Petronis A, Kennedy JL. (2000) The unstable trinucleotide repeat story of major psychosis. Am J Med Genet (Seminars in Medical Genetics) 97: 77-97.

McInnis MG, Swift-Scanlan T, Mahoney AT, Vincent J, Verheyen GR, Lan TH, Oruc L, Reiss O, Van Broeckhoven C, Chen H, Kennedy JL, MacKinnon DF, Margolis RL, Simpson SG, McMahon FJ, Gershon E, Nurnberger J, DePaulo JR, Ross CA. (2000) Allelic Distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia and ataxia. Mol Psychiatry 5: 439-442.

Bowen T, Guy CA, Cardno AG, Vincent JB, Kennedy JL, Jones LA, Gray M, Sanders RD, McCarthy G, Murphy KC, Owen MJ, O’Donovan MC. (2000) Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophrenia. Psychiatric Genetics 10: 33-37.

Pato CN, Macedo A, Ambrosio A, Vincent JB, Bauer A, Schindler K, Xu J, Coelho I, Dourado A, Valente J, Azevedo HM, Kennedy JL, Pato MT. (2000) Detection of expansion regions in bipolar families. Am J Med Genet (Neuropsychiatric Genetics) 96: 854-857

Vincent JB, Skaug J, Scherer SW. (2000) The human homologue of Flamingo 1, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-21.1. DNA Res 7: 233-235.

Vincent JB, Herbrick J-A, Gurling HMD, Bolton PF, Roberts W, Scherer SW. (2000) Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 67: 510-514.

Whitmore TE, Holloway J, Lofton-Day C, Maurer MF, Chan L, Vincent JB, Scherer SW, Lok S. (2000) Human prosecretin: gene structure, chromosomal localization and distribution of mRNA. Cytogenet Cell Genet 90: 47-52.

Vincent JB, Yuan Q-P, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O’Donovan MC, Paterson AD, Petronis A, Kennedy JL. (2000) Long repeat tracts at SCA8 in major psychosis. Am J Med Genet (Neuropsychiatr Genet) 96: 873-876

Petronis A, Vincent JB, Surh LC, Ashizawa T, Kennedy JL. (2000) Polyglutamine-containing proteins in schizophrenia: an effect of lymphoblastoid cells? Mol Psychiatry 5: 234-236.

Vincent JB, Masellis M, Lawrence J, Choi V, Gurling HMD, Parikh SV, Kennedy JL. (1999) Genetic association analysis in serotonin system genes for bipolar affective disorder. Am J Psych 156: 136-138.

Vincent JB, Kovacs M, Kroll R, Barr CL and Kennedy JL (1999) Intergenerational CAG repeat expansion at ERDA1 in a family with childhood onset depression, schizoaffective disorder and recurrent major depression. Am J Med Genet (Neuropsychiatr Genet) 88:79-82.

Parikh SV, Vincent JB, and Kennedy JL (1999) Clinical characteristics of bipolar disorder subjects with large CAG/CTG repeat DNA. J Affect Disord 55: 221-224.

Vincent JB, Petronis A, Strong E, Parikh SV, Meltzer HY, Lieberman J, Kennedy JL (1999) Analysis of genome-wide CAG/CTG repeats, and at SEF2-1B and ERDA1 in schizophrenia and bipolar affective disorder. Mol Psychiatry 4:229-234.

Kennedy JL, Bradwejn J, Koszycki D, King N, Crowe R, Vincent JB, and Fourie O (1999) Investigation of cholecystokinin system genes in panic disorder. Mol Psychiatry 4:284-285.

Vincent JB, Kalsi G, Klempan T, Tatuch Y, Sherrington RP, Petronis A, Breschel T, McInnis MG, Brynjolfsson J, Petursson H, Gurling HMD, Gottesman I, Torrey EF, and Kennedy JL (1998)No evidence of CAG or GAA repeats in schizophrenia families and monozygotic twins. Hum Genet 103: 41-47.

Vincent JB and Gurling HMD (1998) Point mutation in intron 10 of FMR-1 is unlikely to be cause of fragile X syndrome. Hum Mutat 12: 431-432.

Gurling HMD, Vincent JB, Bolton P, Melmer G, and Rutter M (1997) Molecular and cytogenetic investigation of the Fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes. Hum Hered 47: 254-262.

Macedo A, Valente J, Dourado A, Coelho I, Vincent JB, Amprosio A, Sasaki T, Pato CN, Pato MT, Azevedo MH and Kennedy JL (1997) Assessment for unstable DNA in schizophrenia in a Portuguese population: association with anticipation. Psiquitria Clinica 18: 61-67.

Vincent JB, Klempan T, Parikh SV, Sasaki T, Meltzer HY, Sirugo G, Cola P, Petronis A and Kennedy JL (1996) Frequency analysis of large CTG/CAG trinucleotide repeats in schizophrenia and bipolar affective disorder. Mol Psychiatry 1: 141-148.

Petronis A, Bassett A, Honer W, Vincent JB, Tatuch Y, Sasaki T, Ying D-J, Klempan T, and Kennedy J (1996) Search for Unstable DNA in Schizophrenia Families with Evidence for Genetic Anticipation. Am J Hum Genet 59: 905-911.

Vincent JB, Konecki DS, Munstermann E, Bolton P, Poutska AM, Poutska F, and Gurling HMD (1996) Point mutation analysis of the FMR-1 gene in autism. Mol Psychiatry 1: 227-231

Vincent JB, Gurling HMD, Melmer G (1994) Oligonucleotides as short as 7-mers can be used for PCR amplification. DNA Cell Biol 13: 75-82.

Tybjoerg-Hansen A, Gallagher J, Vincent JB, Houlsten R, Talmud P, Dunning AM, Seed M, Hamsten A, Humphries SE, Myant NB (1990) Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases. Atherosclerosis 80: 235-242.

Bashir A, Dawson S, Vincent JB, Powell J, Humphries S. and Henney A (1989) An AvaII polymorphism in the haptoglobin alpha gene (HPA). Nucleic Acids Res 17: 4906.

Book Chapters:

Vincent JB (1996) Unstable DNA as a possible etiological factor for schizophrenia. In Schizophrenia: Latest Advances in Understanding and Drug Development (Dirks LA, Ed) pp1.1.1-1.1.18 (IBC’s Biomedical Library Series, Southborough, MA).

Vincent JB, Petronis A, and Kennedy JL (1998) Unstable DNA in psychiatric disorders. In Genetics and Psychiatric Disorders (Wahlström, J., Ed), pp 179-192, Wenner-Gren International Symposium (Pergamon Press, Oxford).

Paterson AD, Naimark DMJ, Vincent JB, Kennedy JL, Petronis A. (1998) Genetic anticipation in neurological and other disorders. In Genetic Instabilities and Hereditary Neurological Disorders (Wells, R.D. and Warren, S.T., Eds) pp 413-428, (Academic Press, San Diego).



For a complete list of publications, click on the following link: PubMed Search For John B. Vincent