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Jacob Vorstman

TitleStaff Psychiatrist
InstitutionThe Hospital for Sick Children
DepartmentPsychiatry
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. J Neurodev Disord. 2019 Feb 07; 11(1):3. PMID: 30732576.
      View in: PubMed
    2. Vingerhoets C, van Oudenaren MJF, Bloemen OJN, Boot E, van Duin EDA, Evers LJM, Fiksinski AM, Breetvelt EJ, Palmer LD, Vergaelen E, Vogels A, Meijer C, Booij J, de Haan L, Swillen A, Vorstman JAS, Bassett AS, van Amelsvoort TAMJ. Low prevalence of substance use in people with 22q11.2 deletion syndrome. Br J Psychiatry. 2019 Jan 03; 1-7. PMID: 30604657.
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    3. Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. Am J Med Genet A. 2018 Oct; 176(10):2172-2181. PMID: 30289625.
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    4. Porcelli S, Van Der Wee N, van der Werff S, Aghajani M, Glennon JC, van Heukelum S, Mogavero F, Lobo A, Olivera FJ, Lobo E, Posadas M, Dukart J, Kozak R, Arce E, Ikram A, Vorstman J, Bilderbeck A, Saris I, Kas MJ, Serretti A. Social brain, social dysfunction and social withdrawal. Neurosci Biobehav Rev. 2019 Feb; 97:10-33. PMID: 30244163.
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    5. Fiksinski AM, Schneider M, Murphy CM, Armando M, Vicari S, Canyelles JM, Gothelf D, Eliez S, Breetvelt EJ, Arango C, Vorstman JAS. Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Oct; 176(10):2182-2191. PMID: 30194907.
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    6. Niarchou M, Chawner SJRA, Fiksinski A, Vorstman JAS, Maeder J, Schneider M, Eliez S, Armando M, Pontillo M, Vicari S, McDonald-McGinn DM, Emanuel BS, Zackai EH, Bearden CE, Shashi V, Hooper SR, Owen MJ, Gur RE, Wray NR, van den Bree MBM, Thapar A. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophr Res. 2019 Feb; 204:320-325. PMID: 30093352.
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    7. Fiksinski AM, Breetvelt EJ, Lee YJ, Boot E, Butcher N, Palmer L, Chow EWC, Kahn RS, Vorstman JAS, Bassett AS. Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia. Psychol Med. 2019 Apr; 49(6):1047-1054. PMID: 30064532.
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    8. Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018 06 22; 360(6395). PMID: 29930110.
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    9. Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Villalon-Reina JE, Qu X, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, Fremont W, Campbell LE, McCabe KL, Daly E, Gudbrandsen M, Murphy CM, Murphy D, Craig M, Vorstman J, Fiksinski A, Koops S, Ruparel K, Roalf DR, Gur RE, Schmitt JE, Simon TJ, Goodrich-Hunsaker NJ, Durdle CA, Bassett AS, Chow EWC, Butcher NJ, Vila-Rodriguez F, Doherty J, Cunningham A, van den Bree MBM, Linden DEJ, Moss H, Owen MJ, Murphy KC, McDonald-McGinn DM, Emanuel B, van Erp TGM, Turner JA, Thompson PM, Bearden CE. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Mol Psychiatry. 2018 Jun 13. PMID: 29895892.
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    10. Butcher NJ, Boot E, Lang AE, Andrade D, Vorstman J, McDonald-McGinn D, Bassett AS. Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series. Am J Med Genet A. 2018 Oct; 176(10):2146-2159. PMID: 29777584.
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    11. Arango C, Díaz-Caneja CM, McGorry PD, Rapoport J, Sommer IE, Vorstman JA, McDaid D, Marín O, Serrano-Drozdowskyj E, Freedman R, Carpenter W. Preventive strategies for mental health. Lancet Psychiatry. 2018 Jul; 5(7):591-604. PMID: 29773478.
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    12. Vorstman JAS, Olde Loohuis LM, Kahn RS, Ophoff RA. Double Hits in Schizophrenia. Hum Mol Genet. 2018 May 14. PMID: 29767709.
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    13. Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Hum Mol Genet. 2018 04 01; 27(7):1150-1163. PMID: 29361080.
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    14. de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA. Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia. Mol Psychiatry. 2018 Jan 04. PMID: 29302076.
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    15. Nuninga JO, Bohlken MM, Koops S, Fiksinski AM, Mandl RCW, Breetvelt EJ, Duijff SN, Kahn RS, Sommer IEC, Vorstman JAS. White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline. Psychol Med. 2018 07; 48(10):1655-1663. PMID: 29143717.
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    16. Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, Owen M, Swillen A, Van den Bree M, Vermeesch J, Vorstman JAS, Warren S, Lehner T, Morrow B. A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Mol Psychiatry. 2017 Dec; 22(12):1664-1672. PMID: 28761081.
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    17. Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017 11 01; 174(11):1054-1063. PMID: 28750581.
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    18. Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017 06; 18(6):362-376. PMID: 28260791.
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    19. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611. PMID: 28263302.
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    20. Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder. J Clin Invest. 2017 Mar 01; 127(3):1005-1018. PMID: 28192369.
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    21. Fiksinski AM, Breetvelt EJ, Duijff SN, Bassett AS, Kahn RS, Vorstman JAS. Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study. Schizophr Res. 2017 10; 188:59-62. PMID: 28119035.
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    22. de Sonneville LMJ, Hidding E, van Engeland H, Vorstman JAS, Sijmens-Morcus MEJ, Swaab H. [Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome. Child Neuropsychol. 2018 Jan; 24(1):1-19. PMID: 27608887.
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    23. Hidding E, Swaab H, de Sonneville LM, van Engeland H, Vorstman JA. The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome. Clin Genet. 2016 11; 90(5):420-427. PMID: 26919535.
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    24. Sommer IE, Bearden CE, van Dellen E, Breetvelt EJ, Duijff SN, Maijer K, van Amelsvoort T, de Haan L, Gur RE, Arango C, Díaz-Caneja CM, Vinkers CH, Vorstman JA. Early interventions in risk groups for schizophrenia: what are we waiting for? NPJ Schizophr. 2016; 2:16003. PMID: 27336054; PMCID: PMC4849435.
    25. Klaassen P, Duijff S, Swanenburg de Veye H, Beemer F, Sinnema G, Breetvelt E, Schappin R, Vorstman J. Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion. Am J Med Genet B Neuropsychiatr Genet. 2016 09; 171(6):790-6. PMID: 26953189.
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    26. Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85. PMID: 26742502; PMCID: PMC4896312.
    27. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 11 19; 1:15071. PMID: 27189754; PMCID: PMC4900471.
    28. Loohuis LM, Vorstman JA, Ori AP, Staats KA, Wang T, Richards AL, Leonenko G, Walters JT, DeYoung J, Cantor RM, Ophoff RA. Genome-wide burden of deleterious coding variants increased in schizophrenia. Nat Commun. 2015 Jul 09; 6:7501. PMID: 26158538; PMCID: PMC4499856.
    29. Persico AM, Arango C, Buitelaar JK, Correll CU, Glennon JC, Hoekstra PJ, Moreno C, Vitiello B, Vorstman J, Zuddas A. Unmet needs in paediatric psychopharmacology: Present scenario and future perspectives. Eur Neuropsychopharmacol. 2015 Oct; 25(10):1513-31. PMID: 26166453.
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    30. Boot E, Butcher NJ, Vorstman JA, van Amelsvoort TA, Fung WL, Bassett AS. Pharmacological treatment of 22q11.2 deletion syndrome-related psychoses. Pharmacopsychiatry. 2015 Sep; 48(6):219-20. PMID: 26091278.
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    31. Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 07; 96(5):753-64. PMID: 25892112; PMCID: PMC4570279.
    32. Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry. 2015 Apr; 72(4):377-85. PMID: 25715178.
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    33. Hidding E, Swaab H, de Sonneville LM, van Engeland H, Sijmens-Morcus ME, Klaassen PW, Duijff SN, Vorstman JA. Intellectual functioning in relation to autism and ADHD symptomatology in children and adolescents with 22q11.2 deletion syndrome. J Intellect Disabil Res. 2015 Sep; 59(9):803-15. PMID: 25683771.
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    34. Luykx JJ, Bakker SC, Visser WF, Verhoeven-Duif N, Buizer-Voskamp JE, den Heijer JM, Boks MP, Sul JH, Eskin E, Ori AP, Cantor RM, Vorstman J, Strengman E, DeYoung J, Kappen TH, Pariama E, van Dongen EP, Borgdorff P, Bruins P, de Koning TJ, Kahn RS, Ophoff RA. Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma. Mol Psychiatry. 2015 Dec; 20(12):1557-64. PMID: 25666758.
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    35. Vorstman J, Breetvelt E. [In Process Citation]. Tijdschr Psychiatr. 2015; 57(8):613-4. PMID: 26437477.
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    36. Vorstman JA, Breetvelt EJ, Hillegers MH, Scheepers FE. [Psychosis: recognising the symptoms and disorders in children and adolescents]. Tijdschr Psychiatr. 2015; 57(12):928-32. PMID: 26727572.
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    37. Klaassen PW, Duijff SN, Sinnema G, Beemer FA, Swanenburg de Veye HF, Vorstman JA. Behavioral phenotype in children with 22q11DS: agreement between parents and teachers. Psychol Assess. 2015 Mar; 27(1):272-9. PMID: 25436664.
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    38. Spruijt NE, Vorstman JA, Kon M, Mink van der Molen AB. Self-reported speech problems in adolescents and young adults with 22q11.2 deletion syndrome: a cross-sectional cohort study. Arch Plast Surg. 2014 Sep; 41(5):472-9. PMID: 25276637; PMCID: PMC4179349.
    39. Schneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree M, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, Shashi V, Hooper SR, Bearden CE, Jalbrzikowski M, Armando M, Vicari S, Murphy DG, Ousley O, Campbell LE, Simon TJ, Eliez S. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014 Jun; 171(6):627-39. PMID: 24577245.
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    40. 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 01; 94(5):677-94. PMID: 24768552.
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    41. Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF. Behavioral signatures related to genetic disorders in autism. Mol Autism. 2014 Feb 11; 5(1):11. PMID: 24517317; PMCID: PMC3936826.
    42. Vorstman JA, Spooren W, Persico AM, Collier DA, Aigner S, Jagasia R, Glennon JC, Buitelaar JK. Using genetic findings in autism for the development of new pharmaceutical compounds. Psychopharmacology (Berl). 2014 Mar; 231(6):1063-78. PMID: 24292384.
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    43. Duijff SN, Klaassen PW, Swanenburg de Veye HF, Beemer FA, Sinnema G, Vorstman JA. Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study. Res Dev Disabil. 2013 Sep; 34(9):2937-45. PMID: 23816629.
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    44. Vorstman JA, Ophoff RA. Genetic causes of developmental disorders. Curr Opin Neurol. 2013 Apr; 26(2):128-36. PMID: 23429547.
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    45. Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013 Mar 07; 92(3):439-47. PMID: 23453669; PMCID: PMC3591861.
    46. Buizer-Voskamp JE, Blauw HM, Boks MP, van Eijk KR, Veldink JH, Hennekam EA, Vorstman JA, Mulder F, Tiemeier H, Uitterlinden AG, Kiemeney LA, van den Berg LH, Kahn RS, Sabatti C, Ophoff RA. Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet. 2013 Apr; 132(4):443-50. PMID: 23315237.
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    47. Klaassen P, Duijff S, Swanenburg de Veye H, Vorstman J, Beemer F, Sinnema G. Behavior in preschool children with the 22q11.2 deletion syndrome. Am J Med Genet A. 2013 Jan; 161A(1):94-101. PMID: 23239609.
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    48. Vorstman JA, Anney RJ, Derks EM, Gallagher L, Gill M, de Jonge MV, van Engeland H, Kahn RS, Ophoff RA. No evidence that common genetic risk variation is shared between schizophrenia and autism. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan; 162B(1):55-60. PMID: 23193033.
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    49. Vorstman JA, Breetvelt EJ, Thode KI, Chow EW, Bassett AS. Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res. 2013 Jan; 143(1):55-9. PMID: 23153825.
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    50. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet. 2012 Nov 01; 21(21):4781-92. PMID: 22843504.
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    51. Derks EM, Vorstman JA, Ripke S, Kahn RS, Ophoff RA. Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis. PLoS One. 2012; 7(6):e37852. PMID: 22761660.
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    52. Ozgen H, Wijkstra J, Vorstman J. Successful electroconvulsive therapy in a young woman with chronic catatonia. Prim Care Companion CNS Disord. 2012; 14(3). PMID: 23106021; PMCID: PMC3466030.
    53. Duijff SN, Klaassen PW, de Veye HF, Beemer FA, Sinnema G, Vorstman JA. Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry. 2012 Jun; 200(6):462-8. PMID: 22661678.
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    54. Terwisscha van Scheltinga A, Bakker S, van Haren N, Buizer-Voskamp J, Boos H, Vorstman J, Cahn W, Hulshoff Pol H, Ophoff R, Kahn R. Association study of copy number variants with brain volume in schizophrenia patients and healthy controls. Psychiatry Res. 2012 Dec 30; 200(2-3):1011-3. PMID: 22551941.
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    55. Baker K, Vorstman JA. Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? Curr Opin Neurol. 2012 Apr; 25(2):131-7. PMID: 22395003.
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    56. Duijff S, Klaassen P, Beemer F, Swanenburg de Veye H, Vorstman J, Sinnema G. Intelligence and visual motor integration in 5-year-old children with 22q11-deletion syndrome. Res Dev Disabil. 2012 Mar-Apr; 33(2):334-40. PMID: 22119678.
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    57. Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. Cytogenet Genome Res. 2011; 135(3-4):174-202. PMID: 22056632.
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    58. Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet. 2012 Apr; 131(4):565-79. PMID: 21996756.
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    59. Magnée MJ, Lamme VA, de Sain-van der Velden MG, Vorstman JA, Kemner C. Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome. PLoS One. 2011; 6(10):e25882. PMID: 21998713; PMCID: PMC3187802.
    60. van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M. Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics. 2011 Nov; 12(4):315-23. PMID: 21837366; PMCID: PMC3215885.
    61. da Silva Alves F, Boot E, Schmitz N, Nederveen A, Vorstman J, Lavini C, Pouwels PJ, Pouwels P, de Haan L, Linszen D, van Amelsvoort T. Proton magnetic resonance spectroscopy in 22q11 deletion syndrome. PLoS One. 2011; 6(6):e21685. PMID: 21738766; PMCID: PMC3128078.
    62. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011 Aug; 159(2):332-9.e1. PMID: 21570089; PMCID: PMC3197829.
    63. Buizer-Voskamp JE, Muntjewerff JW, Strengman E, Sabatti C, Stefansson H, Vorstman JA, Ophoff RA. Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry. 2011 Oct 01; 70(7):655-62. PMID: 21489405; PMCID: PMC3137747.
    64. Bruining H, de Sonneville L, Swaab H, de Jonge M, Kas M, van Engeland H, Vorstman J. Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS One. 2010 May 28; 5(5):e10887. PMID: 20526357; PMCID: PMC2878316.
    65. Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. A double hit implicates DIAPH3 as an autism risk gene. Mol Psychiatry. 2011 Apr; 16(4):442-51. PMID: 20308993; PMCID: PMC3334288.
    66. Buizer-Voskamp JE, Franke L, Staal WG, van Daalen E, Kemner C, Ophoff RA, Vorstman JA, van Engeland H, Wijmenga C. Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism. Eur J Hum Genet. 2010 May; 18(5):588-95. PMID: 19935830; PMCID: PMC2987310.
    67. van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA, van Daalen E, de Jonge MV, Verbeek NE, Brilstra EH, van 't Slot R, Ophoff RA, van Es MA, Blauw HM, Veldink JH, Buizer-Voskamp JE, Beemer FA, van den Berg LH, Wijmenga C, van Amstel HK, van Engeland H, Burbach JP, Staal WG. Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One. 2009 May 28; 4(5):e5324. PMID: 19492091; PMCID: PMC2683930.
    68. Vorstman JA, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, Bassett AS. Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 05; 150B(3):430-3. PMID: 18646052; PMCID: PMC3127866.
    69. Stam AJ, Schothorst PF, Vorstman JA, Staal WG. The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder. Appl Clin Genet. 2009; 2:7-13. PMID: 23776346.
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    70. Vorstman JA, Turetsky BI, Sijmens-Morcus ME, de Sain MG, Dorland B, Sprong M, Rappaport EF, Beemer FA, Emanuel BS, Kahn RS, van Engeland H, Kemner C. Proline affects brain function in 22q11DS children with the low activity COMT 158 allele. Neuropsychopharmacology. 2009 Feb; 34(3):739-46. PMID: 18769474; PMCID: PMC2817942.
    71. Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40. PMID: 18033723; PMCID: PMC2664158.
    72. Hoogendoorn ML, Vorstman JA, Jalali GR, Selten JP, Sinke RJ, Emanuel BS, Kahn RS. Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia. Schizophr Res. 2008 Jan; 98(1-3):84-8. PMID: 17964762; PMCID: PMC2810966.
    73. Jansen PW, Duijff SN, Beemer FA, Vorstman JA, Klaassen PW, Morcus ME, Heineman-de Boer JA. Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. Am J Med Genet A. 2007 Mar 15; 143A(6):574-80. PMID: 17318841.
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    74. Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto Duffy D, Medne L, Emanuel BS. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. Genome Res. 2007 Apr; 17(4):470-81. PMID: 17351131; PMCID: PMC1832094.
    75. Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry. 2006 Sep; 45(9):1104-13. PMID: 16926618.
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    76. Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat. 2006 Aug; 27(8):814-21. PMID: 16791841; PMCID: PMC2814414.
    77. Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry. 2006 Jan; 11(1):1, 18-28. PMID: 16205736.
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    78. Vorstman JA, Kuiper H. [Peripheral facial palsy in children: test for lyme borreliosis only in the presence of other clinical signs]. Ned Tijdschr Geneeskd. 2004 Apr 03; 148(14):655-8. PMID: 15106315.
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    79. Vorstman JA, de Ranitz AG, Udink ten Cate FE, Beemer FA, Kahn RS. [A bifid uvula in a patient with schizophrenia as a sign of 22q11 deletion syndrome]. Ned Tijdschr Geneeskd. 2002 Oct 26; 146(43):2033-6. PMID: 12428463.
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    80. Vorstman J, Lahuis B, Buitelaar JK. SSRIs associated with behavioral activation and suicidal ideation. J Am Acad Child Adolesc Psychiatry. 2001 Dec; 40(12):1364-5. PMID: 11765279.
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