dr. J.A.S. (Jacob) Vorstman

Assistant Professor - medical

  • Psychiatry

dr. J.A.S. (Jacob) Vorstman

Research Programs


Jacob Vorstman was trained to become a psychiatrist (2008) and a Child & Adolescent Psychiatrist (2009) at the University Medical Center Utrecht. He defended his PhD thesis at the University of Utrecht / Rudolf Magnus Institute of Neuroscience in 2008 on the genetic and psychiatric aspects of the 22q11.2 deletion syndrome.  Currently, he combines his clinical work at the department of psychiatry with several ongoing research projects in the field of the genetics of autism and schizophrenia.

From 2004 to 2006 he worked in the Genetics lab of Prof. Dr. B. Emanuel, Division of Human Genetics and Molecular Biology at the University of Pennsylvania. He learned the practical and analytical aspects of molecular genetic research using different methods (FISH, PCR, MLPA, Real-time PCR, RNA expression) on genetic material from 22q11DS patients. Concurrently, h worked at the Department of Child en Adolescent Psychiatry of the Children’s Hospital of Philadelphia where  he has set up a child psychiatry outpatient clinic for 22q11DS patients.

Gradually he has broadened the scope from 22q11DS to a wider perspective; the role of structural genomic abnormalities in autism and schizophrenia and trying to advance our understanding of the genetic architecture underlying these disorders. 

Currently, he is the PI of a research lab at the Brain Center Rudolf Magnus, his team includes a post doctoral fellow, a research assistant, a PhD student and several master students. To date he has supervised four PhD students towards a successful defense of their thesis. He is the PI of two large, funded, genetic studies in autism and schizophrenia. In addition Dr Vorstman is an executive board member in an international consortium for the study of the behavioral phenotype in the 22q11.2 deletion syndrome. This consortium encompasses 22 research sites en is funded by the NIMH (12M US Dollar). One of his strengths is his combined experience; he succesfully integrates his research tasks at the Brain Center with a clinical appointment as a child and adolescent psychiatrist at the University Medical Center Utrecht. Over the past years he has been fortunate to develop close and productive collaborations with many investigators in the genetics of psychiatric disorders across the world.

Research line

Genetics of developmental disorders and psychosis

Most recent key publications

1: Vorstman JA, Ophoff RA; Genetic causes of developmental disorders. Curr Opin Neurol. 2013 Feb 19
2: Vorstman JA, Anney RJ, Derks EM, Gallagher L, Gill M, de Jonge MV, van Engeland H, Kahn RS, Ophoff RA; the Autism Genome Project, the International Schizophrenia Consortium. No evidence that common genetic risk variation is shared between schizophrenia and autism. Am J Med Genet B. 2013 Jan
3: 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.
4: 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
5: 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.

Fellowship and Awards

  • 1:  2012: University of Utrecht, Intensive Workshop Grant: 5,000 Euro
    2:  2011:  Rudolf Magnus Research Prize: 3,000 Euro (yearly award for the best scientific paper of the preceding year, evaluated by an external jury).
    3:  2010:  NARSAD Young Investigator Award: USD 60,000, “On the role of CNVs in schizophrenia: what about the other allele?”
    4:  2010:  Dutch Brain Foundation (Nederlandse Hersen Stichting): 150,000 Euro Fellowship grant for the research project entitled: “On the role of copy number variants in autism: what about the other allele?”
    5:  2006:  NARSAD Young Investigator Award: USD 60,000, “Clinical and Genetic Aspects of Psychosis in the 22q11.2 Deletion Syndrome”

Research Output (100)

The role of rare compound heterozygous events in autism spectrum disorder

Lin Bochao Danae, Colas Fabrice, Nijman Isaac J., Medic Jelena, Brands William, Parr Jeremy R., van Eijk Kristel R., Klauck Sabine M., Chiocchetti Andreas G., Freitag Christine M., Maestrini Elena, Bacchelli Elena, Coon Hilary, Vicente Astrid, Oliveira Guiomar, Pagnamenta Alistair T., Gallagher Louise, Ennis Sean, Anney Richard, Bourgeron Thomas, Luykx Jurjen J., Vorstman Jacob 22 jun 2020, In: Translational Psychiatry. 10 , p. 204

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins

Vervoort Lisanne, Demaerel Wolfram, Rengifo Laura Y, Odrzywolski Adrian, Vergaelen Elfi, Hestand Matthew S, Breckpot Jeroen, Devriendt Koen, Swillen Ann, McDonald-McGinn Donna M, Fiksinski Ania M, Zinkstok Janneke R, Morrow Bernice E, Heung Tracy, Vorstman Jacob A S, Bassett Anne S, Chow Eva W C, Shashi Vandana, Vermeesch Joris R, 15 nov 2019, In: Human Molecular Genetics. 28 , p. 3724-3733 10 p.

Neurobiological perspective of 22q11.2 deletion syndrome

Zinkstok Janneke R., Boot Erik, Bassett Anne S., Hiroi Noboru, Butcher Nancy J., Vingerhoets Claudia, Vorstman Jacob A.S., van Amelsvoort Therese A.M.J. 1 nov 2019, In: The Lancet Psychiatry. 6 , p. 951-960 10 p.

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia

Fiksinski A. M., Breetvelt E. J., Lee Y. J., Boot E., Butcher N., Palmer L., Chow E. W.C., Kahn R. S., Vorstman J. A.S., Bassett A. S. 1 apr 2019, In: Psychological Medicine. 49 , p. 1047-1054 8 p.

Double hits in schizophrenia

Vorstman Jacob A.S., Olde Loohuis Loes M., Kahn René S., Ophoff Roel A. 1 aug 2018, In: Human Molecular Genetics. 27 , p. 2755-2761 7 p.

Preventive strategies for mental health

Arango Celso, Díaz-Caneja Covadonga M., McGorry Patrick D., Rapoport Judith, Sommer Iris E., Vorstman Jacob A., McDaid David, Marín Oscar, Serrano-Drozdowskyj Elena, Freedman Robert, Carpenter William 1 jul 2018, In: The Lancet Psychiatry. 5 , p. 591-604 14 p.

Analysis of shared heritability in common disorders of the brain

Anttila Verneri, Bulik-Sullivan Brendan, Finucane Hilary K, Walters Raymond K, Bras Jose, Duncan Laramie, Escott-Price Valentina, Falcone Guido J, Gormley Padhraig, Malik Rainer, Patsopoulos Nikolaos A, Ripke Stephan, Wei Zhi, Yu Dongmei, Lee Phil H, Turley Patrick, Grenier-Boley Benjamin, Chouraki Vincent, Kamatani Yoichiro, Berr Claudine, Letenneur Luc, Hannequin Didier, Amouyel Philippe, Boland Anne, Deleuze Jean-François, Duron Emmanuelle, Vardarajan Badri N, Reitz Christiane, Goate Alison M, Huentelman Matthew J, Kamboh M Ilyas, Larson Eric B, Rogaeva Ekaterina, St George-Hyslop Peter, Hakonarson Hakon, Kukull Walter A, Farrer Lindsay A, Barnes Lisa L, Beach Thomas G, Demirci F Yesim, Head Elizabeth, Hulette Christine M, Jicha Gregory A, Lindhout Dick, Pulit Sara, Vorstman Jacob, Ophoff Roel, Cahn Wiepke, van Os Jim, Koeleman Bobby, 22 jun 2018, In: Science. 360

Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome

Bassett Anne S., Lowther Chelsea, Merico Daniele, Costain Gregory, Chow Eva W C, Van Amelsvoort Therese, McDonald-Mcginn Donna M., Gur Raquel E., Swillen Ann, van den Bree Marianne B M, Murphy Kieran C., Gothelf Doron, Bearden Carrie E., Eliez Stephan, Kates Wendy R., Philip Nicole, Sashi Vandana, Campbell Linda E., Vorstman Jacob, Cubells Joseph, Repetto Gabriela M., Simon Tony J., Boot Erik, Heung Tracy, Evers Rens, Vingerhoets Claudia, Van Duin Esther, Zackai Elaine, Vergaelen Elfi, Devriendt Koen, Vermeesch Joris R., Owen Michael J, Murphy Clodagh M., Michaelovosky Elena, Kushan Leila, Schneider Maude, Fremont Wanda, Busa Tiffany, Hooper Stephen R., McCabe Kathryn, Duijff Sasja, Isaev Karin, Pellecchia Giovanna, Wei John, Gazzellone Matthew J., Scherer Stephen W., Emanuel Beverly S., Guo Tingwei, Morrow Bernice E., Marshall Christian R. 1 nov 2017, In: American Journal of Psychiatry. 174 , p. 1054-1063 10 p.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel Wolfram, Hestand Matthew S., Vergaelen Elfi, Swillen Ann, López-Sánchez Marcos, Pérez-Jurado Luis A., McDonald-Mcginn Donna M., Zackai Elaine, Emanuel Beverly S., Morrow Bernice E., Breckpot Jeroen, Devriendt Koenraad, Vermeesch Joris R., Antshel Kevin M., Arango Celso, Armando Marco, Bassett Anne S., Bearden Carrie E., Boot Erik, Bravo-Sanchez Marta, Breetvelt Elemi, Busa Tiffany, Butcher Nancy J., Campbell Linda E., Carmel Miri, Chow Eva W C, Crowley T. Blaine, Cubells Joseph, Cutler David, Demaerel Wolfram, Digilio Maria Cristina, Duijff Sasja, Eliez Stephan, Emanuel Beverly S., Epstein Michael P., Evers Rens, Fernandez Garcia-Moya Luis, Fiksinski Ania, Fraguas David, Fremont Wanda, Fritsch Rosemarie, Garcia-Minaur Sixto, Golden Aaron, Gothelf Doron, Guo Tingwei, Gur Ruben C., Gur Raquel E., Heine-Suner Damian, Hestand Matthew, Vorstman Jacob, 5 okt 2017, In: American Journal of Human Genetics. 101 , p. 616-622 7 p.

Autism genetics:opportunities and challenges for clinical translation

Vorstman Jacob A S, Parr Jeremy R, Moreno-De-Luca Daniel, Anney Richard J L, Nurnberger John I, Hallmayer Joachim F jun 2017, In: Nature Reviews. Genetics. 18 , p. 362-376 15 p.

All Research Output (100)