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

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

Associate Professor
dr. J.A.S. (Jacob) Vorstman
  • Integral pediatrics research

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 (116)

The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility

Everaert Emma, Selten Iris, Boerma Tessel, Houben Michiel, Vorstman Jacob, de Wilde Hester, Derksen Desiree, Haverkamp Sarah, Wijnen Frank, Gerrits Ellen 13 Dec 2022, In: American journal of speech-language pathology. 32 , p. 128-144 17 p.

Barriers to genetic testing in clinical psychiatry and ways to overcome them:from clinicians’ attitudes to sociocultural differences between patients across the globe

Pinzón-Espinosa Justo, van der Horst Marte, Zinkstok Janneke, Austin Jehannine, Aalfs Cora, Batalla Albert, Sullivan Patrick, Vorstman Jacob, Luykx Jurjen J. 11 Oct 2022, In: Translational Psychiatry. 12

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Korteling Dorinde, Boks Marco P, Fiksinski Ania M, van Hoek Ilja N, Vorstman Jacob A S, Verhoeven-Duif Nanda M, Jans Judith J M, Zinkstok Janneke R 9 Mar 2022, In: Translational Psychiatry. 12 , p. 1-7

A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment

Breetvelt Elemi J., Smit Karel C., van Setten Jessica, Merico Daniele, Wang Xiao, Vaartjes Ilonca, Bassett Anne S., Boks Marco P.M., Szatmari Peter, Scherer Stephen W., Kahn René S., Vorstman Jacob A.S. 2022, In: Biological Psychiatry. 91 , p. 718-726 9 p.

Leidraad genetisch testen in de psychiatrie

van der Horst M. Z., Aalfs C. M., Vorstman J. A.S., Luykx J. J., Zinkstok J. R. 2022, In: Tijdschrift voor Psychiatrie. 64 , p. 278-285 8 p.

Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression

Lin Amy, Forsyth Jennifer K, Hoftman Gil D, Kushan-Wells Leila, Jalbrzikowski Maria, Dokuru Deepika, Coppola Giovanni, Fiksinski Ania, Zinkstok Janneke, Vorstman Jacob, Nachun Daniel, Bearden Carrie E Dec 2021, In: Brain, behavior, & immunity - health. 18 , p. 1-13

Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome

Selten Iris, Boerma Tessel, Everaert Emma, Vansteensel Mariska J., Vorstman Jacob, Wijnen Frank Dec 2021, In: Research in Developmental Disabilities. 119 , p. 1-11

Psychiatric phenotypes associated with hyperprolinemia:A systematic review

Namavar Yasmin, Duineveld Denise Joanne, Both Geertje Ingena Angelique, Fiksinski Ania Maria, Vorstman Jacob Abraham Schrey, Verhoeven-Duif Nanda Margriet, Zinkstok Janneke Rozemarijn 24 Jul 2021, In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 186 , p. 289-317 29 p.

Same or different? Language skills of children with 22q11.2 Deletion Syndrome and children with Developmental Language Disorder

Everaert Emma, Selten Iris, Boerma Tessel, Hulshof Merel, Houben ML, Vorstman Jacob, Gerrits Elianne, Wijnen Frank 3 Jun 2021,

Neurodevelopmental Trajectories and Psychiatric Morbidity:Lessons Learned From the 22q11.2 Deletion Syndrome

Fiksinski Ania M, Schneider Maude, Zinkstok Janneke, Baribeau Danielle, Chawner Samuel J R A, Vorstman Jacob A S Mar 2021, In: Current Psychiatry Reports. 23

All research output

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