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CV van Dr. J.A.S. Vorstman

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Personal details

J.A.S. (Jacob) Vorstman, MD, PhD
Male

Date and place of birth: May 17th, 1972, Oss, the Netherlands
Nationality: Dutch

Education                   

Geneeskunde (Medicine)
Free University Amsterdam: Jan 15th 1999

Doctorate (PhD):
University of Utrecht, June 18th 2008
Supervisors: Prof. Dr. H. van Engeland, Prof. Dr. R.S. Kahn and Prof. Dr. F.A. Beemer.
Title of thesis: “Structural genomic abnormalities in autism and schizophrenia, with a focus on the 22q11.2 deletion syndrome”

Current employment
Assistant professor Psychiatry, University Medical Center Utrecht.

Brief summary of research over the last five years

Starting in 2001, my research focused on the psychiatric and genetic aspects of children with the 22q11.2 deletion syndrome (22q11DS). To this purpose, I have initiated 22q11DS specialty clinics in Utrecht and in Philadelphia, which has led to the largest ongoing longitudinal psychiatric study of 22q11.2DS children (n=125) worldwide.
Gradually I have broadened the scope from 22q11DS to a wider perspective; the role of structural genomic abnormalities in autism and schizophrenia. In 2006 I have published an analysis of all autism-related structural genomic abnormalities (Molecular Psychiatry, highest impact factor in the field of psychiatry, 15.04). To date, this paper has been cited 157 times. A similar study on structural genomic abnormalities in schizophrenia is under review.
Recently I published (Molecular Psychiatry 2010) on an autistic patient in whom a genetic ‘double hit’ (a deletion and a non-synonymous point mutation, both inherited) is likely to be causative. In 2010 my proposal to test this double hit as a potential genetic mechanism for autism in a large sample was awarded a 150K Euro research grant by the Dutch Brain Foundation. This project is carried out in collaboration with the international Autism Genome Project (AGP). Also, a similar project on the double hit in schizophrenia was awarded a 60K US dollar grant by the National Alliance National Alliance for Research on Schizophrenia and Depression (NARSAD).

Publicatielijst

Publications [Impact factor: 2009 Journal Citation Reports]

- International (refereed) journals

1.        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. 2011 Apr 27.                                                                                     [3.564]

2.        Buizer-Voskamp JE, Muntjewerff JW; Genetic Risk and Outcome in Psychosis (GROUP) Consortium, Strengman E, Sabatti C, Stefansson H, Vorstman JA, Ophoff RA (2011) Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients.
Biol Psychiatry 2011 Apr 12.                                                                                         [8.926]

3.        Bruining H, de Sonneville L,  Swaab H, de Jonge MV, Kas M, van Engeland H, Vorstman JAS (2010) Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotype
PlosOne, 2010, May 28;5(5).                                                                                        [4.351]

4.        Vorstman JAS, van Daalen E, Jalali, GR, Schmidt ERE, R. Pasterkamp J, de Jonge MV, Hennekam EAM, Janson E, Staal WG, van der Zwaag B, Burbach JPH, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. (2010) A double hit implicates DIAPH3 as an autism risk gene.
Molecular Psychiatry, 2010, Mar 23.                                                                              [15.049]

5.        Buizer-Voskamp JE, Franke L, Staal WG, van Daalen E, Kemner C, Ophoff RA, Vorstman, JA, van Engeland H, and Wijmenga C. (2010). 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.                                                                 [3.564]

6.        van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA,
Vorstman, JAS, van Daalen E, de Jonge M, Verbeek N, Brilstra EH, van 't Slot R, Ophoff RA, Van Es MA, Blauw HM, Veldink J, Buizer-Voskamp J,  Beemer FA,  van den Berg LH, Wijmenga C, Ploos van Amstel HK, van Engeland H, Burbach JPH, Staal WG (2009). Gene-network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism. 
PlosOne, 2009, May 28;4(5).                                                                                        [4.351]

7.        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. (2008). Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT(158) Allele.
Neuropsychopharmacology, 2009, Feb;34(3):739-46.                                                        [6.993]

8.        Vorstman JA, Chow EW, Ophoff RA, van Engeland H, Beemer FA, Kahn RS, Sinke RJ, and Bassett AS. (2009). Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. 
Am. J. Med. Genet. B, 2009, Apr 5;150B(3):430-3.                                                           [3.807]

9.        Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, and Emanuel BS. (2008). Detailed analysis of 22q11.2 with a high density MLPA probe set. 
Hum. Mutat, 2008 Mar;29(3):433-40.                                                                             [6.887]

10.    Hoogendoorn ML, Vorstman JA, Jalali GR, Selten JP, Sinke RJ, Emanuel BS, Kahn RS. (2008). Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.
Schizophr. Res, 2008 Jan;98(1-3):84-8                                                                          [4.458]

11.    Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto DD, Medne L, Emanuel BS. (2007). A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. 
Genome Res, 2007 Apr;17(4):470-81.                                                                           [11.342]

12.    Jansen PW, Duijff SN, Beemer FA, Vorstman JA, Klaassen PW, Morcus ME, Heineman- de Boer JA. (2007). 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;143(6):574-80.                                                          [2.404]

13.    Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. (2006). 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.                                       [4.983]

13.    , Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. (2006). The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.  J. Am. Acad. Child Adolesc. Psychiatry,                                            [4.983]

14.    Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS. (2006).MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. 
Hum. Mutat, 2006 Aug;27(8):814-21.                                                                             [6.887]

15.    Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. (2006). Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. 
Molecular Psychiatry, 2006 Jan;11(1):1, 18-28.                                                              [15.049]

16.    Vorstman J, Lahuis B, and Buitelaar JK. (2001). SSRIs associated with behavioral activation and suicidal ideation. 
J. Am. Acad. Child Adolesc. Psychiatry, 2001 Dec;40(12):1364-5                                        [4.983]

 


- National (refereed) journals

17.    Vorstman JA and Kuiper H. (2004). [Peripheral facial palsy in children: test for lyme borreliosis only in the presence of other clinical signs]. 
Ned. Tijdschr. Geneeskd. 2004 Apr 3;148(14):655-8.

18.    Vorstman JA, de Ranitz AG, Udink ten Cate FE, Beemer FA, Kahn RS. (2002). [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

 


- Bookchapters

Chapter entitled: “Genetica van schizofrenie” in: Handboek Schizofrenie, onder redactie van W. Cahn et al., Tijdstroom uitgeverij Utrecht.


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