Peter Heutink

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. pmc Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways
    Iraad F Bronner
    Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, and Center for Neurogenomics and Cognitive Research, VU University Medical Center and VU University, Amsterdam, The Netherlands
    PLoS ONE 4:e6826. 2009
  2. pmc Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population
    Javier Simon-Sanchez
    Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands
    PLoS ONE 4:e7494. 2009
  3. pmc Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
    P F Sullivan
    Department of Genetics, University of North Carolina, Chapel Hill, NC 27599 7264, USA
    Mol Psychiatry 14:359-75. 2009
  4. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
  5. doi request reprint Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
    Maria G Macedo
    Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Mov Disord 24:196-203. 2009
  6. ncbi request reprint Progranulin mutations in Dutch familial frontotemporal lobar degeneration
    Iraad F Bronner
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands
    Eur J Hum Genet 15:369-74. 2007
  7. ncbi request reprint DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia
    Patrizia Rizzu
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 55:113-8. 2004
  8. doi request reprint The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012
  9. ncbi request reprint Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 121:168-73. 2003
  10. pmc Genome-wide association study confirms extant PD risk loci among the Dutch
    Javier Simon-Sanchez
    Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 19:655-61. 2011

Collaborators

Detail Information

Publications40

  1. pmc Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways
    Iraad F Bronner
    Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, and Center for Neurogenomics and Cognitive Research, VU University Medical Center and VU University, Amsterdam, The Netherlands
    PLoS ONE 4:e6826. 2009
    ....
  2. pmc Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population
    Javier Simon-Sanchez
    Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands
    PLoS ONE 4:e7494. 2009
    ....
  3. pmc Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
    P F Sullivan
    Department of Genetics, University of North Carolina, Chapel Hill, NC 27599 7264, USA
    Mol Psychiatry 14:359-75. 2009
    ..With the integrated replication effort, we present a specific hypothesis for further studies...
  4. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
    ....
  5. doi request reprint Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
    Maria G Macedo
    Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Mov Disord 24:196-203. 2009
    ..The low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution...
  6. ncbi request reprint Progranulin mutations in Dutch familial frontotemporal lobar degeneration
    Iraad F Bronner
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands
    Eur J Hum Genet 15:369-74. 2007
    ..Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands...
  7. ncbi request reprint DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia
    Patrizia Rizzu
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 55:113-8. 2004
    ..Our study extends the view that different neurodegenerative diseases may have similar pathological mechanisms, and that these processes likely include DJ-1...
  8. doi request reprint The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012
    ..Neuropathological hallmarks include neuronal and glial inclusions, and dystrophic neurites containing transactive response DNA binding protein. Future studies are needed to explain the wide variation in clinical presentation...
  9. ncbi request reprint Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 121:168-73. 2003
    ..The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality...
  10. pmc Genome-wide association study confirms extant PD risk loci among the Dutch
    Javier Simon-Sanchez
    Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 19:655-61. 2011
    ..22 × 10(-4), OR = 1.51; HLA, rs4248166: P = 4.39 × 10(-5), OR = 1.36; and MAPT, rs3785880: P = 1.9 × 10(-3), OR = 1.19)...
  11. pmc Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations
    Luba Pardo
    Medical Genomics Section, Department of Clinical Genetics, Vrije University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 17:802-10. 2009
    ..This poor concordance in LD block structure suggests that large samples are required for robust estimations of local LD block structure in populations...
  12. pmc A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder
    Eva C Verbeek
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    PLoS ONE 7:e37384. 2012
    ..9E-7 but was not genome wide significant. Although our study did not identify a more strongly associated variant, the results for PCLO suggest that the causal variant is in high LD with rs2715147, rs2715148 and rs2522833...
  13. doi request reprint A Functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly
    Zoltan Bochdanovits
    Department of Clinical Genetics, Section of Medical Genomics, VU Medical Center, Van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands
    Behav Genet 39:15-23. 2009
    ..This result illustrates the relevance of comparative genomics to detect genes that are involved in human behavior...
  14. pmc Resequencing three candidate genes for major depressive disorder in a dutch cohort
    Eva C Verbeek
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    PLoS ONE 8:e79921. 2013
    ....
  15. ncbi request reprint CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
    Patrizia Rizzu
    Department of Human Genetics, Section Medical Genomics, VU University, Amsterdam, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 141:944-6. 2006
    ..Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations...
  16. ncbi request reprint Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease
    Vincenzo Bonifati
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Mol Med (Berl) 82:163-74. 2004
    ..Although much work remains to be done to clarify the biology of DJ-1, its proposed activity as a molecular chaperone and/or as oxidative sensor appear intriguing in the light of the current theories on the pathogenesis of PD...
  17. ncbi request reprint The PCR suite
    Marijke J van Baren
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Bioinformatics 20:591-3. 2004
    ..It allows the design of primer sets encompassing single nucleotide polymorphisms, all exons of a single gene, all open reading frames in a list of cDNAs or the creation of overlapping PCR products...
  18. pmc Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study
    Marieke E Teeuw
    Department of Clinical Genetics, Section Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    BMC Med Genet 11:113. 2010
    ....
  19. doi request reprint The complete automation of cell culture: improvements for high-throughput and high-content screening
    Shushant Jain
    VUMC Clinical Genetics, Amsterdam, The Netherlands
    J Biomol Screen 16:932-9. 2011
    ..The authors demonstrate that such a system is able to successfully maintain different cell lines in culture for extended periods of time as well as significantly increasing throughput, accuracy, and reproducibility of HT and HC screens...
  20. ncbi request reprint Cervical dystonia and genetic common variation in the dopamine pathway
    Justus L Groen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Parkinsonism Relat Disord 19:346-9. 2013
    ..Possibly, risk alleles in this pathway may be rarer than detectable in this study, or might be located in downstream dopamine signaling pathway. Alternatively, found dopamine level changes are secondary to the dystonia disease processes...
  21. pmc Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers
    Luba M Pardo
    Department of Clinical Genetics, Medical Genomics, Free University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 20:956-64. 2012
    ..We concluded that Sardinia is a powerful setting for genetic studies including GWAS and other mapping approaches...
  22. ncbi request reprint Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning
    M Florencia Gosso
    Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands
    Eur J Hum Genet 16:1075-82. 2008
    ..We conclude that the effects of a single polymorphism in a dopaminergic gene on a well-defined cognitive trait may easily remain hidden if the interaction with age and other genes in the pathway are not taken into account...
  23. doi request reprint Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci
    Zoltan Bochdanovits
    Section Medical Genomics, Department of Clinical Genetics, VUMC, Amsterdam, The Netherlands
    Eur J Hum Genet 16:525-9. 2008
    ..On the basis of our results, a safe bet is to use a sample that is 10% larger than otherwise deemed necessary...
  24. ncbi request reprint Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
    Esther van Herpen
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Ann Neurol 54:573-81. 2003
    ..All six tau isoforms were present in soluble brain tau. Recombinant tau proteins with the L315R mutation showed a reduced ability to promote microtubule assembly...
  25. ncbi request reprint The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes
    Maria G Macedo
    Department of Human Genetics, Section Medical Genomics, VU University Medical Center, 1081 BT Amsterdam, The Netherlands
    Hum Mol Genet 12:2807-16. 2003
    ..This rapid turnover and the structural changes of DJ-1L166P mutant protein might be crucial in the disease pathogenesis...
  26. pmc Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability
    Dina Ruano
    Department of Medical Genomics, VU Medical Center, Neuroscience Campus Amsterdam VU University, Amsterdam, The Netherlands
    Am J Hum Genet 86:113-25. 2010
    ..The reported association of synaptic heterotrimeric G proteins with cognitive ability clearly points to a new direction in the study of the genetic basis of cognitive ability...
  27. ncbi request reprint A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Hum Genet 11:409-15. 2003
    ..We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis...
  28. doi request reprint Regional differences in gene expression and promoter usage in aged human brains
    Luba M Pardo
    Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Neurobiol Aging 34:1825-36. 2013
    ..Our study underscores alternative promoter usage as an important mechanism for determining the regional differences in gene expression at old age...
  29. pmc Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
    Florencia M Gosso
    Dept of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands
    BMC Med Genet 8:66. 2007
    ..The aim of this study is the identification of functional (non)coding variants underlying cognitive phenotypic variation...
  30. ncbi request reprint Chasing genes in Alzheimer's and Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 114:413-38. 2004
    ..Their imbricate features point to a spectrum of neurodegeneration (tauopathies, synucleinopathies, amyloidopathies) that need further intense investigation to find the missing links...
  31. ncbi request reprint CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    Annemieke J M H Verkerk
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Genomics 82:1-9. 2003
    ....
  32. pmc Accurate prediction of a minimal region around a genetic association signal that contains the causal variant
    Zoltan Bochdanovits
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 22:238-42. 2014
    ....
  33. ncbi request reprint A double RING-H2 domain in RNF32, a gene expressed during sperm formation
    Marijke J van Baren
    Department of Clinical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Biochem Biophys Res Commun 292:58-65. 2002
    ..RNF32 is expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids, suggesting a possible role in sperm formation...
  34. pmc Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease
    Javier Simon-Sanchez
    Section of Medical Genomics, Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands
    PLoS ONE 7:e28787. 2012
    ..Although there might be other regions of interest apart from chromosome 19p13.3, we lack the power to detect them with this analysis...
  35. ncbi request reprint Mutations in TITF-1 are associated with benign hereditary chorea
    Guido J Breedveld
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Hum Mol Genet 11:971-9. 2002
    ..2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC...
  36. ncbi request reprint Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators
    Hanne Lehn
    Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands
    J Am Acad Child Adolesc Psychiatry 46:83-91. 2007
    ..To study familial and nonfamilial environmental influences on attention problems and attention-deficit/hyperactivity disorder (ADHD) in monozygotic twins discordant and concordant-high and low for these traits...
  37. pmc Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men
    Zoltan Bochdanovits
    Section Medical Genomics, Department of Clinical Genetics, Vrije Universiteit Medisch Centrum VUMC, Amsterdam, The Netherlands
    PLoS ONE 3:e1593. 2008
    ....
  38. doi request reprint From single genes to gene networks: high-throughput-high-content screening for neurological disease
    Shushant Jain
    Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands
    Neuron 68:207-17. 2010
    ..Herein we discuss the potential impact of HT-HC cellular screens on medical neuroscience...
  39. ncbi request reprint Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression
    Eco J C de Geus
    Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
    Biol Psychiatry 61:1062-71. 2007
    ..Current biological psychiatric models assume that genetic and environmental risk factors for anxiety and depression act on the same brain structures...
  40. ncbi request reprint A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands
    Norbert Vaessen
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Diabetes 51:856-9. 2002
    ..Both the 8q and 17q localization are supported by allele-sharing at adjacent markers in affected individuals. Statistical evidence for a conserved ancestral haplotype was found for chromosome 8q24...