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List of works by Peter Heutink

A Functional polymorphism under positive evolutionary selection in ADRB2 is associated with human intelligence with opposite effects in the young and the elderly

scientific article

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

scientific article published in July 2017

A double RING-H2 domain in RNF32, a gene expressed during sperm formation

scientific article

A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder

scientific article

A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands

scientific article published on March 2002

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population

scientific article

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence.

scientific article published in December 2006

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

scientific article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

scientific article published in March 2002

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant

scientific article published on 5 June 2013

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

An English kindred with a novel recessive tauopathy and respiratory failure

scientific article

An atlas of active enhancers across human cell types and tissues

scientific article

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.

scientific article published in September 2002

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

article

Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight

scientific article published in March 2002

Association of the gene encoding neurogranin with schizophrenia in males

scientific article

Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators

scientific article published on January 2007

Author Correction: Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

scholarly article published in Scientific Data

Benign hereditary chorea: clinical, neuroimaging, and genetic findings

scientific article published in October 2007

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

scientific article

C9orf72; abnormal RNA expression is the key.

scientific article published on 27 May 2014

CHCHD2 and Parkinson's disease.

scientific article published in July 2015

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

scientific article

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning

scientific article published on 2 April 2008

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

scientific article published on 20 October 2016

Cervical dystonia and genetic common variation in the dopamine pathway

scientific article published on 14 September 2012

Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1.

scientific article

Chasing genes in Alzheimer's and Parkinson's disease

scientific article published on 4 March 2004

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

scientific article

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Clinical features and neuroimaging of PARK7-linked parkinsonism

scientific article (publication date: July 2003)

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways

scientific article

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

scientific article published on 10 June 2016

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Construction of a Detailed Physical and Transcript Map of the FTDP-17 Candidate Region on Chromosome 17q21

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

scientific article published on 12 March 2012

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

scientific article

DGEclust: differential expression analysis of clustered count data ⬇️

scientific article

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia

scientific article

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor

scientific article

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

scientific article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

scientific article

Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice

scientific article (publication date: 2003)

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers

scientific article

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

scientific article

Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics

scientific article

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

scientific article

Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease

scientific article published in September 2005

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Empirical assessment of the validity of the 'fundamental theorem of the HapMap' in the light of 'cryptic' tagging of multiple susceptibility loci

scientific article published on 16 January 2008

Establishing the role of rare coding variants in known Parkinson's disease risk loci

scientific article published on 2 August 2017

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

article

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

scientific article published on 13 November 2017

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

scientific article published on 12 March 2013

Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

scientific article

Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis

scientific article published in January 2012

FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain

scientific article

Familial influence on parkinsonism in a rural area of Turkey (Kizilcaboluk-Denizli): a community-based case-control study

scientific article

Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia

scientific article

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

From single genes to gene networks: high-throughput-high-content screening for neurological disease

scientific article published on October 2010

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study

scientific article published on 22 July 2003

Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability

scientific article

Gene finding in genetically isolated populations

scientific article

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia

scientific article published on 5 April 2017

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

scientific article

Genetic comorbidities in Parkinson's disease

scientific article published on 20 September 2013

Genetics of Dizygotic Twinning: A Feasibility Study for a Biobank

article

Genetics of dizygotic twinning: a feasibility study for a biobank

scientific article published in December 2004

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

scientific article published on 05 June 2017

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects

scientific article

Genome-wide association study confirms extant PD risk loci among the Dutch

scientific article

Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men.

scientific article

Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations

scientific article

High content screening in neurodegenerative diseases

scientific article published on 6 January 2012

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

scientific article

Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression

scientific article published on 29 November 2006

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study

scientific article published in March 2010

Is the MC1R variant p.R160W associated with Parkinson's?

scientific article published on 21 September 2015

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

scientific article published in August 2003

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Linkage disequilibrium in young genetically isolated Dutch population

article

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease

scientific article (publication date: March 2004)

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

scientific article published on 2 April 2006

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

scientific article

Mutations in TITF-1 are associated with benign hereditary chorea

scientific article

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

scientific article published on 02 September 2008

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

scientific article

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

scientific article

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

article published in 2006

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Novel parkin mutations detected in patients with early-onset Parkinson's disease

scientific article published in April 2005

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

scientific article

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

scientific article published in October 2013

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

scientific article

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

scientific article published on 30 September 2015

Polygenic risk of Parkinson disease is correlated with disease age at onset

scientific article published on 13 March 2015

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts

scientific article published on 16 June 2017

Profiling transcription initiation in human aged brain using deep-CAGE.

scientific article published on 21 November 2011

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism

scientific article

Resequencing three candidate genes for major depressive disorder in a Dutch cohort

scientific article

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

scientific article published in April 2006

Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder

article

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease

scientific article

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

scientific article published on 22 September 2016

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

scientific article

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease

scientific article published on November 2003

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.

scientific article published on February 2003

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

scientific article published on 2 September 2003

The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo

scientific article published in January 2007

The PCR suite

scientific article

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The complete automation of cell culture: improvements for high-throughput and high-content screening

scientific article

The role of the COMT Val(158)Met polymorphism in the phenotypic expression of obsessive-compulsive disorder.

scientific article

The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD).

scientific article

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

scientific article

Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations

scientific article

Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

scientific article

Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives

scientific article published on January 2010

Transthyretin: no association between serum levels or gene variants and schizophrenia

scientific article published on 22 May 2006

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

scientific article published on 12 February 2009

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

scientific article published on 3 August 2012

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

scientific article published in November 2003

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts

scientific article published on 10 July 2015

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