List of works - Peter Heutink

A promoter-level mammalian expression atlas

scientific article

Somatic retrotransposition alters the genetic landscape of the human brain

scientific article (publication date: 30 October 2011)

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

scientific article published on February 1, 1998

An atlas of human long non-coding RNAs with accurate 5' ends.

scientific article

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

scientific article

Genome-wide association study of obsessive-compulsive disorder.

scientific article

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

scientific article

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

scientific article

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.

scientific article

An integrated expression atlas of miRNAs and their promoters in human and mouse.

scientific article

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

scientific article published on April 1, 1992

Genome-wide association study of Tourette's syndrome

scientific article

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

scientific article published on 18 June 2015

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

scientific article

Familial aggregation of parkinsonism in progressive supranuclear palsy.

scientific article

FANTOM5 CAGE profiles of human and mouse samples

scientific article published on 29 August 2017

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

article

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

scientific article published on 07 April 2019

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

scientific article published on 01 February 2002

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

scientific article published on 25 March 2013

Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder

scientific article published on 01 July 2009

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

scientific article

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

scientific article

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

article

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

scientific article published on 16 October 2007

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

scientific article

Population and genomic lessons from genetic analysis of two Indian populations.

scientific article published in July 2014

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

scientific article published on 17 September 2018

Regional differences in gene expression and promoter usage in aged human brains.

scientific article

A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands

article

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

scientific article published on 01 June 2015

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Brain-specific noncoding RNAs are likely to originate in repeats and may play a role in up-regulating genes in cis.

scientific article published on 30 June 2014

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

scientific article published on 09 July 2019

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

scientific article

Brachydactyly and short stature in a kindred with early-onset parkinsonism

scientific article published on 01 September 2004

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

scientific article published on 01 January 2020

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

scientific article published in March 2018

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

scientific article published on 28 July 2016

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

scientific article published on 3 March 2016

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

scientific article published on 01 May 2003

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

scientific article published on 24 December 2014

Neurodegeneration: new road leads back to the synapse.

scientific article

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.

scientific article published on 28 July 2012

Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

scientific article published on 7 September 2010

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

scientific article published on 10 September 2019

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

scientific article published on 04 January 2019

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.

scientific article

A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort.

scientific article

List of works by Peter Heutink

A promoter-level mammalian expression atlas

Somatic retrotransposition alters the genetic landscape of the human brain

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

An atlas of human long non-coding RNAs with accurate 5' ends.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Genome-wide association study of obsessive-compulsive disorder.

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.

An integrated expression atlas of miRNAs and their promoters in human and mouse.

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

Genome-wide association study of Tourette's syndrome

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

Familial aggregation of parkinsonism in progressive supranuclear palsy.

FANTOM5 CAGE profiles of human and mouse samples

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

Population and genomic lessons from genetic analysis of two Indian populations.

Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease

Regional differences in gene expression and promoter usage in aged human brains.

A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Brain-specific noncoding RNAs are likely to originate in repeats and may play a role in up-regulating genes in cis.

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Brachydactyly and short stature in a kindred with early-onset parkinsonism

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

Neurodegeneration: new road leads back to the synapse.

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.

Analysis of variation in the melanocortin-4 receptor gene (mc4r) in golden retriever dogs

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.

A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort.