List of works by Ben A Oostra

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study

scientific article published on 8 November 2016

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

article

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

scientific article published on 5 March 2018

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

scientific article published on 22 April 2006

A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study

scientific article (publication date: 18 April 2006)

A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions

scientific article published on March 2008

A deletion in DJ-1 and the risk of dementia--a population-based survey.

scientific article published in December 2004

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

scientific article

A fragile balance: FMR1 expression levels

scientific article (publication date: 15 October 2003)

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

scientific article published in The Lancet

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

scientific article published in January 2005

A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology

scientific article

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

scientific article

A genome-wide association study of depressive symptoms

scientific journal article

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

scientific article

A genome-wide association study of optic disc parameters

scientific article

A genome-wide screen for depression in two independent Dutch populations

scientific article published on 8 May 2010

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

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 large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene

scientific article published on 01 November 2007

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

scientific article (publication date: 15 July 2003)

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level

scientific article

A metabolomic profile is associated with the risk of incident coronary heart disease

scientific article published on 4 April 2014

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

scientific article

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

scientific article published on 01 May 2003

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

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

scientific article published on 24 April 2009

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A study of the SORL1 gene in Alzheimer's disease and cognitive function

scientific article published in January 2009

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome

scientific article

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

article

Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives

scientific article published in September 2011

An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses

scientific article published in March 2009

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

scientific article published on 8 October 2014

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

scientific article published on 24 March 2012

Angiotensinogen M235T polymorphism and symptoms of depression in a population-based study and a family-based study

scientific article published in August 2008

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

article

Assessment of gene-by-sex interaction effect on bone mineral density

scientific article (publication date: October 2012)

Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

scientific article published on 23 December 2011

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

scientific article published in March 2002

Association between type 2 diabetes loci and measures of fatness

scientific article

Association of HSP70 and its co-chaperones with Alzheimer's disease

scientific article

Association of adiponectin and leptin with relative telomere length in seven independent cohorts including 11,448 participants

scientific article

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

Association of cognitive functioning with retinal nerve fiber layer thickness.

scientific article

Association of heat shock proteins with Parkinson's disease

scientific article published on 26 November 2011

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

scientific article published on 01 August 2010

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

scientific article published on 11 March 2013

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

scientific article published on 12 January 2007

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia

scientific article

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

scientific article

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

scientific article published on 26 January 2018

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

scientific article published on 27 January 2005

Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development

scientific article

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

Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice

scientific article

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

scientific article

Clinical Implications of Old and New Genes for Open-Angle Glaucoma

article

Clinical features and neuroimaging of PARK7-linked parkinsonism

scientific article (publication date: July 2003)

Clinical features of boys with fragile X premutations and intermediate alleles

scientific article published in August 2003

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

scientific article

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

scientific article

Common DNA variants predict tall stature in Europeans

scientific article published on 20 November 2013

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

scientific article

Common genetic variants associated with open-angle glaucoma

scientific article published on 22 March 2011

Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium

scientific article published on 8 November 2011

Common variants at 12q14 and 12q24 are associated with hippocampal volume

scientific article

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

scientific article

Common variants in Mendelian kidney disease genes and their association with renal function

scientific article published on 12 September 2013

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

scientific article published on 24 October 2008

Complement component C3 and risk of age-related macular degeneration.

scientific article published on 24 January 2009

Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration

scientific article

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants

scientific article

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

scientific article published on March 2006

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

scientific article

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

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

scientific article

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

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

scientific article

Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study.

scientific article

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Disentangling the genetics of lean mass

article

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

scientific article

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

scientific article

Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish

scientific article

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil

scientific article published on 22 November 2005

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

scientific article published on 18 April 2009

Effects of the Renin-Angiotensin System Genes and Salt Sensitivity Genes on Blood Pressure and Atherosclerosis in the Total Population and Patients With Type 2 Diabetes

article

Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome.

scientific article

Epistatic Effect of Cholesteryl Ester Transfer Protein and Hepatic Lipase on Serum High-Density Lipoprotein Cholesterol Levels

scientific article published on 17 April 2007

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

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

article

Evidence of inbreeding depression on human height

scientific article

Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins

scientific article published on 4 May 2006

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.

scientific article published on 22 October 2013

FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy

scientific journal article

FMR1: a gene with three faces

scientific article published on 21 February 2009

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation

scientific article

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands

scientific article published on 9 July 2008

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

scientific article

Fragile X syndrome, the Fragile X related proteins, and animal models

scientific article

Fragile X syndrome: From protein function to therapy.

scientific article

Fragile X-related proteins regulate mammalian circadian behavioral rhythms

scientific article published on 26 June 2008

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

scientific journal article

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

scientific article

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy

scientific article

Gene finding in genetically isolated populations

scientific article

Generation and characterization of FMR1 knockout zebrafish

scientific article

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids

scientific article published on 12 April 2012

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic architecture of circulating lipid levels

scientific article

Genetic architecture of open angle glaucoma and related determinants

scientific article published on 7 November 2010

Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits

scientific article

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

scientific article

Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology

scientific article

Genetic determinants of circulating sphingolipid concentrations in European populations

scientific article published on 02 October 2009

Genetic evidence of assortative mating in humans

article

Genetic factors influence the clustering of depression among individuals with lower socioeconomic status

scientific article

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variants in RBFOX3 are associated with sleep latency

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

scientific journal article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

scientific article

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

scientific article published on 12 May 2013

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

scientific article

Genome-wide association analysis identifies multiple loci related to resting heart rate

scientific article

Genome-wide association and functional follow-up reveals new loci for kidney function

scientific article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

scientific article

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region

scientific article

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

scientific article

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

scientific article published on 22 April 2009

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

scientific article

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

scientific article

Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man.

scientific article

Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium

scientific article

Genomewide association studies of stroke

scientific article published on 15 April 2009

Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study

scientific article

Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval

scientific article

Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes

scientific article published on March 2007

Heritability of dietary food intake patterns

scientific article published on 15 March 2012

High activity of Monoamine oxidase A is associated with externalizing behaviour in maltreated and nonmaltreated adoptees

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

scientific article

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

scientific article

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Identification of a candidate gene for astigmatism

scientific journal article

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

scientific article published on 12 August 2009

Influence of oral contraceptive pills on phenotype expression in women with polycystic ovary syndrome

scientific article published in December 2005

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

scientific article published on 8 September 2012

Interactions between dietary vitamin E intake and SIRT1 genetic variation influence body mass index.

scientific article published on 24 March 2010

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

Knockout mouse model for Fxr2: a model for mental retardation

scientific article published in March 2002

LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition

article

LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample

scientific article published on 05 June 2006

LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate

scientific article published on 24 October 2006

Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study

scientific article

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2

scientific article published on 08 August 2012

Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene

scientific article published on 22 October 2009

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)

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

scientific article published on 01 February 2002

Long-term potentiation in the hippocampus of fragile X knockout mice

Longevity candidate genes and their association with personality traits in the elderly

scientific article

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)

scientific journal article

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

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

Maternal Transmission of Multiple Sclerosis in a Dutch Population

article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

scientific article published on 28 January 2015

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

scientific article

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

scientific article published on 11 September 2011

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

scientific article

Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect

scientific article published on 16 January 2013

Microsatellite repeat instability and neurological disease

scientific article

Migraine is not associated with enhanced atherosclerosis

scientific article published on 12 November 2012

Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels

scientific article

Molecular dissection of the events leading to inactivation of the FMR1 gene

scientific article

Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI

scientific article published on 7 February 2015

Multiple loci are associated with white blood cell phenotypes

scientific article

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

scientific article

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

scientific article

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

scientific article published on 16 February 2012

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

article by Ingrid M B H van de Laar et al published February 2011 in Nature Genetics

Mutations in TITF-1 are associated with benign hereditary chorea

scientific article

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

scientific article

NPHP4 variants are associated with pleiotropic heart malformations

scientific article

NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium

scientific article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

scientific article published on 10 January 2017

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New loci associated with kidney function and chronic kidney disease

scientific article

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease.

scientific article published on 25 January 2010

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

scientific article

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

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

scientific article

Nucleotide excision DNA repair is associated with age-related vascular dysfunction

scientific article

P1-309

PARK6-linked parkinsonism occurs in several European families

scientific article published in January 2002

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

scientific article published on 08 August 2012

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

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

scientific article published in October 2013

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

Phenotypic subtypes in attention deficit hyperactivity disorder in an isolated population

scientific article published on 01 January 2005

Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study

scientific article published on 30 November 2012

Plasma β amyloid and the risk of Alzheimer's disease in Down syndrome.

scientific article published on 29 September 2011

Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred

scientific article published on 01 March 2002

Predicting human height by Victorian and genomic methods

scientific article

Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study

scientific article published on 11 August 2008

Prospects of TAT-mediated protein therapy for fragile X syndrome.

scientific article published in May 2004

Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation

scientific article published on 01 January 2009

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

ROBO2 gene variants are associated with familial vesicoureteral reflux

scientific article published on 30 January 2008

Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish

scientific article published in August 2009

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions

scientific article published on 05 December 2012

Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function.

scientific article published in August 2007

Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis

scientific article

Reply to Stephan et al.

scientific article published on 3 July 2008

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

scientific article

Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant

scientific article

Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease

scientific article published on 13 June 2013

Role of shared genetic and environmental factors in symptoms of depression and body composition

article

SIRT1 genetic variation is related to BMI and risk of obesity

scientific article published on 09 September 2009

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

scientific article published on 3 August 2011

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease

scientific article published on 7 February 2008

Shared genetic factors in the co-occurrence of symptoms of depression and cardiovascular risk factors

scientific article

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

scientific article

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population

scientific article

Survival in elderly persons with Down syndrome

scientific article published in December 2008

Telomere length in circulating leukocytes is associated with lung function and disease.

scientific article published on 5 December 2013

The -Adducin Gene Is Associated With Macrovascular Complications and Mortality in Patients With Type 2 Diabetes

article

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair

scientific article published on 24 July 2006

The Effect of Genetic Drift in a Young Genetically Isolated Population

The Effect of Genetic Drift in a Young Genetically Isolated Population

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome ⬇️

scientific article published on May 1, 2003

The GAB2 gene and the risk of Alzheimer's disease: replication and meta-analysis.

scientific article published on 31 December 2008

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population

scientific article published on 21 August 2008

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

scientific article published on 26 October 2005

The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.

scientific article published on 29 April 2011

The apolipoprotein E gene and its age-specific effects on cognitive function

scientific article

The challenges of genome-wide interaction studies: lessons to learn from the analysis of HDL blood levels

scientific article

The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's disease

scientific article

The cholesteryl ester transfer protein I405V polymorphism is associated with increased high-density lipoprotein levels and decreased risk of myocardial infarction: the Rotterdam Study

scientific article published on 01 June 2007

The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

scientific article (publication date: 7 February 2003)

The fragile X syndrome: from molecular genetics to neurobiology

scientific article published on January 2004

The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes

scientific article published on 01 March 2002

The molecular genetic architecture of self-employment

scientific article

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

The role of body mass index, insulin, and adiponectin in the relation between fat distribution and bone mineral density

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

scientific article

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

scientific article

Timing of the absence of FMR1 expression in full mutation chorionic villi.

scientific article

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

scientific article

Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells

scientific journal article

Transport of fragile X mental retardation protein via granules in neurites of PC12 cells

scientific article

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

scientific article

Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis

scientific article published in January 2005

Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons

scientific article published on 21 May 2009

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