List of works by Cisca Wijmenga

"Coelionomics": towards understanding the molecular pathology of coeliac disease

scientific article

17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium

article

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans.

scientific article published on November 2016

A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome

article

A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency

scientific article published on 29 July 2016

A Genome-Wide Functional Genomics Approach Identifies Susceptibility Pathways to Fungal Bloodstream Infection in Humans

scientific article published on 01 July 2019

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis ⬇️

scientific article published on 21 December 2016

A System Biology Perspective on Environment-Host-Microbe Interactions.

scientific article published on 16 April 2018

A combined genetics and genomics approach to unravelling molecular pathways in coeliac disease

scientific article published on 01 January 2005

A comparison of genetic chromosomal loci for intracranial, thoracic aortic, and abdominal aortic aneurysms in search of common genetic risk factors

scientific article published on 24 July 2007

A functional candidate screen for coeliac disease genes

scientific article

A genetic perspective on coeliac disease

scientific article published on 12 October 2010

A genome scan for loci linked to quantitative insulin traits in persons without diabetes: the Framingham Offspring Study

scientific article published on 24 October 2003

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 for celiac disease identifies risk variants in the region harboring IL2 and IL21

scientific article

A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides

scientific article

A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes

scientific article published in 2022

A genome-wide scan in type 2 diabetes mellitus provides independent replication of a susceptibility locus on 18p11 and suggests the existence of novel Loci on 2q12 and 19q13.

scientific article published in May 2003

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 genomewide screen in a four-generation Dutch family with celiac disease: evidence for linkage to chromosomes 6 and 9.

scientific article

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A large candidate-gene association study suggests genetic variants at IRF5 and PRDM1 to be associated with aggressive periodontitis

scientific article published on 15 November 2014

A large variety of clinical features and concomitant disorders in celiac disease - A cohort study in the Netherlands

scientific article published on 18 January 2016

A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility ⬇️

scientific article

A liver-specific long noncoding RNA with a role in cell viability is elevated in human nonalcoholic steatohepatitis.

scientific article published on 10 January 2017

A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease

A major non-HLA locus in celiac disease maps to chromosome 19

scientific article (publication date: October 2003)

A major non-HLA locus in celiac disease maps to chromosome 191 1This study is dedicated to the memory of Lodewijk Sandkuijl (1953–2002), who died shortly after its completion. He was an inspiration to us and was a world expert on biostatistics

scientific article (publication date: October 2003)

A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease

scientific journal article

A microarray screen for novel candidate genes in coeliac disease pathogenesis

scientific article published on July 2004

A novel biomarker panel for irritable bowel syndrome and the application in the general population

scientific article published on 06 June 2016

A novel role for XIAP in copper homeostasis through regulation of MURR1

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A strategy to search for common obesity and type 2 diabetes genes

scientific article published on 28 November 2006

A supersized list of obesity genes

article

A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.

scientific article published on 30 January 2018

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis

scientific article published on 01 June 2019

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

scientific article (publication date: June 2007)

A variant in LDLR is associated with abdominal aortic aneurysm

scientific journal article

ATG16L1andIL23RAre Associated With Inflammatory Bowel Diseases but Not With Celiac Disease in The Netherlands

article

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

scientific article published in December 2016

Age at natural menopause is not linked with the follicle-stimulating hormone receptor region: a sib-pair study

scientific article published in March 2004

Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms

scientific article published on 22 September 2016

Allele and haplotype frequencies for HLA-DQ in Iranian celiac disease patients

scientific article

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

scientific article

An epigenome-wide association study meta-analysis of educational attainment.

scientific article

An integrative genomics approach identifies KDM4 as a modulator of trained immunity

scientific article published in 2021

An integrative genomics approach identifies novel pathways that influence candidaemia susceptibility

scientific article

Analysis of 1135 gut metagenomes identifies sex-specific resistome profiles

scientific article published on 29 October 2018

Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease

scientific article

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

scientific article

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

scientific article published in August 1994

Anti-inflammatory Gut Microbial Pathways Are Decreased During Crohn's Disease Exacerbations

scientific article published on 01 October 2019

Anticipation and phenotype in familial intracranial aneurysms

scientific article

Anticipation in familial intracranial aneurysms in consecutive generations.

scientific article

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

scientific article published in August 2012

Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility

article

Apple or pear: size and shape matter

scientific article published in April 2015

Association Analysis of Genes Involved in the Maintenance of the Integrity of the Extracellular Matrix with Intracranial Aneurysms in a Japanese Cohort

article

Association Study of Single Nucleotide Polymorphisms on Chromosome 19q13 With Abdominal Aortic Aneurysm

scientific article published on 14 February 2010

Association analysis of MYO9B gene polymorphisms and inflammatory bowel disease in a Norwegian cohort

article

Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort

scientific article (publication date: 2006)

Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes

scientific article

Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis.

scientific article published on 25 July 2007

Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis

scientific article

Association analysis of myosin IXB and type 1 diabetes

scientific article published in April 2010

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of Crohn's disease-associated NOD2 variants with intestinal failure requiring small bowel transplantation and clinical outcomes.

scientific article

Association of DLG5 variants with gluten-sensitive enteropathy

article published in 2008

Association of FcgR2a, but not FcgR3a, with inflammatory bowel diseases across three Caucasian populations†

scientific article published on 1 December 2010

Association of Variants inIL2RAWith Progression of Joint Destruction in Rheumatoid Arthritis

scientific article published on 01 July 2013

Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage.

scientific article published on 5 August 2004

Association of the Jun dimerization protein 2 gene with intracranial aneurysms in Japanese and Korean cohorts as compared to a Dutch cohort

scientific article

Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

scientific article

Association of the protein-tyrosine phosphatase nonreceptor type substrate 1 (PTPNS1) gene with inflammatory bowel disease

scientific article

Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort

article by J. V. van Vliet-Ostaptchouk et al published 10 October 2006 in Diabetologia

Association ofSTAT4with rheumatoid arthritis: A replication study in three European populations

scientific article published on 01 July 2008

Association study of the IL18RAP locus in three European populations with coeliac disease

scientific article published on 22 December 2008

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis

scientific article published on 7 November 2007

Author Correction: Gut microbiome structure and metabolic activity in inflammatory bowel disease

scientific article published on 01 May 2019

Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

scholarly article published in Nature Genetics

Autoimmune Disease in First-Degree Relatives and Spouses of Individuals With Celiac Disease

scientific article published on 31 January 2015

Autophagy controls BCG-induced trained immunity and the response to intravesical BCG therapy for bladder cancer

scientific article

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

scientific article published in Nature Communications

BCG Vaccination Protects against Experimental Viral Infection in Humans through the Induction of Cytokines Associated with Trained Immunity

scientific article published in January 2018

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

scientific article

Blood lipids influence DNA methylation in circulating cells

scientific article published on 27 June 2016

C-Reactive Protein Is Independently Associated With Glucose but Not With Insulin Resistance in Healthy Men

scholarly article by A. G. Niehoff et al published 19 March 2007 in Diabetes Care

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

scientific article published on 24 July 2007

COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.

scientific article

COMMD1 disrupts HIF-1alpha/beta dimerization and inhibits human tumor cell invasion

scientific article

COMMD1: a novel protein involved in the proteolysis of proteins.

scientific article published on 22 June 2007

CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients

scientific article published in September 2004

CTLA4 is differentially associated with autoimmune diseases in the Dutch population

CTLA4 is differently associated with autoimmune diseases in the Dutch population

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

scientific article

Candida albicans infection affords protection against reinfection via functional reprogramming of monocytes.

scientific article published on August 2012

Card9 mediates intestinal epithelial cell restitution, T-helper 17 responses, and control of bacterial infection in mice

scientific article published on 31 May 2013

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

scientific article published on 18 February 2019

Celiac disease genetics: past, present and future challenges

scientific article published on July 2014

Celiac disease-on-chip: Modeling a multifactorial disease in vitro

scientific article published on 14 March 2019

Celiac disease: moving from genetic associations to causal variants

scientific article published on 13 June 2011

Celiac disease: past, present, and future challenges: dedicated to the memory of our friend and colleague, Prof David Branski (1944-2013).

scientific article

Celiac disease: update from the 14th International Celiac Disease Symposium 2011.

scientific article published in December 2011

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

Changes in gene expression caused by insect venom immunotherapy responsible for the long-term protection of insect venom-allergic patients

scientific article published on 16 February 2011

Characteristics of de novo structural changes in the human genome

scientific article

Characterization and chromosomal localization of five canine ATOX1 pseudogenes

scientific article

Characterization of COMMD protein-protein interactions in NF-kappaB signalling

scientific article

Characterization of gut microbial structural variations as determinants of human bile acid metabolism

scientific article published in 2021

Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.

scientific article

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

scientific article (publication date: September 1992)

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

article

Chronic Inflammation Permanently Reshapes Tissue-Resident Immunity in Celiac Disease

scientific article published on 07 February 2019

Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients

scientific article

Circulating miRNAs as Potential Biomarkers for Celiac Disease Development

scientific article published on 07 December 2021

Clinical implications of shared genetics and pathogenesis in autoimmune diseases

scientific article

Co-expressed immune and metabolic genes in visceral and subcutaneous adipose tissue from severely obese individuals are associated with plasma HDL and glucose levels: a microarray study

scientific article

Coeliac disease and autoimmune disease-genetic overlap and screening

scientific article

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

scientific article (publication date: August 2009)

Cohort Profile: LifeLines, a three-generation cohort study and biobank

scientific article published on 14 December 2014

Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics

scientific article

Comment on: Barker et al. (2008) Two Single Nucleotide Polymorphisms Identify the Highest-Risk Diabetes HLA Genotype: Diabetes 57:3152-3155, 2008

Comment on: Perry et al. (2009) interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes;58:1463-1467.

scientific article published in September 2009

Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model

article

Common and different genetic background for rheumatoid arthritis and coeliac disease

scientific article published on 31 July 2009

Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis

scientific article

Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.

scientific article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

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

scientific article

Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia.

scientific article

Common variants in the type 2 diabetes KCNQ1 gene are associated with impairments in insulin secretion during hyperglycaemic glucose clamp

scientific article (publication date: 2012)

Complex nature of SNP genotype effects on gene expression in primary human leucocytes

scientific article

Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene

scientific article

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

scientific article

Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort

scientific article published on 27 January 2009

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

article

Context-specific effects of genetic variants associated with autoimmune disease

scientific article published in October 2017

Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity

scientific article

Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-like receptors

scientific article published on 03 February 2014

Copper metabolism domain-containing 1 represses genes that promote inflammation and protects mice from colitis and colitis-associated cancer

scientific article

Copy number variants on the X chromosome in women with primary ovarian insufficiency

scientific article published on 12 February 2011

Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells

scientific article published on February 1996

Correction: Common Variants in the Type 2 Diabetes KCNQ1 Gene Are Associated with Impairments in Insulin Secretion During Hyperglycaemic Glucose Clamp

scientific article published on 13 June 2012

Correction: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts

Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms.

scientific article published on 15 May 2009

Correlation of genetic risk and messenger RNA expression in a Th17/IL23 pathway analysis in inflammatory bowel disease

scientific article published in May 2014

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations

article

Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1.

scientific article published on July 2010

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

scientific article published on 26 February 2018

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

scientific article published on 12 June 2020

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts

scientific article

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

scientific article

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

scientific article (publication date: May 2004)

Defining the genetic contribution of type 2 diabetes mellitus

scientific article

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

scientific article

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

scientific article

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Detecting shared pathogenesis from the shared genetics of immune-related diseases

scientific article published on January 2009

Detection of stable community structures within gut microbiota co-occurrence networks from different human populations

scientific article published on 7 February 2018

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

scientific article published on June 2008

Determining the association between adipokine expression in multiple tissues and phenotypic features of non-alcoholic fatty liver disease in obesity

scientific article

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

scientific article

Dietary patterns and the risk of type 2 diabetes in overweight and obese individuals

scientific article published on 28 July 2012

Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease

scientific article published on December 2009

Differential Effects of Environmental and Genetic Factors on T and B Cell Immune Traits

scientific article

Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population

scientific article

Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis

scientific article published in February 2011

Differential association of two PTPN22 coding variants with Crohn’s disease and ulcerative colitis

scientific article published on 25 November 2010

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery, diversity, and functional associations of crAss-like phages in human gut metagenomes from four Dutch cohorts

scientific article published on 11 January 2022

Disease variants alter transcription factor levels and methylation of their binding sites

scientific article published on 5 December 2016

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

scientific article

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

scientific article

Dutch government invests in existing biobanks

scientific article published on January 1, 2010

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations

scientific article published in August 2001

Dysbiosis of the buccal mucosa microbiome in primary Sjögren's syndrome patients

scientific article published on 01 December 2018

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Early onset facioscapulohumeral muscular dystrophy

scientific article published on 01 January 1995

Early onset facioscapulohumeral muscular dystrophy

scientific article published in January 1995

Early prenatal diagnosis of the ICF syndrome

scientific article published on 01 October 2000

Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms

scientific article

Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes

scientific article published on 7 February 2012

Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease

scientific article

Environment dominates over host genetics in shaping human gut microbiota

scientific article published in Nature

Eosinophil Count Is a Common Factor for Complex Metabolic and Pulmonary Traits and Diseases: The LifeLines Cohort Study

scientific article

Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity.

scientific article published on September 2014

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

Erratum: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

article

Erratum: Corrigendum: Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

scholarly article published in The American Journal of Gastroenterology

Erratum: Corrigendum: Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

article

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

article

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Erratum: Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research

scientific article published on 01 April 2010

Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.

scientific article published in November 2000

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

scientific article

Evaluation of European coeliac disease risk variants in a north Indian population

scientific article

Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms

article

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

scientific article

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

scientific article

Exome sequencing in a family segregating for celiac disease

scientific article

Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

scientific article published on 19 August 2010

Expressing the differences between Crohn disease and ulcerative colitis

scientific article

Expression profiles of long non-coding RNAs located in autoimmune disease-associated regions reveal immune cell-type specificity

scientific article published on 28 October 2014

Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

scientific article

Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5

article

Facioscapulohumeral muscular dystrophy in early childhood

scientific article published on April 1994

Facioscapulohumeral muscular dystrophy in the Dutch population

scientific article published on 01 January 1995

Facioscapulohumeral muscular dystrophy in the Dutch population

scientific article published in January 1995

Facioscapulohumeral muscular dystrophy: the impact of genetic research

scientific article published on March 1993

Factors that influence the volatile organic compound content in human breath.

scientific article published on 31 January 2017

Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11.

scientific article published in November 1996

Familial intracranial aneurysms

scientific article published on 12 February 2004

Family matters: gene regulation by metal-dependent transcription factors

article

Farnesoid X receptor (FXR) activation and FXR genetic variation in inflammatory bowel disease

scientific article

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

scientific article published on 20 April 2015

Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

scientific article published on October 1993

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

scientific article

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35

scientific article published on 01 January 1995

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35

scientific article published in January 1995

From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases

scientific article

Functional Annotation of Genetic Loci Associated With Sepsis Prioritizes Immune and Endothelial Cell Pathways

scientific article published on 14 August 2019

Functional and Genomic Architecture of Borrelia burgdorferi-Induced Cytokine Responses in Humans.

scientific article published on November 2016

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease

scientific article

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

scientific article published on January 2013

Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis

scientific article published on 5 November 2015

Functional polymorphism in IL12B promoter site is associated with ulcerative colitis

scientific article published on 23 February 2011

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

scientific article published on 16 January 2017

GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases

scientific article

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

scientific article published on 31 October 2019

Gene expression analysis identifies global gene dosage sensitivity in cancer.

scientific article published on 12 January 2015

Gene expression analysis in predicting the effectiveness of insect venom immunotherapy.

scientific article published on 23 March 2010

Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis.

scientific article published on 08 December 2010

Gene expression profiling and phenotype analyses of S. cerevisiae in response to changing copper reveals six genes with new roles in copper and iron metabolism

scientific article

Gene expression profiling of liver cells after copper overload in vivo and in vitro reveals new copper-regulated genes

scientific article published on 9 January 2007

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

scientific article

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia

scientific article

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Gene-network analysis identifies susceptibility genes related to glycobiology in autism

scientific article

Genes and outcome after aneurysmal subarachnoid haemorrhage

article

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

scientific article

Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding

scientific article

Genes involved in the transforming growth factor beta signalling pathway and the risk of intracranial aneurysms

scientific article published in June 2008

Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk

scientific article

Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

scientific article published on 24 April 2008

Genetic and Microbial Associations to Plasma and Fecal Bile Acids in Obesity Relate to Plasma Lipids and Liver Fat Content

scientific article published on 01 October 2020

Genetic and epigenetic regulation of gene expression in fetal and adult human livers

scientific article

Genetic and functional analysis of pyroglutamyl-peptidase I in coeliac disease.

scientific article

Genetic and microbial factors modulating the ubiquitin proteasome system in inflammatory bowel disease

scientific article published on 03 October 2013

Genetic association of a gain of function interferon gamma receptor 1 (IFNGR1) polymorphism and the intergenic region LNCAROD/DKK1 with Behçet's disease

scientific article published on 04 January 2021

Genetic background of celiac disease and its clinical implications

scientific article published on January 2008

Genetic background of diabetes mellitus type 2

scientific article published in January 2009

Genetic evidence for PLASMINOGEN as a shared genetic risk factor of coronary artery disease and periodontitis

scientific article published on 2 December 2014

Genetic evidence of assortative mating in humans

article

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter ⬇️

scientific article published on August 1, 1992

Genetic mapping of facioscapulohumeral muscular dystrophy

scientific article published on January 1993

Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.

scientific article published in March 1999

Genetic studies to identify genes underlying menopausal age.

scientific article

Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes

scientific article (publication date: April 2009)

Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis

scientific article published on 6 February 2009

Genetic variants of RANTES are associated with serum RANTES level and protection for type 1 diabetes

article

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

scientific article published on 16 December 2007

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

scientific article

Genetic variation in Toll-like receptors and disease susceptibility

scientific article

Genetic variation in myosin IXB is associated with ulcerative colitis

scientific article

Genetic variation in the hypothalamic pathways and its role on obesity

scientific article published on 05 June 2009

Genetic variations in regulatory pathways of fatty acid and glucose metabolism are associated with obesity phenotypes: a population-based cohort study

scientific article published on 4 August 2009

Genetic, parental and lifestyle factors influence telomere length

scientific article published on 09 June 2022

Genetics in coeliac disease.

scientific article

Genetics of celiac disease

scientific article published on 08 May 2015

Genetics of immune-mediated disorders: from genome-wide association to molecular mechanism

scientific article published on 14 October 2014

Genetics of intracranial aneurysms

scientific article

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

scientific article

Genome-Wide Association Study Identifies Novel Colony Stimulating Factor 1 Locus Conferring Susceptibility to Cryptococcosis in Human Immunodeficiency Virus-Infected South Africans

scientific article published on 16 October 2020

Genome-Wide Association Study Identifies Variants Associated With Autoimmune Hepatitis Type 1

article

Genome-wide Analysis of STAT3-Mediated Transcription during Early Human Th17 Cell Differentiation.

scientific article published in May 2017

Genome-wide analysis shows no genomic predictors of ovarian response to stimulation by exogenous FSH for IVF.

scientific article published on 23 December 2010

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention ⬇️

scientific article published on 7 September 2022

Genome-wide association analysis identifies six new loci associated with forced vital capacity

scientific article

Genome-wide association analysis in primary sclerosing cholangitis

scientific article

Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4

scientific journal article

Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

scientific journal article

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

scientific article

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.

scientific article published on 9 June 2009

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

scientific article

Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction

scientific journal article

Genome-wide association study of intracranial aneurysm identifies three new risk loci

scientific article

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

scientific article

Genome-wide identification of directed gene networks using large-scale population genomics data

scientific article published in Nature Communications

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

scientific article

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

scientific article

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

scientific article published on 20 December 2018

Genome-wide patterns and properties of de novo mutations in humans

scientific article published on 18 May 2015

Genome-wide screen in obese pedigrees with type 2 diabetes mellitus from a defined Dutch population

scientific article published on 01 December 2003

Genomewide Linkage in a Large Dutch Family With Intracranial Aneurysms

Genomic Assessment of Inflammatory Bowel Disease

Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

scientific article published in January 1999

Global phylogeography and ancient evolution of the widespread human gut virus crAssphage

scientific article published on 08 July 2019

Global transcriptional responses of fission and budding yeast to changes in copper and iron levels: a comparative study.

scientific article

Gluten: a two-edged sword. Immunopathogenesis of celiac disease

scientific article

Gut Microbial Associations to Plasma Metabolites Linked to Cardiovascular Phenotypes and Risk

scientific article published on 11 April 2019

Gut microbial co-abundance networks show specificity in inflammatory bowel disease and obesity

scientific article published on 11 August 2020

Gut microbiome structure and metabolic activity in inflammatory bowel disease

scientific article published on 10 December 2018

Gut microbiota composition and functional changes in inflammatory bowel disease and irritable bowel syndrome

scientific article published on 01 December 2018

Gut microbiota composition associated with stool consistency.

scientific article published on 14 August 2015

HGV2012: leveraging next-generation technology and large datasets to advance disease research

scientific article published on April 2013

HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort

article

HLA and Non-HLA Genes in Celiac Disease

article

HLA-DRB1*03:01 and HLA-DRB1*04:01 modify the presentation and outcome in autoimmune hepatitis type-1.

scientific article published on 22 January 2015

HNF4α and CDH1 are associated with ulcerative colitis in a Dutch cohort

scholarly article by Suzanne van Sommeren et al published August 2011 in Inflammatory Bowel Diseases

Habitual diet and diet quality in Irritable Bowel Syndrome: A case-control study.

scientific article published on 17 July 2017

Habitual dietary intake of IBD patients differs from population controls: a case-control study

scientific article published on 24 April 2020

Haplotype-based analysis of ulcerative colitis risk loci identifies both IL2 and IL21 as susceptibility genes in Han Chinese

scientific article

Heritability of non-HLA genetics in coeliac disease: a population-based study in 107 000 twins

scientific article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays.

scientific article

Host Genetics and Gut Microbiome: Challenges and Perspectives

scientific article

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Human dectin-1 deficiency and mucocutaneous fungal infections

scientific article

Human disease-associated genetic variation impacts large intergenic non-coding RNA expression

scientific article

IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease

article

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

scientific journal article

Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

scientific article

Identification of TUB as a novel candidate gene influencing body weight in humans.

scientific article

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

scientific article (publication date: 15 January 2002)

Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter ⬇️

scientific article published on April 10, 1995

Identification of context-dependent expression quantitative trait loci in whole blood

scientific article published on 5 December 2016

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

scientific article published on 14 April 2013

Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease

Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells

scientific article published on June 1996

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.

scientific article published on 08 September 2014

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis

scientific article published on January 2014

Immunochip analysis identifies novel susceptibility loci in the human leukocyte antigen region for acquired thrombotic thrombocytopenic purpura

scientific article published on 20 October 2016

Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease

scientific article published on 07 October 2019

Impact of commonly used drugs on the composition and metabolic function of the gut microbiota

scientific article published on 17 January 2020

Impact of global Fxr deficiency on experimental acute pancreatitis and genetic variation in the FXR locus in human acute pancreatitis

scientific article

Impact of intermediate hyperglycaemia as well as diabetes on immune dysfunction in tuberculosis

scientific article published on 13 June 2020

Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families

scientific article

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

scientific article published on 4 June 2014

Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations

scientific article

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

scientific article published on 23 May 2013

Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers

scientific article published on 8 November 2013

Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice

scientific journal article

Indirect Molecular Diagnosis of Copper Toxicosis in Bedlington Terriers Is Complicated by Haplotype Diversity

scientific article published on 01 May 2003

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Inflammatory Bowel Disease

Inflammatory Bowel Disease

Inflammatory Protein Profiles in Plasma of Candidaemia Patients and the Contribution of Host Genetics to Their Variability

scientific article published on 26 August 2021

Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targets

scientific article published on June 2009

Innate immune activity is detected prior to seroconversion in children with HLA-conferred type 1 diabetes susceptibility

scientific article published on 18 February 2014

Integrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy

scientific article published on 18 June 2015

Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

scientific article published on 06 July 2021

Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses

scientific article published on 21 May 2018

Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

scientific article published on 4 July 2016

Interplay between genetics and the environment in the development of celiac disease: perspectives for a healthy life.

scientific article

Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease

scientific article published on 8 October 2016

Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability

article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

Is MYO9B the missing link between schizophrenia and celiac disease?

Isochromosome 1q as the Sole Chromosomal Abnormality in Two Fetal Teratomas

article

Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes

scientific article published on 08 June 2020

Lack of association between VEGF polymorphisms and ALS in a Dutch population

article published in 2005

Lack of association between genetic variants at ACE2 and TMPRSS2 genes involved in SARS-CoV-2 infection and human quantitative phenotypes

scientific article published on 26 April 2020

Lack of association of MYO9B genetic variants with coeliac disease in a British cohort

scientific article published on 19 January 2006

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale plasma metabolome analysis reveals alterations in HDL metabolism in migraine

scientific article published on 03 April 2019

Leukocyte-Released Mediators in Response to Both Bacterial and Fungal Infections Trigger IFN Pathways, Independent of IL-1 and TNF-α, in Endothelial Cells

scientific article published on 25 October 2019

Lifelines NEXT: a prospective birth cohort adding the next generation to the three-generation Lifelines cohort study

scientific article published on 25 February 2020

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

scientific article published in January 2006

Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age.

scientific article

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

scientific article published on 01 July 1993

Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

scientific article published on 12 May 2007

Linking the Human Gut Microbiome to Inflammatory Cytokine Production Capacity ⬇️

scientific article

Linking the Human Gut Microbiome to Inflammatory Cytokine Production Capacity

scientific article published on 01 December 2016

Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation

scientific article

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

scientific article

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

scientific article

Loci influencing blood pressure identified using a cardiovascular gene-centric array

scientific article published on 8 January 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

scientific article

Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002).

scientific article published in April 2003

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

scientific article

Low fertility and the risk of type 2 diabetes in women

scientific article published on 16 October 2011

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

scientific article

MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes: An association and meta-analysis

article

MYO9B gene polymorphisms are associated with autoimmune diseases in Spanish population

article

Maintenance of macrophage transcriptional programs and intestinal homeostasis by epigenetic reader SP140

scientific article published on 3 March 2017

Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis

scientific article

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

scientific article published on April 1991

Mapping of immune-mediated disease genes.

scientific article published on 03 July 2013

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

article

MeDALL (Mechanisms of the Development of ALLergy): an integrated approach from phenotypes to systems medicine.

scientific article published on 24 January 2011

Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids

scientific article published on 01 October 2020

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

scientific article

Meta-Analysis of Genome-wide Linkage Studies in BMI and Obesity*

article

Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research

scientific article published on 16 July 2009

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations

scientific article published on 20 December 2018

Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci

scientific journal article

Meta-analysis of genome-wide linkage studies in celiac disease

scientific article published on 22 July 2009

Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative.

scientific article

Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease

scientific article published on 14 August 2020

Microbial Impact on Plasma Metabolites is Linked to the Cardiovascular Risk and Phenotypes

scientific article published in 2018

MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects

scientific article published on 7 June 2011

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

scientific article published on 01 July 1993

Molecular diagnosis of celiac disease: are we there yet?

scientific article published on April 2008

Molecular genetics of facioscapulohumeral muscular dystrophy

scientific article published on September 1993

Molecular mechanisms of the adaptive, innate and regulatory immune responses in the intestinal mucosa of celiac disease patients

scientific article

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

scientific article

Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia.

scientific article

Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort

Molecular regulation of copper excretion in the liver

scientific article published on February 2004

Multi-ethnic studies in complex traits

scientific article published on 02 September 2011

Multiple common variants for celiac disease influencing immune gene expression

scientific article

Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations

scientific article

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

scientific article

Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis

scientific article

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

scientific article

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

scientific article published in December 2012

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

article

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

scientific article

Neutrophil Recruitment and Barrier Impairment in Celiac Disease: A Genomic Study

article published in 2007

Newly identified genetic risk variants for celiac disease related to the immune response

scientific article

No association between gluten sensitivity and amyotrophic lateral sclerosis

scientific article published on 06 February 2017

No association of PTPN1 polymorphisms with macronutrient intake and measures of adiposity

scientific article

No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study

scientific article published in May 2008

No genetic association of the human prolyl endopeptidase gene in the Dutch celiac disease population

scientific article published on 12 May 2005

Non-Indian childhood cirrhosis

scientific article

Non-classical clinical presentation at diagnosis by male celiac disease patients of older age

scientific article published on 17 November 2020

Novel Susceptibility Loci for Primary Sclerosing Cholangitis Identified by Genome-Wide Association and Replication Analysis

scientific article published in 2011

Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases

scientific article published on 24 October 2007

Novel childhood asthma genes interact with in utero and early-life tobacco smoke exposure

scientific article published on 6 December 2013

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

Nuclear-cytosolic transport of COMMD1 regulates NF-kappaB and HIF-1 activity

scientific article published on 11 February 2009

OR7-002 – Pyrin 577 mutations in dominant autoinflammation.

scientific article

Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference

scientific article

Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

scientific article published in 2022

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

scientific article published on 01 January 1995

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

scientific article published in January 1995

PTPN1 polymorphisms are associated with total and low-density lipoprotein cholesterol

scientific article published in February 2010

Pharmacomicrobiomics: a novel route towards personalized medicine?

scientific article

Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region

scientific article published on 01 October 1993

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Pleiotropic effects of lipid genes on plasma glucose, HbA1c, and HOMA-IR levels

scientific article published on 10 April 2014

Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite

scientific article

Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus ⬇️

scientific article

Polymorphisms of the TUB gene are associated with body composition and eating behavior in middle-aged women.

scientific article

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2

scientific article

Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity

scientific article

Population-level analysis of gut microbiome variation

scientific article published on 28 April 2016

Population-specific genotype imputations using minimac or IMPUTE2.

scientific article published on 30 July 2015

Potential impact of celiac disease genetic risk factors on T cell receptor signaling in gluten-specific CD4+ T cells

scientific article published on 29 April 2021

Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study

scientific article published on 21 December 2020

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23.

scientific article published in November 2010

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

scientific article

Profile of volatile organic compounds in exhaled breath changes as a result of gluten-free diet

article

Prokaryotic diversity of the Saccharomyces cerevisiae Atx1p-mediated copper pathway

scientific article published on 14 May 2004

Proton pump inhibitors affect the gut microbiome

scientific article published on 9 December 2015

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions

scientific article published in January 1994

Randomized feeding intervention in infants at high risk for celiac disease

scientific article

Rapid Targeted Genomics in Critically Ill Newborns.

scientific article published on 22 September 2017

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

scientific article published on 25 April 2006

Refined genetic and comparative physical mapping of the canine copper toxicosis locus

scientific article published on 01 June 2000

Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs

scientific article

Relationship between gut microbiota and circulating metabolites in population-based cohorts

scientific article published on 20 December 2019

Relationship of beta2-adrenergic receptor polymorphism with obesity in type 2 diabetes

scientific article published on 01 January 2003

Relevance of animal models for understanding mammalian copper homeostasis

scientific article published on September 2008

Reliable High-Throughput Genotyping and Loss-of-Heterozygosity Detection in Formalin-Fixed, Paraffin-Embedded Tumors Using Single Nucleotide Polymorphism Arrays

scientific article published on 01 November 2005

Rewiring cellular metabolism via the AKT/mTOR pathway contributes to host defence against Mycobacterium tuberculosis in human and murine cells

scientific article published on 14 September 2016

SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects

scientific article published in PLoS ONE

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

scientific article published on 01 January 1995

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

scientific article published in January 1995

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

article

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

scientific article published on 5 October 2008

Shared DNA methylation signatures in childhood allergy: the MeDALL study

scientific article published on 15 December 2020

Shared and distinct genetic variants in type 1 diabetes and celiac disease

scientific article

Shared genetics in coeliac disease and other immune-mediated diseases

scientific article published on June 2011

Shared gut, but distinct oral microbiota composition in primary Sjögren's syndrome and systemic lupus erythematosus

article

Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells From Pediatric Coeliac Disease Patients Suggests Potential Pre-Seroconversion Markers

scientific article published on 15 March 2022

Single-cell RNA Sequencing of Blood and Ileal T cells From Patients With Crohn's Disease Reveals Tissue-specific Characteristics and Drug Targets

scientific article published on 02 November 2018

Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.

scientific article

Structural variation in the gut microbiome associates with host health

scientific article published on 27 March 2019

Studying the gut virome in the metagenomic era: challenges and perspectives

scientific article published on 28 October 2019

Susceptibility loci for intracranial aneurysm in European and Japanese populations

scientific article

Systematic Prioritization of Candidate Genes in Disease Loci Identifies <i>TRAFD1</i> as a Master Regulator of IFNγ Signaling in Celiac Disease

scientific article published on 01 January 2020

Systematic analysis of relationships between plasma branched-chain amino acid concentrations and cardiometabolic parameters: an association and Mendelian randomization study

scientific article published in 2022

Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels

scientific article published on 4 September 2014

Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism

scientific article

Systematic review with meta-analysis: the risks of proton pump inhibitors during pregnancy

scientific article published on 07 January 2020

TEAM: a tool for the integration of expression, and linkage and association maps

scientific article

THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge

scientific article

TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation

scientific article published in December 2016

The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema

scientific article published on 10 December 2009

The Copper Metabolism MURR1 domain protein 1 (COMMD1) modulates the aggregation of misfolded protein species in a client-specific manner

scientific article

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

scientific article

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

scientific article published on 01 January 1995

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter

scientific article published in January 1995

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

The Gut Microbiome Contributes to a Substantial Proportion of the Variation in Blood Lipids

scientific article published on 10 September 2015

The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans ⬇️

scientific article published on 6 January 2016

The Inter-Relationship of Platelets with Interleukin-1β-Mediated Inflammation in Humans

scientific article published on 19 November 2018

The Intracranial Aneurysm Susceptibility Genes HSPG2 and CSPG2 Are Not Associated With Abdominal Aortic Aneurysm

article

The Itaconate Pathway Is a Central Regulatory Node Linking Innate Immune Tolerance and Trained Immunity

scientific article published on 04 October 2018

The MHC locus and genetic susceptibility to autoimmune and infectious diseases

scientific article

The MYO9B Gene Is a Strong Risk Factor for Developing Refractory Celiac Disease

article

The PreventCD Study design: towards new strategies for the prevention of coeliac disease.

scientific article

The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections

scientific article published on 13 January 2015

The SPINK gene family and celiac disease susceptibility

scientific article

The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases.

scientific article published on 10 May 2009

The Transforming Growth Factor-β Receptor Genes and the Risk of Intracranial Aneurysms

article

The Versican Gene and the Risk of Intracranial Aneurysms

article

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis

scientific article (publication date: February 2003)

The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein

scientific article (publication date: 24 October 2003)

The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression

scientific journal article

The downstream modulator of interferon-γ, STAT1 is not genetically associated to the Dutch coeliac disease population

The effect of host genetics on the gut microbiome

scientific article published on 03 October 2016

The emerging landscape of dynamic DNA methylation in early childhood

scientific article

The exon 16-3t variant of the sulphonylurea receptor gene is not a risk factor for Type II diabetes mellitus in the Dutch Breda cohort

article

The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes

scientific article

The genetic basis of inflammatory bowel disease unravelled by genetic association studies

scientific article

The genetics of East African populations: a Nilo-Saharan component in the African genetic landscape

scientific article (publication date: 28 May 2015)

The genome revolution and its role in understanding complex diseases

scientific article published on 13 May 2014

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

scientific article

The importance of cohort studies in the post-GWAS era

scientific article published on 06 March 2018

The influence of a short-term gluten-free diet on the human gut microbiome

scientific article

The influence of proton pump inhibitors and other commonly used medication on the gut microbiota.

scientific article published on 24 January 2017

The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility.

scientific article

The long-term genetic stability and individual specificity of the human gut microbiome

scientific article published in 2021

The many faces of the copper metabolism protein MURR1/COMMD1.

scientific article

The neuroactive potential of the human gut microbiota in quality of life and depression

scientific article published on 04 February 2019

The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB ⬇️

scientific article published on 01 November 1991

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

article

The tip of the "celiac iceberg" in China: a systematic review and meta-analysis

scientific article

The tissue transglutaminase gene is not a primary factor predisposing to celiac disease

scientific article published on 01 December 2001

The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis

scientific article (publication date: November 2003)

Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9

scientific article

Tissue alarmins and adaptive cytokine induce dynamic and distinct transcriptional responses in tissue-resident intraepithelial cytotoxic T lymphocytes

scientific article published on 04 February 2020

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA

scientific article

Transcriptional profiles predict treatment outcome in patients with tuberculosis and diabetes at diagnosis and at two weeks after initiation of anti-tuberculosis treatment

scientific article published in 2022

Transmission of de-novo mutation associated with facioscapulohumeral muscular dystrophy

scientific article published on 01 October 1992

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

scientific article published on 25 February 2016

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

article

Type 2 Diabetes Mellitus: New Genetic Insights will Lead to New Therapeutics

scientific article published on April 2009

Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation

scientific article published on October 2015

Understanding Celiac Disease by Genomics

scientific article published on 10 March 2016

Understanding human immune function using the resources from the Human Functional Genomics Project

scientific article published on August 2016

Understanding the complexity of IgE-related phenotypes from childhood to young adulthood: a Mechanisms of the Development of Allergy (MeDALL) seminar

scientific article published on 03 March 2012

Understanding the molecular basis of celiac disease: what genetic studies reveal

scientific article published on January 2006

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

scientific article

Upstream transcription factor 1 (USF1) in risk of type 2 diabetes: Association study in 2000 Dutch Caucasians

Using genetic information for the identification, classification and treatment of Crohn’s disease: are we there yet?

Using genome-wide pathway analysis to unravel the etiology of complex diseases.

scientific article published in July 2009

Validation of reported genetic risk factors for periodontitis in a large-scale replication study.

scientific article published on 16 April 2013

Variance-component analysis of obesity in type 2 diabetes confirms loci on chromosomes 1q and 11q.

scientific article published in November 2003

Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans.

scientific article

Variants in the 15q24/25 locus associate with lung function decline in active smokers

scientific article

Volatile organic compounds in breath as markers for irritable bowel syndrome: a metabolomic approach

scientific article published on 2 May 2016

WNT2 locus is involved in genetic susceptibility of Peyronie's disease

scientific article published on 10 April 2012

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD

scientific article published on 10 July 2020

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

scientific article

Wnt signaling and Dupuytren's disease

scientific article

mTOR- and HIF-1α-mediated aerobic glycolysis as metabolic basis for trained immunity.

scientific article

snpEnrichR: analyzing co-localization of SNPs and their proxies in genomic regions

scientific article published on 01 December 2018

Paulina is supported by:

About Paulina

Help