Search filters

List of works by Lude Franke

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 characterization of cis- and trans-heritability of RNA-Seq-based gene expression

scientific article published on 26 September 2019

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

A genetic variant in granzyme B is associated with progression of joint destruction in rheumatoid arthritis

scientific article published in March 2013

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 identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention

scientific article published on 30 August 2011

A genome-wide association study of circulating galectin-3

scientific article

A large lung gene expression study identifying fibulin-5 as a novel player in tissue repair in COPD.

scientific article published on 2 July 2014

A linear mixed model approach to study multivariate gene-environment interactions

article

A linear mixed-model approach to study multivariate gene–environment interactions

article

A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus

scientific journal article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

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

scientific article published on 28 November 2006

ATR inhibition preferentially targets homologous recombination-deficient tumor cells.

scientific article published in September 2014

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

scientific article

An integrative systems genetics approach reveals potential causal genes and pathways related to obesity

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 five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

scientific article

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

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

Author Correction: GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

scientific article

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

scholarly article published in Nature Genetics

Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles

scientific article (publication date: 9 December 2013)

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

scientific article published in Nature Communications

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

scientific article (publication date: May 2014)

Biological interpretation of genome-wide association studies using predicted gene functions

scientific article published on 19 January 2015

Blood lipids influence DNA methylation in circulating cells

scientific article published on 27 June 2016

Blood pressure loci identified with a gene-centric array

scientific article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

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

scientific article published on 18 February 2019

Celiac disease: moving from genetic associations to causal variants

scientific article published on 13 June 2011

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

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

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

scientific article (publication date: August 2009)

Combination of text-mining algorithms increases the performance

scientific article published on 09 June 2006

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

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

scientific article

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

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

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

scientific article

Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes

scientific article published on 10 January 2016

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

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

scientific article published on 03 March 2008

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

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: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on June 2008

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

scientific article

Discovery and fine mapping of serum protein loci through transethnic meta-analysis

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

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

scientific article published on 5 December 2016

Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.

scientific article

Distinction in EEG slow oscillations between chronic mild traumatic brain injury and PTSD.

scientific article published on 26 May 2016

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations.

scientific article

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

scientific article

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

scientific article published on 21 December 2016

Erratum: Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function and bipolar disorder susceptibility

scholarly article published in Molecular Psychiatry

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

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

article

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

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

scientific article

Evidence for mitochondrial genetic control of autosomal gene expression

scientific article published on 18 October 2016

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

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

Extraintestinal manifestations and complications in inflammatory bowel disease: from shared genetics to shared biological pathways

scientific article published on June 2014

Feasibility of predicting allele specific expression from DNA sequencing using machine learning

scientific article published on 19 May 2021

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

scientific article

From genome to function by studying eQTLs

scientific article published on 4 May 2014

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

scientific article published on 5 November 2015

Further pharmacological characterization of eltoprazine: focus on its anxiolytic, anorexic, and adverse‑effect potential.

scientific article published in January 2017

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 for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

scientific article

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

scientific article published on 21 June 2013

Gene co-expression analysis for functional classification and gene-disease predictions

scientific article published on 10 January 2017

Gene expression analysis identifies global gene dosage sensitivity in cancer.

scientific article published on 12 January 2015

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

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 epigenetic regulation of gene expression in fetal and adult human livers

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 evidence of assortative mating in humans

scholarly article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

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

scientific article

Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

scientific article

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on 18 April 2016

Genetic variants in RBFOX3 are associated with sleep latency

scientific article

Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis.

scientific article published in July 2013

Genetic variants of inducible costimulator are associated with allergic asthma susceptibility

scientific article published on 7 August 2014

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

scientific article published on 16 December 2007

Genetic, parental and lifestyle factors influence telomere length

scientific article published on 09 June 2022

Genetics of rheumatoid arthritis contributes to biology and drug discovery

scientific article

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

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

article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

scientific article published on January 2010

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 identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association analyses identify variants in developmental genes associated with hypospadias

scientific article published on 10 August 2014

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 three new susceptibility loci for childhood body mass index

scientific article published on 24 November 2015

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

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

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

scientific journal article

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

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

scientific article published on 16 October 2020

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

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

article

Hemani et al. reply

scientific article published on October 2014

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

scientific article

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

scientific article

Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway

scientific article

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

scientific journal article

Identification of co-expression gene networks, regulatory genes and pathways for obesity based on adipose tissue RNA Sequencing in a porcine model

scientific article

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 the oxidative stress-related gene MSRA as a rheumatoid arthritis susceptibility locus by genome-wide pathway analysis

scientific article published on November 2010

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

scientific article published on 08 September 2014

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

scientific article published on 23 May 2013

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

scientific article published on 28 June 2019

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

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

scientific article published on 06 July 2021

Inter-Tissue Gene Co-Expression Networks between Metabolically Healthy and Unhealthy Obese Individuals

scientific article

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

scientific article published on 4 July 2016

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

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

Interspecific sensitivity of bees towards dimethoate and implications for environmental risk assessment

scientific article published on 30 September 2016

Laboratory impulsivity and depression in blast-exposed military personnel with post-concussion syndrome

scientific article published on 7 October 2016

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

scientific article published on 10 April 2017

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

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

scientific article published on 03 April 2019

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

scientific article

Mediation analysis demonstrates that trans-eQTLs are often explained by cis-mediation: a genome-wide analysis among 1,800 South Asians

scientific article

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

scientific journal article

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

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

scientific journal article

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

scientific article published on 7 June 2011

Multiple common variants for celiac disease influencing immune gene expression

scientific 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

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

scientific article

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

scientific article published on February 2016

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

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

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

scientific article

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 affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article

Optical isomers of phenibut inhibit [H(3)]-Gabapentin binding in vitro and show activity in animal models of chronic pain.

scientific article

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

scientific article published in Nature Communications

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

scientific article

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

scientific article

Pollen-ovule relation in Adesmia tristis and reflections on the seed-ovule ratio by interaction with pollinators in two vertical strata

scientific article

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

scientific article

Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease

scientific article published on 03 May 2020

Prevalence of mental health conditions after military blast exposure, their co-occurrence, and their relation to mild traumatic brain injury.

scientific article

Proteomic studies related to genetic determinants of variability in protein concentrations

scientific article published on 04 December 2013

Proton pump inhibitors affect the gut microbiome

scientific article published on 9 December 2015

RETRACTED ARTICLE: Detection and replication of epistasis influencing transcription in humans

retracted scholarly article

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

scientific article published on 25 April 2006

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

scientific article

Reply to 'Misestimation of heritability and prediction accuracy of male-pattern baldness'.

scientific article

SMIM1 underlies the Vel blood group and influences red blood cell traits

scientific article

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

Shared genetic variants suggest common pathways in allergy and autoimmune diseases

scientific article published on 7 February 2017

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.

scientific article published on 2 April 2018

Skewed X-inactivation is common in the general female population

scientific article published on 14 December 2018

Symptom Trajectories After Military Blast Exposure and the Influence of Mild Traumatic Brain Injury

scientific article published on 6 September 2016

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 identification of trans eQTLs as putative drivers of known disease associations

scientific article (publication date: October 2013)

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

scientific article

The Chronic Effects of Neurotrauma Consortium (CENC) multi-centre observational study: Description of study and characteristics of early participants

scientific article published on January 2016

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 effect of host genetics on the gut microbiome

scientific article published on 03 October 2016

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The landscape of chromosomal aberrations in breast cancer mouse models reveals driver-specific routes to tumorigenesis

scientific article published on 04 July 2016

The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia.

scientific article published on 16 November 2012

The single-cell eQTLGen consortium

scientific article published on 09 March 2020

The transcriptional landscape of age in human peripheral blood

scientific article

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

Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

scientific article published on 08 March 2016

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

scientific article published on August 2016

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

scientific article

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

scientific article published in July 2009

Wnt signaling and Dupuytren's disease

scientific article

eQTL analysis in humans

scientific article published on January 2009

Paulina is supported by:

About Paulina

Help