Author details

Full Name

Patrick Deelen

Affiliation

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37492104	Multi-layered genetic approaches to identify approved drug targets.	Cell Genom	2023
36993312	Genetic regulation of fetal hemoglobin across global populations.	medRxiv	2023
34792549	IdÃ©fix: identifying accidental sample mix-ups in biobanks using polygenic scores.		2022
34475573	Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.	Nat Genet	2021
33737436	Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort.	BMJ Open	2021
34456334	TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.	Eur J Hum Genet	2021
32831124	CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.	Genome Med	2020
36619248	A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.	Adv Genet (Hoboken)	2020
31795902	RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous Malformations.	Stroke	2020
31591516	Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease.	Eur J Hum Genet	2020
33257979	Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.	Clinical Chemistry	2020
31253775	Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.	Nat Commun	2019
29120091	Running-wheel activity delays mitochondrial respiratory flux decline in aging mouse muscle via a post-transcriptional mechanism.	Aging Cell	2018
30390057	Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.	Nat Genet	2018
30250126	Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.	Nature Genetics	2018
30341443	Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.	Nature Genetics	2018
29610479	Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.	Nat Genet	2018
27918533	Identification of context-dependent expression quantitative trait loci in whole blood.	Nat Genet	2017
28963451	CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.	Nat Commun	2017
27473416	A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency.	Gut	2017
27918535	Disease variants alter transcription factor levels and methylation of their binding sites.	Nat Genet	2017
27711068	Corrigendum: Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi.	Nat Med	2016
27026628	RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture.	Stroke	2016
27376574	Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi.	Nat Med	2016
27126040	Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity.	Science	2016
26898941	Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs.	J Autoimmun	2016
27708267	A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.	Nat Commun	2016
27654999	Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms.	Genome Biol	2016
27694959	The effect of host genetics on the gut microbiome.	Nat Genet	2016
27974209	TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation.	Cell Rep	2016
27668658	Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.	Nat Genet	2016
27818078	Functional and Genomic Architecture of Borrelia burgdorferi-Induced Cytokine Responses in Humans.	Cell Host Microbe	2016
27490946	Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.	PLoS One	2016
27814507	A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans.	Cell	2016
26286716	Molgenis-impute: imputation pipeline in a box.	BMC Res Notes	2015
25803036	Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.	PLoS One	2015
25751400	Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.	Nat Commun	2015
25954321	Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels.	Genome Med	2015
26319774	Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics.	BMJ Open	2015
26226460	Population-specific genotype imputations using minimac or IMPUTE2.	Nat Protoc	2015
24896149	Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.	Eur J Hum Genet	2014
25282492	Genetic and epigenetic regulation of gene expression in fetal and adult human livers.	BMC Genomics	2014
25495213	Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration.	BMC Res Notes	2014
24334606	Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.	Hum Mol Genet	2014
23714750	The Genome of the Netherlands: design, and project goals.	Eur J Hum Genet	2014
23233446	A proteomics and transcriptomics approach to identify leukemic stem cell (LSC) markers.	Molecular and Cellular Proteomics	2013
22275870	Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression.	PLoS Genet	2012
21829388	Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.	PLoS Genet	2011
21627641	Exome sequencing in a family segregating for celiac disease.	Clin Genet	2011