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Lista de obras de Franke A

1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data

scientific journal article

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

4th Pediatric Allergy and Asthma Meeting (PAAM)

artículo científico publicado en 2016

A 5,000-year-old hunter-gatherer already plagued by Yersinia pestis

artículo científico publicado en 2021

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

artículo científico publicado en 2017

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5

artículo científico publicado en 2007

A Proposal for a Study on Treatment Selection and Lifestyle Recommendations in Chronic Inflammatory Diseases: A Danish Multidisciplinary Collaboration on Prognostic Factors and Personalised Medicine

artículo científico publicado en 2017

A benchmark of hemoglobin blocking during library preparation for mRNA-Sequencing of human blood samples

scientific article published on 27 March 2020

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology.

artículo científico publicado en 2012

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A characterization in childhood inflammatory bowel disease, a new population-based inception cohort from South-Eastern Norway, 2005-07, showing increased incidence in Crohn's disease

scientific article published on 01 January 2009

A combined epigenome- and transcriptome-wide association study of the oral masticatory mucosa assigns CYP1B1 a central role for epithelial health in smokers

scientific article published on 22 July 2019

A common variant on chromosome 11q13 is associated with atopic dermatitis.

artículo científico publicado en 2009

A comprehensive analysis of the COL29A1 gene does not support a role in eczema

artículo científico publicado en 2011

A comprehensive evaluation of SNP genotype imputation

artículo científico publicado en 2008

A comprehensive, cell specific microRNA catalogue of human peripheral blood.

artículo científico publicado en 2017

A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease

artículo científico publicado en 2020

A disease-specific decline of the relative abundance of Bifidobacterium in patients with autoimmune hepatitis

scientific article published on 07 May 2020

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

artículo científico publicado en 2010

A functional EXO1 promoter variant is associated with prolonged life expectancy in centenarians

artículo científico publicado en 2009

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

artículo científico publicado en 2013

A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations

artículo científico publicado en 2009

A functional methylome map of ulcerative colitis

artículo científico publicado en 2012

A fungal pathogen induces systemic susceptibility and systemic shifts in wheat metabolome and microbiome composition

artículo científico publicado en 2020

A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe

artículo científico publicado en 2013

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

artículo científico publicado en 2007

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

artículo científico publicado en 2007

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

article

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis

artículo científico publicado en 2015

A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis

artículo científico publicado en 2017

A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis

artículo científico publicado en 2018

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

artículo científico publicado en 2013

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.

artículo científico publicado en 2015

A genome-wide association study reveals evidence of association with sarcoidosis at 6p12.1.

artículo científico publicado en 2011

A haplotype block downstream of plasminogen is associated with chronic and aggressive periodontitis

artículo científico publicado en 2017

A high-resolution map of the human small non-coding transcriptome

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1

artículo científico publicado en 2012

A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility

artículo científico publicado en 2017

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

A role of FCER1A and FCER2 polymorphisms in IgE regulation.

artículo científico publicado en 2013

A sex-chromosome inversion causes strong overdominance for sperm traits that affect siring success

artículo científico publicado en 2017

A structured weight loss program increases gut microbiota phylogenetic diversity and reduces levels of Collinsella in obese type 2 diabetics: A pilot study

scientific article published on 18 July 2019

A tissue-specific landscape of sense/antisense transcription in the mouse intestine

artículo científico publicado en 2011

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

artículo científico publicado en 2017

Abundant genetic overlap between blood lipids and immune-mediated diseases indicates shared molecular genetic mechanisms

artículo científico publicado en 2015

Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing

artículo científico publicado en 2012

Alterations of the bile microbiome in primary sclerosing cholangitis

artículo científico publicado en 2019

Altered gut microbial metabolism of essential nutrients in primary sclerosing cholangitis

artículo científico publicado en 2020

Amino acid encoding for deep learning applications

artículo científico publicado en 2020

An open, multicentre, randomized clinical study in patients with bullous pemphigoid comparing methylprednisolone and azathioprine with methylprednisolone and dapsone.

artículo científico publicado en 2017

Analysis of SARS-CoV-2 reverse transcription-quantitative polymerase chain reaction cycle threshold values vis-à-vis anti-SARS-CoV-2 antibodies from a high incidence region

artículo científico publicado en 2021

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

artículo científico publicado en 2016

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Analysis of intestinal microbiota in hybrid house mice reveals evolutionary divergence in a vertebrate hologenome

artículo científico publicado en 2015

Analysis of long non-coding RNA and mRNA expression in bovine macrophages brings up novel aspects of Mycobacterium avium subspecies paratuberculosis infections

artículo científico publicado en 2019

Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans.

artículo científico publicado en 2018

Anti-glycoprotein 2 (anti-GP2) IgA and anti-neutrophil cytoplasmic antibodies to serine proteinase 3 (PR3-ANCA): antibodies to predict severe disease, poor survival and cholangiocarcinoma in primary sclerosing cholangitis

artículo científico publicado en 2020

Application of the distance-based F test in an mGWAS investigating β diversity of intestinal microbiota identifies variants in SLC9A8 (NHE8) and 3 other loci

artículo científico publicado en 2017

Arrhythmic Gut Microbiome Signatures Predict Risk of Type 2 Diabetes

artículo científico publicado en 2020

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

artículo científico publicado en 2021

Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study

artículo científico publicado en 2011

Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease

artículo científico publicado en 2016

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

artículo científico publicado en 2017

Association analyses identify six new psoriasis susceptibility loci in the Chinese population

artículo científico publicado en 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 mapping of morphological traits in wild and captive zebra finches: reliable within, but not between populations

artículo científico publicado en 2017

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

artículo científico publicado en 2015

Association of UCP2 -866 G/A polymorphism with chronic inflammatory diseases

artículo científico publicado en 2009

Association of a common TLR-6 polymorphism with coronary artery disease - implications for healthy ageing?

artículo científico publicado en 2013

Association to the Glypican-5 gene in multiple sclerosis

article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Atopic Dermatitis Is an IL-13-Dominant Disease with Greater Molecular Heterogeneity Compared to Psoriasis

scientific article published on 11 January 2019

Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes

artículo científico publicado en 2015

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

artículo científico publicado en 2022

Autoantibody-negative insulin-dependent diabetes mellitus after SARS-CoV-2 infection: a case report

artículo científico publicado en 2020

Automated real-time monitoring of human pluripotent stem cell aggregation in stirred tank reactors

scientific article published on 23 August 2019

Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.

artículo científico publicado en 2013

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

B-SOLANA: an approach for the analysis of two-base encoding bisulfite sequencing data

artículo científico publicado en 2011

Base-pair resolution DNA methylome of the EBV-positive Endemic Burkitt lymphoma cell line DAUDI determined by SOLiD bisulfite-sequencing.

artículo científico publicado en 2013

Beneficial Effects of a Dietary Weight Loss Intervention on Human Gut Microbiome Diversity and Metabolism Are Not Sustained during Weight Maintenance

artículo científico publicado en 2016

Boolean analysis reveals systematic interactions among low-abundance species in the human gut microbiome.

artículo científico publicado en 2017

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

CD4+ T cells from patients with primary sclerosing cholangitis exhibit reduced apoptosis and down-regulation of proapoptotic Bim in peripheral blood.

artículo científico publicado en 2016

CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

scientific journal article

CNVineta: a data mining tool for large case-control copy number variation datasets

artículo científico publicado en 2010

Carrying asymptomatic gallstones is not associated with changes in intestinal microbiota composition and diversity but cholecystectomy with significant dysbiosis

artículo científico publicado en 2021

Characterization of changes in serum anti-glycan antibodies in Crohn's disease--a longitudinal analysis

artículo científico publicado en 2011

Childhood acute lymphoblastic leukemia-associated risk-loci IKZF1, ARID5B and CEBPE and risk of pediatric non-Hodgkin lymphoma: a report from the Berlin-Frankfurt-Münster Study Group.

artículo científico publicado en 2014

Childhood asthma is associated with mutations and gene expression differences of ORMDL genes that can interact.

artículo científico publicado en 2015

Chromosome 7p11.2 (EGFR) variation influences glioma risk

scientific journal article

Circulating levels of soluble Dipeptidylpeptidase-4 are reduced in human subjects hospitalized for severe COVID-19 infections

scientific article published on 21 September 2020

Circulating sDPP-4 is increased in obesity and insulin resistance but is not related to systemic metabolic inflammation

artículo científico publicado en 2020

Classical HLA-DRB1 and DPB1 alleles account for HLA associations with primary biliary cirrhosis

artículo científico publicado en 2012

Clinical correlates of anti-SARS-CoV-2 antibody profiles in Spanish COVID-19 patients from a high incidence region

artículo científico publicado en 2021

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

article published in 2010

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Cold-induced conversion of cholesterol to bile acids in mice shapes the gut microbiome and promotes adaptive thermogenesis.

artículo científico publicado en 2017

Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype

artículo científico publicado en 2011

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2013

Comparative Studies of the Gut Microbiota in the Offspring of Mothers With and Without Gestational Diabetes

scientific article published on 23 October 2020

Comparative analysis of amplicon and metagenomic sequencing methods reveals key features in the evolution of animal metaorganisms

scientific article published on 14 September 2019

Comparing genome versus proteome-based identification of clinical bacterial isolates

artículo científico publicado en 2016

Complement Receptor 1 (CR1, CD35) Polymorphisms and Soluble CR1: A Proposed Anti-inflammatory Role to Quench the Fire of "Fogo Selvagem" Pemphigus Foliaceus

scientific article published on 22 November 2019

Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease

scientific article published on 01 December 2018

Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach

artículo científico publicado en 2011

Comprehensive analysis of microRNA profiles in multiple sclerosis including next-generation sequencing

artículo científico publicado en 2013

Concentration and chemical form of dietary zinc shape the porcine colon microbiome, its functional capacity and antibiotic resistance gene repertoire

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

artículo científico publicado en 2015

Consistent alterations in faecal microbiomes of patients with primary sclerosing cholangitis independent of associated colitis

artículo científico publicado en 2019

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.

artículo científico publicado en 2019

Copy number variants in lipid metabolism genes are associated with gallstones disease in men

scientific article published on 04 September 2019

Correction: Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms

artículo científico publicado en 2015

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Correction: Serum anti-glycan-antibodies in relatives of patients with inflammatory bowel disease

artículo científico publicado en 2018

Corrigendum: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

artículo científico publicado en 2016

Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

artículo científico publicado en 2022

Current software for genotype imputation

artículo científico publicado en 2009

DMBT1 functions as pattern-recognition molecule for poly-sulfated and poly-phosphorylated ligands

artículo científico publicado en 2009

DNA methylation QTL analysis identifies new regulators of human longevity

scientific article published on 11 March 2020

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.

artículo científico publicado en 2018

DNA methylome analysis using short bisulfite sequencing data

artículo científico publicado en 2012

Deciphering the 8q24.21 association for glioma

artículo científico publicado en 2013

Deep characterization of blood cell miRNomes by NGS

artículo científico publicado en 2016

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

artículo científico publicado en 2011

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.

artículo científico publicado en 2015

Dense sampling of bird diversity increases power of comparative genomics

artículo científico publicado en 2020

Depletion of erythropoietic miR-486-5p and miR-451a improves detectability of rare microRNAs in peripheral blood-derived small RNA sequencing libraries

artículo científico publicado en 2020

Development of a high-resolution NGS-based HLA-typing and analysis pipeline

artículo científico publicado en 2015

Dickkopf related genes are components of the positional value gradient in Hydra.

artículo científico publicado en 2006

Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology

artículo científico publicado en 2020

Differential Effects of Obesity, Hyperlipidaemia, Dietary Intake and Physical Inactivity on Type I versus Type IV Allergies

artículo científico publicado en 2022

Differential analysis of Crohn's disease and ulcerative colitis by mass spectrometry

artículo científico publicado en 2011

Discovery and validation of plasma proteomic biomarkers relating to brain amyloid burden by SOMAscan assay

artículo científico publicado en 2019

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Distinct barrier integrity phenotypes in filaggrin-related atopic eczema following sequential tape stripping and lipid profiling

artículo científico publicado en 2011

Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages

artículo científico publicado en 2016

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4

artículo científico publicado en 2015

Ecology impacts the decrease of Spirochaetes and Prevotella in the fecal gut microbiota of urban humans

artículo científico publicado en 2021

Editorial: gut microbial profile associated with primary sclerosing cholangitis-what is new and how do we progress from here? Authors' reply

scientific article published on 01 September 2019

Efficacy assessment of SNP sets for genome-wide disease association studies

artículo científico publicado en 2007

Elucidating the Influence of Chromosomal Architecture on Transcriptional Regulation in Prokaryotes - Observing Strong Local Effects of Nucleoid Structure on Gene Regulation

artículo científico publicado en 2020

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

artículo científico publicado en 2015

Epidermal lipid composition, barrier integrity and eczematous inflammation are associated with skin microbiome configuration

artículo científico publicado en 2018

Epigenetic adaptations of the masticatory mucosa to periodontal inflammation

artículo científico publicado en 2021

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

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: Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

scholarly article published in Nature Genetics

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: Less functional variants of TLR-1/-6/-10 genes are associated with age.

artículo científico publicado en 2015

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

artículo científico publicado en 2014

Evolutionary Distance Predicts Recurrence After Liver Transplantation in Multifocal Hepatocellular Carcinoma

scientific article published on 01 October 2018

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

artículo científico publicado en 2017

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

artículo científico publicado en 2015

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

scientific article published on 04 May 2020

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

artículo científico publicado en 2017

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

artículo científico publicado en 2013

Exposure to the gut microbiota drives distinct methylome and transcriptome changes in intestinal epithelial cells during postnatal development.

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Faecal microbiota composition associates with abdominal pain in the general population.

artículo científico publicado en 2017

Faecal microbiota profiles as diagnostic biomarkers in primary sclerosing cholangitis

artículo científico publicado en 2016

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

artículo científico publicado en 2009

Female-specific Association Between Variants on Chromosome 9 and Self-reported Diagnosis of Irritable Bowel Syndrome.

artículo científico publicado en 2018

Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis

artículo científico publicado en 2012

Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes

artículo científico publicado en 2014

Fine-mapping inflammatory bowel disease loci to single-variant resolution

artículo científico publicado en 2017

Fine-mapping of IgE-associated loci 1q23, 5q31, and 12q13 using 1000 Genomes Project data

artículo científico publicado en 2014

First known case of paediatric inflammatory bowel disease in a western lowland gorilla may be linked to a familial mutation in the MEFV gene

scientific article published on 21 June 2019

Fitness consequences of polymorphic inversions in the zebra finch genome

artículo científico publicado en 2016

Formula-feeding predisposes neonatal piglets to Clostridium difficile gut infection

artículo científico publicado en 2017

Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia.

artículo científico publicado en 2013

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

artículo científico publicado en 2012

Functional abdominal pain and discomfort (IBS) is not associated with faecal microbiota composition in the general population

article

Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression

artículo científico publicado en 2007

Functional sequencing read annotation for high precision microbiome analysis

artículo científico publicado en 2017

Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

artículo científico publicado en 2016

G protein-coupled receptor 43 is essential for neutrophil recruitment during intestinal inflammation

artículo científico publicado en 2009

GENOMIZER: an integrated analysis system for genome-wide association data

artículo científico publicado en 2006

GMFilter and SXTestPlate: software tools for improving the SNPlex genotyping system

artículo científico publicado en 2009

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

artículo científico publicado en 2015

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

scientific article published on 31 October 2019

GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome

publication published on 08 December 2021

Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals

artículo científico publicado en 2010

Genetic Associations and Differential mRNA Expression Levels of Host Genes Suggest a Viral Trigger for Endemic Pemphigus Foliaceus

artículo científico publicado en 2022

Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice

artículo científico publicado en 2017

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

artículo científico publicado en 2013

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea

artículo científico publicado en 2018

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

artículo científico publicado en 2017

Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men

artículo científico publicado en 2009

Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Genetic background of high blood pressure is associated with reduced mortality in premature neonates

scientific article published on 14 June 2019

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

scientific article published on 16 October 2018

Genetic determinants of risk and survival in pulmonary arterial hypertension

article

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

artículo científico publicado en 2018

Genetic factors conferring an increased susceptibility to develop Crohn's disease also influence disease phenotype: results from the IBDchip European Project

artículo científico publicado en 2012

Genetic investigation of DNA-repair pathway genesPMS2,MLH1,MSH2,MSH6,MUTYH,OGG1 andMTH1 in sporadic colon cancer

article

Genetic markers associated with long-term cardiovascular outcome in kidney transplant recipients

artículo científico publicado en 2018

Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis

artículo científico publicado en 2010

Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.

artículo científico publicado en 2018

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan

artículo científico publicado en 2020

Genetic risk profiling and prediction of disease course in Crohn's disease patients

artículo científico publicado en 2009

Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients

scientific article published in Nature Communications

Genetic variability of immune-related lncRNAs: polymorphisms in linc-pint and LY86-AS1 are associated with pemphigus foliaceus susceptibility

artículo científico publicado en 2021

Genetic variation in HSD17B13 reduces the risk of developing cirrhosis and hepatocellular carcinoma in alcohol misusers

scientific article published on 19 October 2019

Genetic variation in TH17 pathway genes, childhood asthma, and total serum IgE levels

article

Genetic variation in the Toll-like receptor signaling pathway is associated with childhood asthma

artículo científico publicado en 2012

Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis

artículo científico publicado en 2012

Genetics in primary sclerosing cholangitis

artículo científico

Genetics in primary sclerosing cholangitis.

artículo científico

Genome-Wide Association Study of Alzheimer’s Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery Dataset

artículo científico publicado en 2022

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

artículo científico publicado en 2015

Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.

artículo científico publicado en 2015

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

artículo científico publicado en 2017

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster

artículo científico publicado en 2011

Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci

scientific article published on 04 April 2017

Genome-wide association analysis identifies three psoriasis susceptibility loci

scientific journal article

Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota.

artículo científico publicado en 2016

Genome-wide association analysis in primary sclerosing cholangitis

artículo científico publicado en 2009

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 analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.

artículo científico publicado en 2008

Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms

scientific article published on 19 January 2019

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis

scientific journal article

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

artículo científico publicado en 2012

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

artículo científico publicado en 2019

Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus

scientific article published in Scientific Reports

Genome-wide association studies--a summary for the clinical gastroenterologist

artículo científico publicado en 2009

Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci

artículo científico publicado en 2007

Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).

artículo científico publicado en 2010

Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis

artículo científico publicado en 2008

Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2

artículo científico publicado en 2010

Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus.

artículo científico publicado en 2015

Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population

artículo científico publicado en 2011

Genome-wide association study indicates two novel resistance loci for severe malaria

scientific journal article

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

artículo científico publicado en 2020

Genome-wide association study of kidney function decline in individuals of European descent

artículo científico publicado en 2014

Genome-wide association study of myocardial infarction, atrial fibrillation, acute stroke, acute kidney injury and delirium after cardiac surgery - a sub-analysis of the RIPHeart-Study

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Genome-wide association study of psoriasis in an Egyptian population

scientific article published on 01 May 2019

Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases

artículo científico publicado en 2016

Genome-wide associations of human gut microbiome variation and implications for causal inference analyses

artículo científico publicado en 2020

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms

artículo científico publicado en 2015

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

artículo científico publicado en 2010

Genome-wide investigation of gene-environment interactions in colorectal cancer

artículo científico publicado en 2012

Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL

scientific journal article

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

artículo científico publicado en 2018

Genome-wide miRNA signatures of human longevity.

artículo científico publicado en 2012

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

artículo científico publicado en 2016

Genome-wide study of a Neolithic Wartberg grave community reveals distinct HLA variation and hunter-gatherer ancestry

artículo científico publicado en 2021

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy

artículo científico publicado en 2019

Genomewide Association Study of Severe Covid-19 with Respiratory Failure

scientific article published on 17 June 2020

Genomic characterization of cholangiocarcinoma in primary sclerosing cholangitis reveals novel therapeutic opportunities

scientific article published on 10 January 2020

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options

artículo científico publicado en 2015

Gestational diabetes is associated with change in the gut microbiota composition in third trimester of pregnancy and postpartum.

artículo científico publicado en 2018

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files

artículo científico publicado en 2014

Gut mycobiome of primary sclerosing cholangitis patients is characterised by an increase of Trichocladium griseum and Candida species

scientific article published on 25 October 2019

HLA Associations Distinguish Collagenous From Lymphocytic Colitis

article

HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry.

artículo científico publicado en 2017

HLA variants related to primary sclerosing cholangitis influence rejection after liver transplantation.

scientific article published on April 2014

Haplotype synthesis analysis reveals functional variants underlying known genome-wide associated susceptibility loci

artículo científico publicado en 2016

Heart failure is associated with depletion of core intestinal microbiota

artículo científico publicado en 2017

Helicobacter pylori infection associates with fecal microbiota composition and diversity

artículo científico publicado en 2019

High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

artículo científico publicado en 2015

High-Resolution HLA-Typing by Next-Generation Sequencing of Randomly Fragmented Target DNA

artículo científico publicado en 2018

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

scientific article published on 02 June 2013

High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

artículo científico publicado en 2015

Host-Microbe-Drug-Nutrient Screen Identifies Bacterial Effectors of Metformin Therapy

scientific article published on 29 August 2019

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

artículo científico publicado en 2012

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

artículo científico publicado en 2018

Hypothalamic Inflammation in Human Obesity Is Mediated by Environmental and Genetic Factors.

artículo científico publicado en 2017

IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia

artículo científico publicado en 2018

IL-17A is functionally relevant and a potential therapeutic target in bullous pemphigoid

artículo científico publicado en 2018

IL-22 Paucity in APECED Is Associated With Mucosal and Microbial Alterations in Oral Cavity

artículo científico publicado en 2020

Identification and characterization of a defective CYP3A4 genotype in a kidney transplant patient with severely diminished tacrolimus clearance.

artículo científico publicado en 2013

Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Identification of Disease-associated Traits and Clonotypes in the T Cell Receptor Repertoire of Monozygotic Twins Affected by Inflammatory Bowel Diseases

artículo científico publicado en 2020

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

artículo científico publicado en 2010

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

artículo científico publicado en 2015

Identification of disease-associated traits and clonotypes in the T-cell receptor repertoire of monozygotic twins affected by inflammatory bowel diseases

scientific article published on 11 November 2019

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia

scientific journal article

Identification of long intergenic non-coding RNAs (lincRNAs) deregulated in gastrointestinal stromal tumors (GISTs)

scientific article published in PLoS ONE

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

artículo científico publicado en 2017

Identifying Crohn's disease signal from variome analysis

scientific article published on 30 September 2019

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

artículo científico publicado en 2012

Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

artículo científico publicado en 2016

Immunopeptidomics toolkit library (IPTK): a python-based modular toolbox for analyzing immunopeptidomics data

scientific article published on 17 August 2021

Impact of red and processed meat and fibre intake on treatment outcomes among patients with chronic inflammatory diseases: protocol for a prospective cohort study of prognostic factors and personalised medicine.

artículo científico publicado en 2018

Impaired Exocrine Pancreatic Function Associates With Changes in Intestinal Microbiota Composition and Diversity

article

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease

artículo científico publicado en 2015

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing

artículo científico publicado en 2012

Imputation of KIR Types from SNP Variation Data

artículo científico publicado en 2015

Increased prevalence of rare sucrase-isomaltase (SI) pathogenic variants in irritable bowel syndrome patients

artículo científico publicado en 2018

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

artículo científico publicado en 2015

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

artículo científico publicado en 2018

Integrated quantitative proteomic and transcriptomic analysis of lung tumor and control tissue: a lung cancer showcase

artículo científico publicado en 2016

Integrating Culture-based Antibiotic Resistance Profiles with Whole-genome Sequencing Data for 11,087 Clinical Isolates

artículo científico publicado en 2019

Integration of Murine and Human Studies for Mapping Periodontitis Susceptibility.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Interdisciplinary approach towards a systems medicine toolbox using the example of inflammatory diseases

artículo científico publicado en 2016

Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2

artículo científico publicado en 2013

Intestinal protozoan infections shape fecal bacterial microbiota in children from Guinea-Bissau

artículo científico publicado en 2021

Investigation of complement component C4 copy number variation in human longevity

artículo científico publicado en 2014

Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study

artículo científico publicado en 2010

Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer

artículo científico publicado en 2009

Investigation of the DAOA/G30 locus in panic disorder.

artículo científico publicado en 2005

Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease.

artículo científico publicado en 2006

Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease

artículo científico publicado en 2007

Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample

article

Is there a male-specific effect on hypertension?

artículo científico publicado en 2015

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

artículo científico publicado en 2017

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

artículo científico publicado en 2013

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

artículo científico publicado en 2017

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn's disease

scientific article published on 10 December 2019

Less functional variants of TLR-1/-6/-10 genes are associated with age

artículo científico publicado en 2015

Leveraging ethnic group incidence variation to investigate genetic susceptibility to glioma: a novel candidate SNP approach

artículo científico publicado en 2012

Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci

artículo científico publicado en 2012

Linkage analysis identifies novel genetic modifiers of microbiome traits in families with inflammatory bowel disease

scientific article published in 2022

Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network

scientific article published on 29 March 2019

LitDB - Keeping Track of Research Papers From Your Institute Made Simple. ⬇️

artículo científico publicado en 2017

Liver infiltrating T cells regulate bile acid metabolism in experimental cholangitis

artículo científico publicado en 2019

Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction

artículo científico publicado en 2022

Loci From a Genome-Wide Analysis of Bilirubin Levels Are Associated With Gallstone Risk and Composition

article

Long-term instability of the intestinal microbiome is associated with metabolic liver disease, low microbiota diversity, diabetes mellitus and impaired exocrine pancreatic function

artículo científico publicado en 2020

Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19

scientific article published on 26 November 2020

Longitudinal high-throughput TCR repertoire profiling reveals the dynamics of T cell memory formation after mild COVID-19 infection

artículo científico publicado en 2020

Longitudinal high-throughput TCR repertoire profiling reveals the dynamics of T cell memory formation after mild COVID-19 infection

artículo científico publicado en 2021

Low copy numbers of complement C4 and homozygous deficiency of C4A may predispose to severe disease and earlier disease onset in patients with systemic lupus erythematosus

artículo científico publicado en 2017

Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222.

artículo científico publicado en 2013

Low-Avidity CD4<sup>+</sup> T Cell Responses to SARS-CoV-2 in Unexposed Individuals and Humans with Severe COVID-19

scientific article published on 26 November 2020

Low-Frequency Blood Group Antigens in Switzerland

article

Male-specific association between MT-ND4 11719 A/G polymorphism and ulcerative colitis: a mitochondria-wide genetic association study

artículo científico publicado en 2016

Mapping of quantitative trait loci controlling lifespan in the short-lived fish Nothobranchius furzeri--a new vertebrate model for age research.

artículo científico publicado en 2012

Mechanisms of IFN-γ-induced apoptosis of human skin keratinocytes in patients with atopic dermatitis

artículo científico publicado en 2012

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease

artículo científico publicado en 2016

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

artículo científico publicado en 2010

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

scientific journal article

Meta-analysis identifies seven susceptibility loci involved in the atopic march

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

artículo científico publicado en 2012

Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

artículo científico publicado en 2020

Metabolic Functions of Gut Microbes Associate With Efficacy of Tumor Necrosis Factor Antagonists in Patients With Inflammatory Bowel Diseases

artículo científico publicado en 2019

Metastatic triple-negative breast cancer patient with TP53 tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse events

artículo científico publicado en 2017

Methotrexate Treatment of Newly Diagnosed RA Patients Is Associated With DNA Methylation Differences at Genes Relevant for Disease Pathogenesis and Pharmacological Action

artículo científico publicado en 2021

MiRNA profiling of gastrointestinal stromal tumors by next-generation sequencing

artículo científico publicado en 2017

MicroRNA Response of Primary Human Macrophages to Arcobacter Butzleri Infection

artículo científico publicado en 2016

Microbial exposure during early life has persistent effects on natural killer T cell function

artículo científico publicado en 2012

Microbiomarkers in inflammatory bowel diseases: caveats come with caviar

artículo científico publicado en 2017

Minor compositional alterations in faecal microbiota after five weeks and five months storage at room temperature on filter papers

artículo científico publicado en 2019

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Mitochondrial DNA variants in obesity

artículo científico publicado en 2014

Monocytes as potential mediators of pathogen-induced Th17 differentiation in patients with primary sclerosing cholangitis (PSC)

artículo científico publicado en 2020

Motor, cognitive and mobility deficits in 1000 geriatric patients: protocol of a quantitative observational study before and after routine clinical geriatric treatment - the ComOn-study

artículo científico publicado en 2020

Mucosal Autoimmunity to Cell-Bound GP2 Isoforms Is a Sensitive Marker in PSC and Associated With the Clinical Phenotype

artículo científico publicado en 2018

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Mutual antagonism of T cells causing psoriasis and atopic eczema

artículo científico publicado en 2011

NGS-based methylation profiling differentiates TCF3-HLF and TCF3-PBX1 positive B-cell acute lymphoblastic leukemia

artículo científico publicado en 2018

NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease

artículo científico publicado en 2010

Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases

artículo científico publicado en 2012

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice

artículo científico publicado en 2016

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

artículo científico publicado en 2012

New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

artículo científico publicado en 2015

New loci associated with kidney function and chronic kidney disease

artículo científico publicado en 2010

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

artículo científico

New technologies for DNA analysis--a review of the READNA Project

artículo científico publicado en 2015

No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors

scholarly article by Franziska Hopfner et al published 2019 in Translational Neurodegeneration

No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population

artículo científico publicado en 2015

Normal gut microbiome in NMDA receptor encephalitis

scientific article published on 17 October 2019

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

artículo científico publicado en 2016

OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease

artículo científico publicado en 2009

Obese Individuals with and without Type 2 Diabetes Show Different Gut Microbial Functional Capacity and Composition

scientific article published on 06 August 2019

Opportunities and challenges of whole-genome and -exome sequencing.

artículo científico publicado en 2017

Overview of methodologies for T-cell receptor repertoire analysis

artículo científico

PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites

artículo científico publicado en 2012

PTPN2 is associated with Crohn's disease and its expression is regulated by NKX2-3.

artículo científico publicado en 2012

Paired proteomics, transcriptomics and miRNomics in non-small cell lung cancers: known and novel signaling cascades

artículo científico publicado en 2016

Paleoproteomic study of the Iceman's brain tissue.

artículo científico publicado en 2013

Paternal chronic colitis causes epigenetic inheritance of susceptibility to colitis.

artículo científico publicado en 2016

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

artículo científico publicado en 2018

Polymorphisms in extracellular signal-regulated kinase family influence genetic susceptibility to asthma

artículo científico publicado en 2013

Polymorphisms in the 3'-untranslated region of the CDH1 gene are a risk factor for primary gastric diffuse large B-cell lymphoma

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Pregnancy in primary sclerosing cholangitis

artículo científico publicado en 2011

Primary and secondary anti-viral response captured by the dynamics and phenotype of individual T cell clones

scientific article published on 21 February 2020

Primate phageomes are structured by superhost phylogeny and environment

artículo científico publicado en 2021

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression

scientific article published on 09 November 2019

Pseudomonas aeruginosa populations in the cystic fibrosis lung lose susceptibility to newly applied β-lactams within 3 days

artículo científico publicado en 2019

Psoriasis and cardiometabolic traits: modest association but distinct genetic architectures

artículo científico publicado en 2015

Publisher Correction: Identification and characterization of two functional variants in the human longevity gene FOXO3.

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

artículo científico publicado en 2018

Quantifying realized inbreeding in wild and captive animal populations

artículo científico publicado en 2015

Quantitative comparison of within-sample heterogeneity scores for DNA methylation data

artículo científico publicado en 2020

RNA based individualized drug selection in breast cancer patients without patient-matched normal tissue

artículo científico publicado en 2018

Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

artículo científico publicado en 2011

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2013

Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.

artículo científico publicado en 2016

Rare phenotypes in the understanding of autoimmunity

artículo científico publicado en 2016

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

artículo científico publicado en 2021

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

artículo científico publicado en 2015

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

scientific journal article

Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population

artículo científico publicado en 2014

Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis

artículo científico publicado en 2008

Replication study of ulcerative colitis risk loci in a Lithuanian-Latvian case-control sample.

artículo científico publicado en 2013

Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells

artículo científico publicado en 2020

Rhinovirus infections change DNA methylation and mRNA expression in children with asthma

artículo científico publicado en 2018

Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis

article

Role of prothrombin 19911 A>G polymorphism, blood group and male gender in patients with venous thromboembolism: Results of a German cohort study

artículo científico publicado en 2020

Role of wnt5a in Metabolic Inflammation in Humans

artículo científico publicado en 2018

SARS-CoV-2 Nsp13 encodes for an HLA-E-stabilizing peptide that abrogates inhibition of NKG2A-expressing NK cells

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation

artículo científico publicado en 2020

SLC23A1polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis

SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region

artículo científico publicado en 2010

SNPexp - A web tool for calculating and visualizing correlation between HapMap genotypes and gene expression levels

artículo científico publicado en 2010

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Serologic Anti-GP2 Antibodies Are Associated with Genetic Polymorphisms, Fibrostenosis, and Need for Surgical Resection in Crohn's Disease

artículo científico publicado en 2016

Serum anti-glycan-antibodies in relatives of patients with inflammatory bowel disease.

artículo científico publicado en 2018

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample

artículo científico publicado en 2017

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease

artículo científico publicado en 2020

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

artículo científico publicado en 2017

Small ncRNA-Seq Results of Human Tissues: Variations Depending on Sample Integrity

artículo científico publicado en 2018

Sparse Modeling Reveals miRNA Signatures for Diagnostics of Inflammatory Bowel Disease

artículo científico publicado en 2015

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies

scientific article published on 08 February 2020

Stool frequency is associated with gut microbiota composition.

artículo científico publicado en 2016

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

artículo científico publicado en 2015

Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition.

artículo científico publicado en 2018

Sugar-Induced Obesity and Insulin Resistance Are Uncoupled from Shortened Survival in Drosophila

scientific article published on 19 March 2020

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Systematic association mapping identifies NELL1 as a novel IBD disease gene

artículo científico publicado en 2007

Systematic permutation testing in GWAS pathway analyses: identification of genetic networks in dilated cardiomyopathy and ulcerative colitis.

artículo científico publicado en 2014

Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases

artículo científico publicado en 2016

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

artículo científico publicado en 2017

Targeted Microbiome Intervention by Microencapsulated Delayed-Release Niacin Beneficially Affects Insulin Sensitivity in Humans

artículo científico publicado en 2017

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk

artículo científico publicado en 2016

Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations

scientific article published on 30 April 2020

Targeted enrichment of genomic DNA regions for next-generation sequencing

artículo científico publicado en 2011

The ABO blood group locus and a chromosome 3 gene cluster associate with SARS-CoV-2 respiratory failure in an Italian-Spanish genome-wide association analysis

artículo científico publicado en 2020

The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma

article

The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

scientific article published on 24 July 2018

The Gut Microbiome in Patients With Chronic Pancreatitis Is Characterized by Significant Dysbiosis and Overgrowth by Opportunistic Pathogens

artículo científico publicado en 2020

The Iceman's Last Meal Consisted of Fat, Wild Meat, and Cereals

article

The Impact of Oral Sodium Chloride Supplementation on Thrive and the Intestinal Microbiome in Neonates With Small Bowel Ostomies: A Prospective Cohort Study

scientific article published on 10 July 2020

The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study

artículo científico publicado en 2015

The PF4/PPBP/CXCL5 Gene Cluster Is Associated with Periodontitis

artículo científico publicado en 2017

The age related markers lipofuscin and apoptosis show different genetic architecture by QTL mapping in short-lived Nothobranchius fish

artículo científico publicado en 2014

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

artículo científico publicado en 2021

The antibiotic resistome and microbiota landscape of refugees from Syria, Iraq and Afghanistan in Germany.

artículo científico publicado en 2018

The blood-brain barrier is dysregulated in COVID-19 and serves as a CNS entry route for SARS-CoV-2

scientific article published on 20 January 2022

The dynamic genome of Hydra

artículo científico publicado en 2010

The genetics of Crohn's disease and ulcerative colitis--status quo and beyond

artículo científico publicado en 2015

The role of the gut microbiome in the association between habitual anthocyanin intake and visceral abdominal fat in population-level analysis

scientific article published on 01 February 2020

The utility of genome-wide association studies in hepatology

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Toward the blood-borne miRNome of human diseases.

artículo científico publicado en 2011

Towards a molecular risk map--recent advances on the etiology of inflammatory bowel disease

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Transcriptomic Analysis of Intestinal Tissues from Two 90-Day Feeding Studies in Rats Using Genetically Modified MON810 Maize Varieties

artículo científico publicado en 2017

Translation of mouse model to human gives insights into periodontitis etiology

artículo científico publicado en 2020

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

artículo científico publicado en 2014

Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U- in Black Africans

scientific article published on 21 January 2020

Unbiased Characterization of Peptide-HLA Class II Interactions Based on Large-Scale Peptide Microarrays; Assessment of the Impact on HLA Class II Ligand and Epitope Prediction

scientific article published on 05 August 2020

Uncoupling of mucosal gene regulation, mRNA splicing and adherent microbiota signatures in inflammatory bowel disease.

artículo científico publicado en 2016

VarWatch-A stand-alone software tool for variant matching

artículo científico publicado en 2019

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

artículo científico publicado en 2019

Vedolizumab is associated with changes in innate rather than adaptive immunity in patients with inflammatory bowel disease

artículo científico publicado en 2018

Vy-PER: eliminating false positive detection of virus integration events in next generation sequencing data.

artículo científico publicado en 2015

Web-based NGS data analysis using miRMaster: a large-scale meta-analysis of human miRNAs

artículo científico publicado en 2017

Whither systems medicine?

artículo científico publicado en 2018

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

artículo científico publicado en 2014

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis

scientific article published on 27 July 2018

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

artículo científico publicado en 2015

Wnt signaling and Dupuytren's disease

artículo científico publicado en 2011

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

artículo científico publicado en 2017

XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease

artículo científico publicado en 2008

XIAP variants in male Crohn's disease.

artículo científico publicado en 2014

ZNF133 is associated with infliximab responsiveness in patients with inflammatory bowel diseases

artículo científico publicado en 2019

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

artículo científico publicado en 2017

miR-146b Probably Assists miRNA-146a in the Suppression of Keratinocyte Proliferation and Inflammatory Responses in Psoriasis

artículo científico publicado en 2017

miRNAs can be generally associated with human pathologies as exemplified for miR-144.

artículo científico publicado en 2014

miRNAs in Ancient Tissue Specimens of the Tyrolean Iceman.

artículo científico publicado en 2016

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