List of works by Christian Fuchsberger

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article

A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.

scientific article published in April 2018

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

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

scientific article published on 31 May 2019

A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell

scientific article published on 16 January 2014

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies

scientific article published on 11 September 2015

Anterior gradient 2 and 3--two prototype androgen-responsive genes transcriptionally upregulated by androgens and by oestrogens in prostate cancer cells.

scientific article published on 13 February 2013

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

CUBN is a gene locus for albuminuria

scientific article

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

scientific article

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

scientific article published on 8 November 2011

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

scientific article

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

scientific article

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

scientific article published on 12 September 2013

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

scientific article published on 30 October 2017

Copy number variation and association over T-cell receptor genes--influence of DNA source

scientific article published on 26 June 2010

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

scientific article published on 25 April 2013

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

scientific article published on 26 May 2017

Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees

scientific article

Differential gene expression analysis of ovarian cancer in a population isolate.

scientific article published in January 2008

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

scientific article

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.

scientific article published on 18 March 2010

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

scientific article published on 21 November 2017

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

scientific article

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

scientific article (publication date: 22 July 2012)

Fertility pattern and family structure in three Alpine settlements in South Tyrol (italy): marriage cohorts from 1750 to 1949.

scientific article

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes

scientific article published on 2 October 2012

GWAtoolbox: an R package for fast quality control and handling of genome-wide association studies meta-analysis data

scientific article

Genes predict village of origin in rural Europe

scientific article

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

scientific article

Genetic association studies for gene expressions: permutation-based mutual information in a comparison with standard ANOVA and as a novel approach for feature selection

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 fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

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 sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

scientific article

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2019

Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

scientific article published on 13 October 2017

Genotype imputation in genome-wide association studies

scientific article published on July 2013

Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction

scientific article published on 24 September 2010

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

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

scientific article published on 14 April 2013

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

scientific article published on 21 February 2018

Improving power for rare-variant tests by integrating external controls

scientific article

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies

scholarly article by Genevieve L Wojcik published in October 2018

Independent test assessment using the extreme value distribution theory

scientific article published on 18 October 2016

Influence of blood sampling on protein profiling and pattern analysis using matrix-assisted laser desorption/ionisation mass spectrometry

scientific article

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

scientific article published on 8 September 2012

Jenti: an efficient tool for mining complex inbred genealogies.

scientific article published on 24 January 2008

Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27.

scientific article published on 20 June 2011

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

scientific article

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

scientific article published on 12 September 2016

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

scientific article

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol

scientific article

New loci associated with kidney function and chronic kidney disease

scientific article

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

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

scientific article

OR05-1 Genetic Discovery and Translational Decision Support from Exome Sequencing of 45,231 Type 2 Diabetes Cases and Controls from Five Ancestries.

scientific article

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

scientific article

PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees

scientific article

Prosaposin is a regulator of progranulin levels and oligomerization

scientific article published on 30 June 2016

Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol

scientific article published on 12 October 2021

Proteomics profiling of microdissected low- and high-grade prostate tumors identifies Lamin A as a discriminatory biomarker

scientific article

Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites

scientific article

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

scientific article published on 30 January 2014

Reference-based phasing using the Haplotype Reference Consortium panel

scientific article published on 03 October 2016

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations

scientific article published on 09 June 2020

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

scientific article published on 02 October 2019

The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

scientific article

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease

scientific article published on 23 April 2015

Use of Chromatographic (SPE-HPLC) and Spectrophotometric Methods for Differentiation of Salix Species Through Correlation Analysis and FreeViz Projection.

scientific article published on 29 November 2010

Visual Analytical Methods to Identify Family Clustered Diseases

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

miR-22 and miR-29a Are Members of the Androgen Receptor Cistrome Modulating LAMC1 and Mcl-1 in Prostate Cancer.

scientific article published on 8 June 2015

minimac2: faster genotype imputation

scientific article

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud

scientific article

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