List of works - Klaudia Walter

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A systematic survey of loss-of-function variants in human protein-coding genes

scientific article (publication date: 17 February 2012)

Accurate whole human genome sequencing using reversible terminator chemistry

scientific article

An atlas of genetic influences on human blood metabolites

scientific article

An integrated map of genetic variation from 1,092 human genomes

scientific article

An integrated map of structural variation in 2,504 human genomes

scientific article

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

scientific article published in Nature Communications

Characterisation of conserved non-coding sequences in vertebrate genomes using bioinformatics, statistics and functional studies

scientific article

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

scientific article published in Nature Communications

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

scientific article published on 13 October 2009

Demographic history and rare allele sharing among human populations

scientific article

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

scientific article published on 26 September 2016

Diversity of human copy number variation and multicopy genes

scientific article

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Estimating genome-wide significance for whole-genome sequencing studies

scientific article published on 14 February 2014

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Factors affecting human IgE and IgG responses to allergen-like Schistosoma mansoni antigens: Molecular structure and patterns of in vivo exposure

scientific article

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

scientific article published on 28 January 2019

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

scientific article

Highly conserved non-coding sequences are associated with vertebrate development

scientific article published on 11 November 2004

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

scientific article

Increased human IgE induced by killing Schistosoma mansoni in vivo is associated with pretreatment Th2 cytokine responsiveness to worm antigens

scientific article published on October 2006

Increases in human T helper 2 cytokine responses to Schistosoma mansoni worm and worm-tegument antigens are induced by treatment with praziquantel

scientific article published on 12 July 2004

Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article

Mapping copy number variation by population-scale genome sequencing

scientific article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

scientific article published in October 2012

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

scientific article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Parallel evolution of conserved non-coding elements that target a common set of developmental regulatory genes from worms to humans

scientific article published on January 2007

Population-wide copy number variation calling using variant call format files from 6,898 individuals

Some statistical properties of regulatory DNA sequences, and their use in predicting regulatory regions in the Drosophila genome: the fluffy-tail test

scientific article

Striking nucleotide frequency pattern at the borders of highly conserved vertebrate non-coding sequences

The 1000 Genomes Project: data management and community access

scientific article (publication date: 27 April 2012)

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

scientific article

The influence of rare variants in circulating metabolic biomarkers

scientific article published on 09 March 2020

The variant call format and VCFtools

scientific article (publication date: August 2011)

Variation in genome-wide mutation rates within and between human families

scientific article

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-genome sequence-based analysis of thyroid function.

scientific article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

scientific article published on February 2017

List of works by Klaudia Walter

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

A reference panel of 64,976 haplotypes for genotype imputation

A systematic survey of loss-of-function variants in human protein-coding genes

Accurate whole human genome sequencing using reversible terminator chemistry

An atlas of genetic influences on human blood metabolites

An integrated map of genetic variation from 1,092 human genomes

An integrated map of structural variation in 2,504 human genomes

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Characterisation of conserved non-coding sequences in vertebrate genomes using bioinformatics, statistics and functional studies

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

Demographic history and rare allele sharing among human populations

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

Diversity of human copy number variation and multicopy genes

Erratum: Whole-genome sequence-based analysis of thyroid function

Estimating genome-wide significance for whole-genome sequencing studies

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Factors affecting human IgE and IgG responses to allergen-like Schistosoma mansoni antigens: Molecular structure and patterns of in vivo exposure

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Highly conserved non-coding sequences are associated with vertebrate development

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

Increased human IgE induced by killing Schistosoma mansoni in vivo is associated with pretreatment Th2 cytokine responsiveness to worm antigens

Increases in human T helper 2 cytokine responses to Schistosoma mansoni worm and worm-tegument antigens are induced by treatment with praziquantel

Integrative annotation of variants from 1092 humans: application to cancer genomics

Mapping copy number variation by population-scale genome sequencing

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Origins and functional impact of copy number variation in the human genome

Parallel evolution of conserved non-coding elements that target a common set of developmental regulatory genes from worms to humans

Population-wide copy number variation calling using variant call format files from 6,898 individuals

Some statistical properties of regulatory DNA sequences, and their use in predicting regulatory regions in the Drosophila genome: the fluffy-tail test

Striking nucleotide frequency pattern at the borders of highly conserved vertebrate non-coding sequences

The 1000 Genomes Project: data management and community access

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

The influence of rare variants in circulating metabolic biomarkers

The variant call format and VCFtools

Variation in genome-wide mutation rates within and between human families

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Whole-genome sequence-based analysis of thyroid function.

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom