Lista de obras - Klaudia Walter - Dominio Público Uruguay

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

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Accurate whole human genome sequencing using reversible terminator chemistry

artículo científico publicado en 2008

An atlas of genetic influences on human blood metabolites

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

Demographic history and rare allele sharing among human populations

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Diversity of human copy number variation and multicopy genes

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Estimating genome-wide significance for whole-genome sequencing studies

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

artículo científico publicado en 2016

Highly conserved non-coding sequences are associated with vertebrate development

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

The 1000 Genomes Project: data management and community access

artículo científico publicado en 2012

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

artículo científico publicado en 2016

The influence of rare variants in circulating metabolic biomarkers

artículo científico publicado en 2020

The variant call format and VCFtools

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Whole-genome sequence-based analysis of thyroid function.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Lista de obras de 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