Lista de obras - Matthew Hurles - Dominio Público Uruguay

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

artículo científico publicado en 2014

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

artículo científico publicado en 2014

Accurate whole human genome sequencing using reversible terminator chemistry

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Bayesian refinement of association signals for 14 loci in 3 common diseases

artículo científico publicado en 2012

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

Characterizing genetic variants for clinical action

artículo científico publicado en 2014

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

artículo científico publicado en 2013

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

artículo científico publicado en 2011

Consent Codes: Upholding Standard Data Use Conditions

artículo científico publicado en 2016

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

artículo científico publicado en 2022

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

artículo científico publicado en 2014

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

artículo científico publicado en 2012

Deciphering past human population movements in Oceania: provably optimal trees of 127 mtDNA genomes

artículo científico publicado en 2006

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

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

artículo científico publicado en 2014

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

artículo científico publicado en 2017

Evidence for 28 genetic disorders discovered by combining healthcare and research data

artículo científico publicado en 2020

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

artículo científico publicado en 2015

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

artículo científico publicado en 2015

Fast-evolving noncoding sequences in the human genome

artículo científico publicado en 2007

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

artículo científico publicado en 2019

Gene duplication: the genomic trade in spare parts

artículo científico publicado en 2004

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history

artículo científico publicado en 2006

Genetic and chemotherapeutic influences on germline hypermutation

artículo científico publicado en 2022

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

scientific journal article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits

scientific journal article

Global variation in copy number in the human genome

artículo científico publicado en 2006

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

artículo científico publicado en 2014

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

artículo científico publicado en 2008

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

artículo científico publicado en 2010

Integrating common and rare genetic variation in diverse human populations

artículo científico publicado en 2010

Large, rare chromosomal deletions associated with severe early-onset obesity

artículo científico publicado en 2010

Male demography in East Asia: a north-south contrast in human population expansion times

artículo científico publicado en 2006

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

Mitochondrial DNA and the origins of the domestic horse

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Mosaic structural variation in children with developmental disorders

artículo científico publicado en 2015

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

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

Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots

artículo científico publicado en 2004

Paired-end mapping reveals extensive structural variation in the human genome

artículo científico publicado en 2007

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

artículo científico publicado en 2012

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

artículo científico publicado en 2014

Shotgun haplotyping: a novel method for surveying allelic sequence variation

artículo científico publicado en 2005

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

artículo científico publicado en 2007

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups

artículo científico publicado en 2011

The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages

artículo científico publicado en 2005

The genetic legacy of the Mongols

artículo científico publicado en 2003

The population genetics of structural variation

artículo científico publicado en 2007

Towards a comprehensive structural variation map of an individual human genome

artículo científico publicado en 2010

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Y chromosomal evidence for the origins of oceanic-speaking peoples

artículo científico publicado en 2002

Lista de obras de Matthew Hurles

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

Accurate whole human genome sequencing using reversible terminator chemistry

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

Bayesian refinement of association signals for 14 loci in 3 common diseases

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Characterizing genetic variants for clinical action

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Consent Codes: Upholding Standard Data Use Conditions

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Deciphering past human population movements in Oceania: provably optimal trees of 127 mtDNA genomes

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

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

Fast-evolving noncoding sequences in the human genome

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Gene duplication: the genomic trade in spare parts

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history

Genetic and chemotherapeutic influences on germline hypermutation

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits

Global variation in copy number in the human genome

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

Integrating common and rare genetic variation in diverse human populations

Large, rare chromosomal deletions associated with severe early-onset obesity

Male demography in East Asia: a north-south contrast in human population expansion times

Mapping copy number variation by population-scale genome sequencing

Mitochondrial DNA and the origins of the domestic horse

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

Mosaic structural variation in children with developmental disorders

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

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

Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots

Paired-end mapping reveals extensive structural variation in the human genome

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Shotgun haplotyping: a novel method for surveying allelic sequence variation

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

The DNA sequence of the human X chromosome

The Matchmaker Exchange: a platform for rare disease gene discovery

The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups

The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages

The genetic legacy of the Mongols

The population genetics of structural variation

Towards a comprehensive structural variation map of an individual human genome

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.

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

Y chromosomal evidence for the origins of oceanic-speaking peoples