List of works - Matthew Hurles

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

scientific article

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

scientific article

Accurate whole human genome sequencing using reversible terminator chemistry

scientific article

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

scientific article

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

scientific article published on 28 October 2012

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Characterizing genetic variants for clinical action

scientific article

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

scientific article

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

scientific article (publication date: 8 May 2011)

Consent Codes: Upholding Standard Data Use Conditions

scientific article

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

scientific article published on 10 February 2022

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article

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

scientific article published on 21 August 2017

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

scientific article published on 14 October 2020

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

scientific article published on 21 May 2015

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

scientific article

Fast-evolving noncoding sequences in the human genome

scientific article

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

scientific article published on 30 May 2019

Gene duplication: the genomic trade in spare parts

scientific article

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

scientific article

Genetic and chemotherapeutic influences on germline hypermutation

scientific article published on 11 May 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

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

scientific article

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

scientific article

Mapping copy number variation by population-scale genome sequencing

scientific article

Mitochondrial DNA and the origins of the domestic horse

scientific article

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

scientific article

Mosaic structural variation in children with developmental disorders

scientific article

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

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)

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

scientific article

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

scientific article

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

scientific article

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Shotgun haplotyping: a novel method for surveying allelic sequence variation

scientific article

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

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

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

scientific article (publication date: February 2011)

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

scientific article

The genetic legacy of the Mongols

scientific article

The population genetics of structural variation

scientific article (publication date: July 2007)

Towards a comprehensive structural variation map of an individual human genome

scientific article

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.

scientific article

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

scientific article

Y chromosomal evidence for the origins of oceanic-speaking peoples

scientific article

List of works by 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