Hurles, Matthew.
Matthew Hurles Head of Human Genetics and Senior Group Leader at the Wellcome Sanger Institute
Hurles, Matthew, 1974-
Hurles, Matthew E.
VIAF ID: 64253474 (Personal)
Permalink: http://viaf.org/viaf/64253474
Preferred Forms
- 200 _ | ‡a Hurles ‡b Matthew
- 100 1 _ ‡a Hurles, Matthew
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- 100 1 _ ‡a Hurles, Matthew
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- 100 1 _ ‡a Hurles, Matthew
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- 100 1 _ ‡a Hurles, Matthew, ‡d 1974-
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- 100 0 _ ‡a Matthew Hurles ‡c Head of Human Genetics and Senior Group Leader at the Wellcome Sanger Institute
4xx's: Alternate Name Forms (9)
Works
Title | Sources |
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Accurate whole human genome sequencing using reversible terminator chemistry | |
Bayesian refinement of association signals for 14 loci in 3 common diseases | |
Can the hypothesis of language/agricultural co-dispersal be tested with archaeogenetics? | |
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: 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 | |
The DNA sequence of the human X chromosome | |
The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages | |
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 | |
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 | |
The genetic legacy of the Mongols | |
A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes | |
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 | |
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects | |
Human evolutionary genetics : origins, peoples & disease | |
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 | |
An integrated map of genetic variation from 1,092 human genomes | |
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 | |
The Matchmaker Exchange: a platform for rare disease gene discovery | |
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 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 | |
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 | |
Towards a comprehensive structural variation map of an individual human genome | |
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 | |
VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants | |
Y chromosomal evidence for the origins of oceanic-speaking peoples | |
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups |