Hurles, Matthew
Matthew Hurles leads a research group focused on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed from generation to generation.
I am fascinated by human genetic variation, its clinical impact, its underlying mutational origins and its potential to illuminate human prehistory.
I am dedicated to applying new genetic technologies to improve the diagnosis of patients with rare genetic conditions. I believe understanding the genetic causes of these disorders, and their underlying biological mechanisms, will give us fundamental insights into human development.
I lead the Deciphering Developmental Disorders (DDD) Study, a collaboration between 14,000 families with children with severe, undiagnosed developmental disorders, all 24 clinical genetic centres in the UK and Ireland, and the Wellcome Sanger Institute. Together we are understanding the diverse genetic landscape of these disorders, and applying this knowledge to achieve improved diagnostic testing.
I also lead the Prenatal Assessment of Genomes and Exomes (PAGE) Study, a collaboration between pregnant mothers and their partners, a network of UK Fetal Medicine Centres caring for these pregnant women and the Wellcome Sanger Institute. Together we are investigating the genetic causes of developmental anomalies that are identified during prenatal ultrasound screening, with the aim of improving the prognostic information that can be provided to parents.
The work of my research group has been characterized by rapid adoption of new technologies for assaying genetic variation, development of novel analytical strategies for making sense from large datasets and thoughtful application of these tools for advancing our understanding of human genetic diseases. More recently, our highly collaborative research has had increasing translational impact, resulting in genetic diagnoses for over a thousand children with previously undiagnosed developmental disorders, and leading to the founding of a start-up company (Congenica Ltd) to provide sustainable genetic diagnostic services to the NHS and other healthcare providers.
I believe we have a moral imperative to give patients and their families the opportunity to share their genetic data anonymously, to enable them to benefit from having the greatest possible number of researchers and clinicians analysing their data. Together with Helen Firth, I lead the DECIPHER initiative that is enabling rare disease patients to share anonymised genetic and clinical data globally.
My group is applying the latest technologies to edit the DNA of cells and model organisms to develop experimental models of newly identified genetic disorders that enable us to characterise the biology of the disorder, and to identiy opportunities for developing therapies.
Publications
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nature genetics 2015;47;11;1363-9
PUBMED: 26437029; DOI: 10.1038/ng.3410
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Large-scale discovery of novel genetic causes of developmental disorders.
Nature 2015;519;7542;223-8
PUBMED: 25533962; DOI: 10.1038/nature14135
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Rare variants in NR2F2 cause congenital heart defects in humans.
American journal of human genetics 2014;94;4;574-85
PUBMED: 24702954; PMC: 3980509; DOI: 10.1016/j.ajhg.2014.03.007
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Variation in genome-wide mutation rates within and between human families.
Nature genetics 2011;43;7;712-4
PUBMED: 21666693; PMC: 3322360; DOI: 10.1038/ng.862
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A map of human genome variation from population-scale sequencing.
Nature 2010;467;7319;1061-73
PUBMED: 20981092; PMC: 3042601; DOI: 10.1038/nature09534
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Nature 2010;464;7289;713-20
PUBMED: 20360734; PMC: 2892339; DOI: 10.1038/nature08979
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Origins and functional impact of copy number variation in the human genome.
Nature 2010;464;7289;704-12
PUBMED: 19812545; PMC: 3330748; DOI: 10.1038/nature08516
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Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010;463;7281;666-70
PUBMED: 19966786; PMC: 3108883; DOI: 10.1038/nature08689
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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
Nature genetics 2008;40;1;90-5
PUBMED: 18059269; PMC: 2669897; DOI: 10.1038/ng.2007.40
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Global variation in copy number in the human genome.
Nature 2006;444;7118;444-54
PUBMED: 17122850; PMC: 2669898; DOI: 10.1038/nature05329
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De novo mutations in regulatory elements in neurodevelopmental disorders.
Nature 2018
PUBMED: 29562236; DOI: 10.1038/nature25983
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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2018
PUBMED: 29323667; DOI: 10.1038/gim.2017.246
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Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome research 2017;27;10;1704-1714
PUBMED: 28855261; PMC: 5630034; DOI: 10.1101/gr.212373.116
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Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.
Nature communications 2017;8;1;303
PUBMED: 28827725; DOI: 10.1038/s41467-017-00323-y
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"Matching" consent to purpose: The example of the Matchmaker Exchange.
Human mutation 2017
PUBMED: 28699299; DOI: 10.1002/humu.23278
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell 2017;168;5;830-842.e7
PUBMED: 28235197; DOI: 10.1016/j.cell.2017.01.037
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Prevalence and architecture of de novo mutations in developmental disorders.
Nature 2017;542;7642;433-438
PUBMED: 28135719; DOI: 10.1038/nature21062
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
American journal of human genetics 2016;99;3;683-694
PUBMED: 27545674; PMC: 5010641; DOI: 10.1016/j.ajhg.2016.06.020
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nature genetics 2016;48;9;1060-5
PUBMED: 27479907; DOI: 10.1038/ng.3627
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Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives.
Prenatal diagnosis 2016
PUBMED: 27550507; DOI: 10.1002/pd.4916
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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS genetics 2016;12;4;e1005963
PUBMED: 27058611; PMC: 4825975; DOI: 10.1371/journal.pgen.1005963
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nature neuroscience 2016;19;4;571-7
PUBMED: 26974950; DOI: 10.1038/nn.4267
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Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
American journal of medical genetics. Part A 2016;170;3;670-5
PUBMED: 26842493; DOI: 10.1002/ajmg.a.37476
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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
Genetics in medicine : official journal of the American College of Medical Genetics 2016;18;2;189-98
PUBMED: 25996639; DOI: 10.1038/gim.2015.60
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Timing, rates and spectra of human germline mutation.
Nature genetics 2016;48;2;126-133
PUBMED: 26656846; PMC: 4731925; DOI: 10.1038/ng.3469
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
European journal of human genetics : EJHG 2016;24;1;21-9
PUBMED: 25920556; PMC: 4795240; DOI: 10.1038/ejhg.2015.58
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Consent Codes: Upholding Standard Data Use Conditions.
PLoS genetics 2016;12;1;e1005772
PUBMED: 26796797; PMC: 4721915; DOI: 10.1371/journal.pgen.1005772
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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Human mutation 2015;36;12;1197-204
PUBMED: 26350204; PMC: 4833192; DOI: 10.1002/humu.22901
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nature genetics 2015;47;11;1363-9
PUBMED: 26437029; DOI: 10.1038/ng.3410
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A global reference for human genetic variation.
Nature 2015;526;7571;68-74
PUBMED: 26432245; PMC: 4750478; DOI: 10.1038/nature15393
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The Matchmaker Exchange: a platform for rare disease gene discovery.
Human mutation 2015;36;10;915-21
PUBMED: 26295439; PMC: 4610002; DOI: 10.1002/humu.22858
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The UK10K project identifies rare variants in health and disease.
Nature 2015;526;7571;82-90
PUBMED: 26367797; PMC: 4773891; DOI: 10.1038/nature14962
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Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
Human mutation 2015;36;10;941-9
PUBMED: 26220709; PMC: 4832335; DOI: 10.1002/humu.22842
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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
The Journal of clinical investigation 2015;125;8;3051-62
PUBMED: 26168268; PMC: 4623570; DOI: 10.1172/JCI79860
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Potential research participants support the return of raw sequence data.
Journal of medical genetics 2015;52;8;571-4
PUBMED: 25995218; PMC: 4518751; DOI: 10.1136/jmedgenet-2015-103119
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain : a journal of neurology 2015;138;Pt 8;2173-90
PUBMED: 26070982; PMC: 4511861; DOI: 10.1093/brain/awv153
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Copy number variation in the human Y chromosome in the UK population.
Human genetics 2015;134;7;789-800
PUBMED: 25957587; PMC: 4460274; DOI: 10.1007/s00439-015-1562-5
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Mosaic structural variation in children with developmental disorders.
Human molecular genetics 2015;24;10;2733-45
PUBMED: 25634561; PMC: 4406290; DOI: 10.1093/hmg/ddv033
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Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Neurology 2015;84;17;1745-50
PUBMED: 25832664; PMC: 4424132; DOI: 10.1212/WNL.0000000000001523
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet (London, England) 2015;385;9975;1305-14
PUBMED: 25529582; PMC: 4392068; DOI: 10.1016/S0140-6736(14)61705-0
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No expectation to share incidental findings in genomic research.
Lancet (London, England) 2015;385;9975;1289-90
PUBMED: 25529584; DOI: 10.1016/S0140-6736(14)62119-X
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Absence of heterozygosity due to template switching during replicative rearrangements.
American journal of human genetics 2015;96;4;555-64
PUBMED: 25799105; PMC: 4385179; DOI: 10.1016/j.ajhg.2015.01.021
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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
The Journal of clinical investigation 2015;125;4;1670-8
PUBMED: 25705886; PMC: 4396464; DOI: 10.1172/JCI79765
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The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.
Nature communications 2015;6;6684
PUBMED: 25809527; PMC: 4389250; DOI: 10.1038/ncomms7684
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Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.
Human molecular genetics 2015;24;6;1774-90
PUBMED: 25424174; PMC: 4381751; DOI: 10.1093/hmg/ddu581
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Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
Nature communications 2015;6;7256
PUBMED: 26028266; PMC: 4451611; DOI: 10.1038/ncomms8256
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Prenatal exome sequencing for fetuses with structural abnormalities: the next step.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015;45;1;4-9
PUBMED: 25157891; DOI: 10.1002/uog.14653
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Using population data for assessing next-generation sequencing performance.
Bioinformatics (Oxford, England) 2015;31;1;56-61
PUBMED: 25236458; PMC: 4271148; DOI: 10.1093/bioinformatics/btu606
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Nature genetics 2014;46;12;1283-92
PUBMED: 25344692; PMC: 4676084; DOI: 10.1038/ng.3122
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Exome Sequencing in Fetuses with Structural Malformations.
Journal of clinical medicine 2014;3;3;747-62
PUBMED: 26237476; PMC: 4449643; DOI: 10.3390/jcm3030747
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Cis and trans effects of human genomic variants on gene expression.
PLoS genetics 2014;10;7;e1004461
PUBMED: 25010687; PMC: 4091791; DOI: 10.1371/journal.pgen.1004461
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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Human molecular genetics 2014;23;12;3269-77
PUBMED: 24476948; PMC: 4030780; DOI: 10.1093/hmg/ddu038
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
American journal of human genetics 2014;94;6;915-23
PUBMED: 24906020; PMC: 4121478; DOI: 10.1016/j.ajhg.2014.05.005
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De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
American journal of human genetics 2014;94;4;618-24
PUBMED: 24680889; PMC: 3980521; DOI: 10.1016/j.ajhg.2014.03.006
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Rare variants in NR2F2 cause congenital heart defects in humans.
American journal of human genetics 2014;94;4;574-85
PUBMED: 24702954; PMC: 3980509; DOI: 10.1016/j.ajhg.2014.03.007
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Genome research 2014;24;4;673-87
PUBMED: 24356988; PMC: 3975066; DOI: 10.1101/gr.160465.113
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The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
PLoS genetics 2014;10;3;e1004195
PUBMED: 24603440; PMC: 3945173; DOI: 10.1371/journal.pgen.1004195
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Characterizing genetic variants for clinical action.
American journal of medical genetics. Part C, Seminars in medical genetics 2014;166C;1;93-104
PUBMED: 24634402; PMC: 4158437; DOI: 10.1002/ajmg.c.31386
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Reciprocal duplication of the williams-beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Biological psychiatry 2014;75;5;371-7
PUBMED: 23871472; PMC: 3838485; DOI: 10.1016/j.biopsych.2013.05.040
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Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
American journal of human genetics 2014;94;2;295-302
PUBMED: 24462371; PMC: 3928658; DOI: 10.1016/j.ajhg.2014.01.001
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nature genetics 2014;46;2;188-93
PUBMED: 24336167; DOI: 10.1038/ng.2851
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Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
American journal of human genetics 2014;94;1;87-94
PUBMED: 24239382; PMC: 3882725; DOI: 10.1016/j.ajhg.2013.10.001
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A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.
PLoS genetics 2014;10;5;e1004367
PUBMED: 24875393; PMC: 4038470; DOI: 10.1371/journal.pgen.1004367
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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.
Nucleic acids research 2014;42;Database issue;D993-D1000
PUBMED: 24150940; PMC: 3965078; DOI: 10.1093/nar/gkt937
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Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Genome biology 2014;15;9;423
PUBMED: 25315429; PMC: 4180961; DOI: 10.1186/s13059-014-0423-1
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Extreme growth failure is a common presentation of ligase IV deficiency.
Human mutation 2014;35;1;76-85
PUBMED: 24123394; PMC: 3995017; DOI: 10.1002/humu.22461
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High throughput exome coverage of clinically relevant cardiac genes.
BMC medical genomics 2014;7;67
PUBMED: 25496018; PMC: 4272796; DOI: 10.1186/s12920-014-0067-8
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COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
JAMA neurology 2013;70;12;1556-61
PUBMED: 24100867; DOI: 10.1001/jamaneurol.2013.3242
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain : a journal of neurology 2013;136;Pt 12;3618-24
PUBMED: 24103911; PMC: 3859217; DOI: 10.1093/brain/awt270
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Reduced burden of very large and rare CNVs in bipolar affective disorder.
Bipolar disorders 2013;15;8;893-8
PUBMED: 24127788; DOI: 10.1111/bdi.12125
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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.
American journal of human genetics 2013;93;5;932-44
PUBMED: 24183451; PMC: 3824113; DOI: 10.1016/j.ajhg.2013.10.003
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DeNovoGear: de novo indel and point mutation discovery and phasing.
Nature methods 2013;10;10;985-7
PUBMED: 23975140; PMC: 4003501; DOI: 10.1038/nmeth.2611
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Cerebral organoids model human brain development and microcephaly.
Nature 2013;501;7467;373-9
PUBMED: 23995685; PMC: 3817409; DOI: 10.1038/nature12517
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
American journal of human genetics 2013;93;2;197-210
PUBMED: 23810381; PMC: 3738832; DOI: 10.1016/j.ajhg.2013.05.027
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Empirical research on the ethics of genomic research.
American journal of medical genetics. Part A 2013;161A;8;2099-101
PUBMED: 23813698; PMC: 3884757; DOI: 10.1002/ajmg.a.36067
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
American journal of human genetics 2013;93;1;29-41
PUBMED: 23768512; PMC: 3710768; DOI: 10.1016/j.ajhg.2013.05.009
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NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.
Cell reports 2013
PUBMED: 23746447; DOI: 10.1016/j.celrep.2013.05.005
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Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice.
Disease models & mechanisms 2013;6;3;562-6
PUBMED: 23519034; PMC: 3634640; DOI: 10.1242/dmm.011957
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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Nature genetics 2013;45;5;513-7
PUBMED: 23563609; PMC: 4106235; DOI: 10.1038/ng.2607
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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Human mutation 2013;34;5;714-24
PUBMED: 23418020; PMC: 4226634; DOI: 10.1002/humu.22294
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
American journal of human genetics 2013;92;3;354-65
PUBMED: 23453667; PMC: 3591840; DOI: 10.1016/j.ajhg.2013.01.016
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Quantifying single nucleotide variant detection sensitivity in exome sequencing.
BMC bioinformatics 2013;14;195
PUBMED: 23773188; PMC: 3695811; DOI: 10.1186/1471-2105-14-195
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Bayesian refinement of association signals for 14 loci in 3 common diseases.
Nature genetics 2012;44;12;1294-301
PUBMED: 23104008; PMC: 3791416; DOI: 10.1038/ng.2435
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An integrated map of genetic variation from 1,092 human genomes.
Nature 2012;491;7422;56-65
PUBMED: 23128226; PMC: 3498066; DOI: 10.1038/nature11632
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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Human molecular genetics 2012;21;R1;R37-44
PUBMED: 22962312; PMC: 3459644; DOI: 10.1093/hmg/dds362
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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
American journal of human genetics 2012;91;4;672-84
PUBMED: 23022101; PMC: 3484652; DOI: 10.1016/j.ajhg.2012.08.016
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A map of human genome variation from population-scale sequencing.
Nature 2010;467;7319;1061-73
PUBMED: 20981092; PMC: 3042601; DOI: 10.1038/nature09534
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Characterising and predicting haploinsufficiency in the human genome.
PLoS genetics 2010;6;10;e1001154
PUBMED: 20976243; PMC: 2954820; DOI: 10.1371/journal.pgen.1001154
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Integrating common and rare genetic variation in diverse human populations.
Nature 2010;467;7311;52-8
PUBMED: 20811451; PMC: 3173859; DOI: 10.1038/nature09298
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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Nature genetics 2010;42;5;385-91
PUBMED: 20364136; PMC: 3428939; DOI: 10.1038/ng.564
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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Nature genetics 2010;42;5;400-5
PUBMED: 20364138; PMC: 3329635; DOI: 10.1038/ng.555
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Nature 2010;464;7289;713-20
PUBMED: 20360734; PMC: 2892339; DOI: 10.1038/nature08979
-
Origins and functional impact of copy number variation in the human genome.
Nature 2010;464;7289;704-12
PUBMED: 19812545; PMC: 3330748; DOI: 10.1038/nature08516
-
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010;463;7281;666-70
PUBMED: 19966786; PMC: 3108883; DOI: 10.1038/nature08689
-
Accurate whole human genome sequencing using reversible terminator chemistry.
Nature 2008;456;7218;53-9
PUBMED: 18987734; PMC: 2581791; DOI: 10.1038/nature07517
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Copy number variation and evolution in humans and chimpanzees.
Genome research 2008;18;11;1698-710
PUBMED: 18775914; PMC: 2577862; DOI: 10.1101/gr.082016.108
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A robust statistical method for case-control association testing with copy number variation.
Nature genetics 2008;40;10;1245-52
PUBMED: 18776912; PMC: 2784596; DOI: 10.1038/ng.206
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Adaptive evolution of UGT2B17 copy-number variation.
American journal of human genetics 2008;83;3;337-46
PUBMED: 18760392; PMC: 2556428; DOI: 10.1016/j.ajhg.2008.08.004
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Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.
Nucleic acids research 2008;36;13;e82
PUBMED: 18562465; PMC: 2490767; DOI: 10.1093/nar/gkn373
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
Nature genetics 2008;40;6;722-9
PUBMED: 18438408; PMC: 2705838; DOI: 10.1038/ng.128
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The functional impact of structural variation in humans.
Trends in genetics : TIG 2008;24;5;238-45
PUBMED: 18378036; PMC: 2869026; DOI: 10.1016/j.tig.2008.03.001
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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
Nature genetics 2008;40;1;90-5
PUBMED: 18059269; PMC: 2669897; DOI: 10.1038/ng.2007.40
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Paired-end mapping reveals extensive structural variation in the human genome.
Science (New York, N.Y.) 2007;318;5849;420-6
PUBMED: 17901297; PMC: 2674581; DOI: 10.1126/science.1149504
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The population genetics of structural variation.
Nature genetics 2007;39;7 Suppl;S30-6
PUBMED: 17597779; PMC: 2716079; DOI: 10.1038/ng2042
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Challenges and standards in integrating surveys of structural variation.
Nature genetics 2007;39;7 Suppl;S7-15
PUBMED: 17597783; PMC: 2698291; DOI: 10.1038/ng2093
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Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Science (New York, N.Y.) 2007;315;5813;848-53
PUBMED: 17289997; PMC: 2665772; DOI: 10.1126/science.1136678
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Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.
Genome biology 2007;8;10;R228
PUBMED: 17961237; PMC: 2246302; DOI: 10.1186/gb-2007-8-10-r228
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Accurate and reliable high-throughput detection of copy number variation in the human genome.
Genome research 2006;16;12;1566-74
PUBMED: 17122085; PMC: 1665640; DOI: 10.1101/gr.5630906
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Genome assembly comparison identifies structural variants in the human genome.
Nature genetics 2006;38;12;1413-8
PUBMED: 17115057; PMC: 2674632; DOI: 10.1038/ng1921
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Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Genome research 2006;16;12;1575-84
PUBMED: 17122084; PMC: 1665641; DOI: 10.1101/gr.5629106
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Global variation in copy number in the human genome.
Nature 2006;444;7118;444-54
PUBMED: 17122850; PMC: 2669898; DOI: 10.1038/nature05329
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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
American journal of human genetics 2006;79;5;890-902
PUBMED: 17033965; PMC: 1698570; DOI: 10.1086/508709
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Assaying chromosomal inversions by single-molecule haplotyping.
Nature methods 2006;3;6;439-45
PUBMED: 16721377; PMC: 2690135; DOI: 10.1038/nmeth881
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Male demography in East Asia: a north-south contrast in human population expansion times.
Genetics 2006;172;4;2431-9
PUBMED: 16489223; PMC: 1456369; DOI: 10.1534/genetics.105.054270
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A high-resolution survey of deletion polymorphism in the human genome.
Nature genetics 2006;38;1;75-81
PUBMED: 16327808; DOI: 10.1038/ng1697
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Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.
PLoS genetics 2006;2;1;e9
PUBMED: 16440057; PMC: 1331980; DOI: 10.1371/journal.pgen.0020009
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Recombination hotspots in nonallelic homologous recombination
Genomic Disorders: The Genomic Basis of Disease 2006;Chapter 24;341-355
DOI: 10.1007/978-1-59745-039-3_24; URL: http://link.springer.com/chapter.../10.1007/978-1-59745-039-3_24#page-1
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Y-chromosomal rearrangements and azoospermia
Genomic Disorders: The Genomic Basis of Disease 2006;19;273-288
DOI: 10.1007/978-1-59745-039-3_19; URL: http://link.springer.com/chapter.../10.1007/978-1-59745-039-3_19#page-1
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Shotgun haplotyping: a novel method for surveying allelic sequence variation.
Nucleic acids research 2005;33;18;e152
PUBMED: 16221968; PMC: 1253838; DOI: 10.1093/nar/gni152
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How homologous recombination generates a mutable genome.
Human genomics 2005;2;3;179-86
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The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages.
American journal of human genetics 2005;76;5;894-901
PUBMED: 15793703; PMC: 1199379; DOI: 10.1086/430051
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Don't mix radiocarbon and calendar years.
Nature 2005;434;7034;697
PUBMED: 15815601; DOI: 10.1038/434697c
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The DNA sequence of the human X chromosome.
Nature 2005;434;7031;325-37
PUBMED: 15772651; PMC: 2665286; DOI: 10.1038/nature03440
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Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots.
Genome biology 2004;5;8;R55
PUBMED: 15287977; PMC: 507880; DOI: 10.1186/gb-2004-5-8-r55