Hurles Group | Genomic mutation and genetic disease

Hurles Group | Genomic mutation and genetic disease

Hurles Group

hurles.jpgSanger Institute, Genome Research Limited

Our Research and Approach

We study the genetic causes and biological mechanisms of rare conditions resulting from impaired development. We also study how DNA mutates as it is passed from one generation to the next, and the factors that influence the number and type of mutations that arise. We are a multi-disciplinary group of molecular biologists, bioinformaticians and computational geneticists.

People

Hurles, Matthew
Dr Matthew Hurles
Group Leader

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.

Short, Patrick

Short, Patrick
Patrick Short
PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine

Key Projects, Collaborations, Tools & Data

Here are some of the outputs of the team.

Research Programmes

Partners and Funders

Internal Partners
External Partners and Funders

Publications

  • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M et al.

    Nature genetics 2015;47;11;1363-9

  • Large-scale discovery of novel genetic causes of developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2015;519;7542;223-8

  • Rare variants in NR2F2 cause congenital heart defects in humans.

    Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP et al.

    American journal of human genetics 2014;94;4;574-85

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

    Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y et al.

    Nature genetics 2011;43;7;712-4

  • A map of human genome variation from population-scale sequencing.

    1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD et al.

    Nature 2010;467;7319;1061-73

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

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD et al.

    Nature 2010;464;7289;713-20

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

    Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O et al.

    Nature 2010;464;7289;704-12

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

    Bochukova EG, Huang N, Keogh J, Henning E, Purmann C et al.

    Nature 2010;463;7281;666-70

  • Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.

    Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP et al.

    Nature genetics 2008;40;1;90-5

  • Global variation in copy number in the human genome.

    Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH et al.

    Nature 2006;444;7118;444-54

  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

    Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF et al.

    Lancet (London, England) 2015;385;9975;1305-14

  • Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

    Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME et al.

    European journal of human genetics : EJHG 2016;24;1;21-9

  • Mosaic structural variation in children with developmental disorders.

    King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA et al.

    Human molecular genetics 2015;24;10;2733-45

  • The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.

    Adewoye AB, Lindsay SJ, Dubrova YE and Hurles ME

    Nature communications 2015;6;6684

  • The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

    MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R et al.

    PLoS genetics 2014;10;3;e1004195

  • Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

    Carss KJ, Hillman SC, Parthiban V, McMullan DJ, Maher ER et al.

    Human molecular genetics 2014;23;12;3269-77

  • Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

    Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF et al.

    Human mutation 2015;36;10;941-9

  • Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

    Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L et al.

    Nature genetics 2010;42;5;385-91

  • A robust statistical method for case-control association testing with copy number variation.

    Barnes C, Plagnol V, Fitzgerald T, Redon R, Marchini J et al.

    Nature genetics 2008;40;10;1245-52

  • "Matching" consent to purpose: The example of the Matchmaker Exchange.

    Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M et al.

    Human mutation 2017

  • An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

    Liu P, Yuan B, Carvalho CM, Wuster A, Walter K et al.

    Cell 2017;168;5;830-842.e7

  • Prevalence and architecture of de novo mutations in developmental disorders.

    Deciphering Developmental Disorders Study

    Nature 2017;542;7642;433-438

  • Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

    Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T et al.

    American journal of human genetics 2016;99;3;683-94

  • Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH et al.

    Nature genetics 2016;48;9;1060-5

  • Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives.

    Quinlan-Jones E, Kilby MD, Greenfield S, Parker M, McMullan D et al.

    Prenatal diagnosis 2016

  • De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

    Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R et al.

    PLoS genetics 2016;12;4;e1005963

  • Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

    Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L et al.

    Nature neuroscience 2016;19;4;571-7

  • Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

    Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH et al.

    American journal of medical genetics. Part A 2016;170;3;670-5

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

    D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2016;18;2;189-98

  • Timing, rates and spectra of human germline mutation.

    Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB et al.

    Nature genetics 2016;48;2;126-133

  • Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

    Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME et al.

    European journal of human genetics : EJHG 2016;24;1;21-9

  • Consent Codes: Upholding Standard Data Use Conditions.

    Dyke SO, Philippakis AA, Rambla De Argila J, Paltoo DN, Luetkemeier ES et al.

    PLoS genetics 2016;12;1;e1005772

  • Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

    Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J et al.

    Human mutation 2015;36;12;1197-204

  • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M et al.

    Nature genetics 2015;47;11;1363-9

  • A global reference for human genetic variation.

    1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP et al.

    Nature 2015;526;7571;68-74

  • The Matchmaker Exchange: a platform for rare disease gene discovery.

    Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA et al.

    Human mutation 2015;36;10;915-21

  • The UK10K project identifies rare variants in health and disease.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L et al.

    Nature 2015;526;7571;82-90

  • Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

    Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF et al.

    Human mutation 2015;36;10;941-9

  • B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

    Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ et al.

    The Journal of clinical investigation 2015;125;8;3051-62

  • Potential research participants support the return of raw sequence data.

    Middleton A, Wright CF, Morley KI, Bragin E, Firth HV et al.

    Journal of medical genetics 2015;52;8;571-4

  • Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

    Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P et al.

    Brain : a journal of neurology 2015;138;Pt 8;2173-90

  • Copy number variation in the human Y chromosome in the UK population.

    Wei W, Fitzgerald TW, Fitzgerald T, Ayub Q, Massaia A et al.

    Human genetics 2015;134;7;789-800

  • Mosaic structural variation in children with developmental disorders.

    King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA et al.

    Human molecular genetics 2015;24;10;2733-45

  • Loss of PCLO function underlies pontocerebellar hypoplasia type III.

    Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A et al.

    Neurology 2015;84;17;1745-50

  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

    Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF et al.

    Lancet (London, England) 2015;385;9975;1305-14

  • No expectation to share incidental findings in genomic research.

    Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME et al.

    Lancet (London, England) 2015;385;9975;1289-90

  • Absence of heterozygosity due to template switching during replicative rearrangements.

    Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW et al.

    American journal of human genetics 2015;96;4;555-64

  • Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

    Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY et al.

    The Journal of clinical investigation 2015;125;4;1670-8

  • The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline.

    Adewoye AB, Lindsay SJ, Dubrova YE and Hurles ME

    Nature communications 2015;6;6684

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

    Cooper NJ, Shtir CJ, Smyth DJ, Guo H, Swafford AD et al.

    Human molecular genetics 2015;24;6;1774-90

  • Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.

    Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM et al.

    Nature communications 2015;6;7256

  • Prenatal exome sequencing for fetuses with structural abnormalities: the next step.

    Hillman SC, Willams D, Carss KJ, McMullan DJ, Hurles ME and Kilby MD

    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015;45;1;4-9

  • Using population data for assessing next-generation sequencing performance.

    Houniet DT, Rahman TJ, Al Turki S, Hurles ME, Xu Y et al.

    Bioinformatics (Oxford, England) 2015;31;1;56-61

  • Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

    Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS et al.

    Nature genetics 2014;46;12;1283-92

  • Exome Sequencing in Fetuses with Structural Malformations.

    Mackie FL, Carss KJ, Hillman SC, Hurles ME and Kilby MD

    Journal of clinical medicine 2014;3;3;747-62

  • Cis and trans effects of human genomic variants on gene expression.

    Bryois J, Buil A, Evans DM, Kemp JP, Montgomery SB et al.

    PLoS genetics 2014;10;7;e1004461

  • Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

    Carss KJ, Hillman SC, Parthiban V, McMullan DJ, Maher ER et al.

    Human molecular genetics 2014;23;12;3269-77

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

    Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L et al.

    American journal of human genetics 2014;94;6;915-23

  • De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

    Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H et al.

    American journal of human genetics 2014;94;4;618-24

  • Rare variants in NR2F2 cause congenital heart defects in humans.

    Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP et al.

    American journal of human genetics 2014;94;4;574-85

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

    King DA, Fitzgerald TW, Miller R, Canham N, Clayton-Smith J et al.

    Genome research 2014;24;4;673-87

  • The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

    MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R et al.

    PLoS genetics 2014;10;3;e1004195

  • Characterizing genetic variants for clinical action.

    Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A et al.

    American journal of medical genetics. Part C, Seminars in medical genetics 2014;166C;1;93-104

  • Reciprocal duplication of the williams-beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.

    Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF et al.

    Biological psychiatry 2014;75;5;371-7

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

    Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A et al.

    American journal of human genetics 2014;94;2;295-302

  • Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

    Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S et al.

    Nature genetics 2014;46;2;188-93

  • Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

    Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE et al.

    American journal of human genetics 2014;94;1;87-94

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

    Zanda M, Onengut-Gumuscu S, Walker N, Shtir C, Gallo D et al.

    PLoS genetics 2014;10;5;e1004367

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

    Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV et al.

    Nucleic acids research 2014;42;Database issue;D993-D1000

  • Deletions of chromosomal regulatory boundaries are associated with congenital disease.

    Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N et al.

    Genome biology 2014;15;9;423

  • Extreme growth failure is a common presentation of ligase IV deficiency.

    Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M et al.

    Human mutation 2014;35;1;76-85

  • High throughput exome coverage of clinically relevant cardiac genes.

    Manase D, D'Alessandro LC, Manickaraj AK, Al Turki S, Hurles ME and Mital S

    BMC medical genomics 2014;7;67

  • COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

    Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M et al.

    JAMA neurology 2013;70;12;1556-61

  • Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

    Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R et al.

    Brain : a journal of neurology 2013;136;Pt 12;3618-24

  • Reduced burden of very large and rare CNVs in bipolar affective disorder.

    Grozeva D, Kirov G, Conrad DF, Barnes CP, Hurles M et al.

    Bipolar disorders 2013;15;8;893-8

  • Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.

    Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM et al.

    American journal of human genetics 2013;93;5;932-44

  • DeNovoGear: de novo indel and point mutation discovery and phasing.

    Ramu A, Noordam MJ, Schwartz RS, Wuster A, Hurles ME et al.

    Nature methods 2013;10;10;985-7

  • Cerebral organoids model human brain development and microcephaly.

    Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS et al.

    Nature 2013;501;7467;373-9

  • TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

    Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C et al.

    American journal of human genetics 2013;93;2;197-210

  • Empirical research on the ethics of genomic research.

    Middleton A, Parker M, Wright CF, Bragin E, Hurles ME and DDD Study

    American journal of medical genetics. Part A 2013;161A;8;2099-101

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

    Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M et al.

    American journal of human genetics 2013;93;1;29-41

  • NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

    Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S et al.

    Cell reports 2013

  • Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice.

    Mohun T, Adams DJ, Baldock R, Bhattacharya S, Copp AJ et al.

    Disease models & mechanisms 2013;6;3;562-6

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

    Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S et al.

    Nature genetics 2013;45;5;513-7

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

    Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA et al.

    Human mutation 2013;34;5;714-24

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

    Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S et al.

    American journal of human genetics 2013;92;3;354-65

  • Quantifying single nucleotide variant detection sensitivity in exome sequencing.

    Meynert AM, Bicknell LS, Hurles ME, Jackson AP and Taylor MS

    BMC bioinformatics 2013;14;195

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

    Wellcome Trust Case Control Consortium, Maller JB, McVean G, Byrnes J, Vukcevic D et al.

    Nature genetics 2012;44;12;1294-301

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

    1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA et al.

    Nature 2012;491;7422;56-65

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

    Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP et al.

    Human molecular genetics 2012;21;R1;R37-44

  • Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

    Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT et al.

    American journal of human genetics 2012;91;4;672-84

  • A map of human genome variation from population-scale sequencing.

    1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD et al.

    Nature 2010;467;7319;1061-73

  • Characterising and predicting haploinsufficiency in the human genome.

    Huang N, Lee I, Marcotte EM and Hurles ME

    PLoS genetics 2010;6;10;e1001154

  • Integrating common and rare genetic variation in diverse human populations.

    International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM et al.

    Nature 2010;467;7311;52-8

  • Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

    Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L et al.

    Nature genetics 2010;42;5;385-91

  • Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

    Park H, Kim JI, Ju YS, Gokcumen O, Mills RE et al.

    Nature genetics 2010;42;5;400-5

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

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD et al.

    Nature 2010;464;7289;713-20

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

    Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O et al.

    Nature 2010;464;7289;704-12

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

    Bochukova EG, Huang N, Keogh J, Henning E, Purmann C et al.

    Nature 2010;463;7281;666-70

  • Accurate whole human genome sequencing using reversible terminator chemistry.

    Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J et al.

    Nature 2008;456;7218;53-9

  • Copy number variation and evolution in humans and chimpanzees.

    Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T et al.

    Genome research 2008;18;11;1698-710

  • A robust statistical method for case-control association testing with copy number variation.

    Barnes C, Plagnol V, Fitzgerald T, Redon R, Marchini J et al.

    Nature genetics 2008;40;10;1245-52

  • Adaptive evolution of UGT2B17 copy-number variation.

    Xue Y, Sun D, Daly A, Yang F, Zhou X et al.

    American journal of human genetics 2008;83;3;337-46

  • Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.

    Turner DJ, Tyler-Smith C and Hurles ME

    Nucleic acids research 2008;36;13;e82

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

    Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H et al.

    Nature genetics 2008;40;6;722-9

  • The functional impact of structural variation in humans.

    Hurles ME, Dermitzakis ET and Tyler-Smith C

    Trends in genetics : TIG 2008;24;5;238-45

  • Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.

    Turner DJ, Miretti M, Rajan D, Fiegler H, Carter NP et al.

    Nature genetics 2008;40;1;90-5

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

    Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F et al.

    Science (New York, N.Y.) 2007;318;5849;420-6

  • The population genetics of structural variation.

    Conrad DF and Hurles ME

    Nature genetics 2007;39;7 Suppl;S30-6

  • Challenges and standards in integrating surveys of structural variation.

    Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE et al.

    Nature genetics 2007;39;7 Suppl;S7-15

  • Relative impact of nucleotide and copy number variation on gene expression phenotypes.

    Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C et al.

    Science (New York, N.Y.) 2007;315;5813;848-53

  • Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

    Marioni JC, Thorne NP, Valsesia A, Fitzgerald T, Redon R et al.

    Genome biology 2007;8;10;R228

  • Accurate and reliable high-throughput detection of copy number variation in the human genome.

    Fiegler H, Redon R, Andrews D, Scott C, Andrews R et al.

    Genome research 2006;16;12;1566-74

  • Genome assembly comparison identifies structural variants in the human genome.

    Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM et al.

    Nature genetics 2006;38;12;1413-8

  • Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.

    Komura D, Shen F, Ishikawa S, Fitch KR, Chen W et al.

    Genome research 2006;16;12;1575-84

  • Global variation in copy number in the human genome.

    Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH et al.

    Nature 2006;444;7118;444-54

  • A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.

    Lindsay SJ, Khajavi M, Lupski JR and Hurles ME

    American journal of human genetics 2006;79;5;890-902

  • Assaying chromosomal inversions by single-molecule haplotyping.

    Turner DJ, Shendure J, Porreca G, Church G, Green P et al.

    Nature methods 2006;3;6;439-45

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

    Xue Y, Zerjal T, Bao W, Zhu S, Shu Q et al.

    Genetics 2006;172;4;2431-9

  • A high-resolution survey of deletion polymorphism in the human genome.

    Conrad DF, Andrews TD, Carter NP, Hurles ME and Pritchard JK

    Nature genetics 2006;38;1;75-81

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

    Traherne JA, Horton R, Roberts AN, Miretti MM, Hurles ME et al.

    PLoS genetics 2006;2;1;e9

  • Recombination hotspots in nonallelic homologous recombination

    HURLES,M.E. and Lupski,J.R.;

    Genomic Disorders: The Genomic Basis of Disease 2006;Chapter 24;341-355

  • Y-chromosomal rearrangements and azoospermia

    Hurles,M.E. and Tyler-Smith,C.

    Genomic Disorders: The Genomic Basis of Disease 2006;19;273-288

  • Shotgun haplotyping: a novel method for surveying allelic sequence variation.

    Lindsay SJ, Bonfield JK and Hurles ME

    Nucleic acids research 2005;33;18;e152

  • How homologous recombination generates a mutable genome.

    Hurles M

    Human genomics 2005;2;3;179-86

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

    Hurles ME, Sykes BC, Jobling MA and Forster P

    American journal of human genetics 2005;76;5;894-901

  • Don't mix radiocarbon and calendar years.

    Tyler-Smith C, Hurles ME and Jobling MA

    Nature 2005;434;7034;697

  • The DNA sequence of the human X chromosome.

    Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K et al.

    Nature 2005;434;7031;325-37

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

    Hurles ME, Willey D, Matthews L and Hussain SS

    Genome biology 2004;5;8;R55