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dc.contributor.authorMartin, Hilary C.
dc.contributor.authorGardner, Eugene J.
dc.contributor.authorSamocha, Kaitlin E.
dc.contributor.authorKaplanis, Joanna
dc.contributor.authorAkawi, Nadia
dc.contributor.authorSifrim, Alejandro
dc.contributor.authorEberhardt, Ruth Y.
dc.contributor.authorTavares, Ana Lisa Taylor
dc.contributor.authorNeville, Matthew D. C.
dc.contributor.authorNiemi, Mari E. K.
dc.contributor.authorGallone, Giuseppe
dc.contributor.authorMcRae, Jeremy
dc.contributor.authorWright, Caroline F.
dc.contributor.authorFitzPatrick, David R.
dc.contributor.authorFirth, Helen V.
dc.contributor.authorHurles, Matthew E.
dc.contributor.authorBorras, Silvia
dc.contributor.authorClark, Caroline
dc.contributor.authorDean, John
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorRoss, Alison
dc.contributor.authorTennant, Stephen
dc.contributor.authorDabir, Tabib
dc.contributor.authorDonnelly, Deirdre
dc.contributor.authorHumphreys, Mervyn
dc.contributor.authorMagee, Alex
dc.contributor.authorMcConnell, Vivienne
dc.contributor.authorMcKee, Shane
dc.contributor.authorMcNerlan, Susan
dc.contributor.authorMorrison, Patrick J.
dc.contributor.authorRea, Gillian
dc.contributor.authorStewart, Fiona
dc.contributor.authorCole, Trevor
dc.contributor.authorCooper, Nicola
dc.contributor.authorCooper-Charles, Lisa
dc.contributor.authorCox, Helen
dc.contributor.authorIslam, Lily
dc.contributor.authorJarvis, Joanna
dc.contributor.authorKeelagher, Rebecca
dc.contributor.authorLim, Derek
dc.contributor.authorMcMullan, Dominic
dc.contributor.authorMorton, Jenny
dc.contributor.authorNaik, Swati
dc.contributor.authorO’Driscoll, Mary
dc.contributor.authorOng, Kai-Ren
dc.contributor.authorOsio, Deborah
dc.contributor.authorRagge, Nicola
dc.contributor.authorTurton, Sarah
dc.contributor.authorVogt, Julie
dc.contributor.authorWilliams, Denise
dc.contributor.authorBodek, Simon
dc.contributor.authorDonaldson, Alan
dc.contributor.authorHills, Alison
dc.contributor.authorLow, Karen
dc.contributor.authorNewbury-Ecob, Ruth
dc.contributor.authorNorman, Andrew M.
dc.contributor.authorRoberts, Eileen
dc.contributor.authorScurr, Ingrid
dc.contributor.authorSmithson, Sarah
dc.contributor.authorTooley, Madeleine
dc.contributor.authorAbbs, Steve
dc.contributor.authorArmstrong, Ruth
dc.contributor.authorDunn, Carolyn
dc.contributor.authorHolden, Simon
dc.contributor.authorPark, Soo-Mi
dc.contributor.authorPaterson, Joan
dc.contributor.authorRaymond, Lucy
dc.contributor.authorReid, Evan
dc.contributor.authorSandford, Richard
dc.contributor.authorSimonic, Ingrid
dc.contributor.authorTischkowitz, Marc
dc.contributor.authorWoods, Geoff
dc.contributor.authorBradley, Lisa
dc.contributor.authorComerford, Joanne
dc.contributor.authorGreen, Andrew
dc.contributor.authorLynch, Sally
dc.contributor.authorMcQuaid, Shirley
dc.contributor.authorMullaney, Brendan
dc.contributor.authorBerg, Jonathan
dc.contributor.authorGoudie, David
dc.contributor.authorMavrak, Eleni
dc.contributor.authorMcLean, Joanne
dc.contributor.authorMcWilliam, Catherine
dc.contributor.authorReavey, Eleanor
dc.contributor.authorAzam, Tara
dc.contributor.authorCleary, Elaine
dc.contributor.authorJackson, Andrew
dc.contributor.authorLam, Wayne
dc.contributor.authorLampe, Anne
dc.contributor.authorMoore, David
dc.contributor.authorPorteous, Mary
dc.contributor.authorBaple, Emma
dc.contributor.authorBaptista, Júlia
dc.contributor.authorBrewer, Carole
dc.contributor.authorCastle, Bruce
dc.contributor.authorKivuva, Emma
dc.contributor.authorOwens, Martina
dc.contributor.authorRankin, Julia
dc.contributor.authorShaw-Smith, Charles
dc.contributor.authorTurner, Claire
dc.contributor.authorTurnpenny, Peter
dc.contributor.authorTysoe, Carolyn
dc.contributor.authorBradley, Therese
dc.contributor.authorDavidson, Rosemarie
dc.contributor.authorGardiner, Carol
dc.contributor.authorJoss, Shelagh
dc.contributor.authorKinning, Esther
dc.contributor.authorLongman, Cheryl
dc.contributor.authorMcGowan, Ruth
dc.contributor.authorMurday, Victoria
dc.contributor.authorPilz, Daniela
dc.contributor.authorTobias, Edward
dc.contributor.authorWhiteford, Margo
dc.contributor.authorWilliams, Nicola
dc.contributor.authorBarnicoat, Angela
dc.contributor.authorClement, Emma
dc.contributor.authorFaravelli, Francesca
dc.contributor.authorHurst, Jane
dc.contributor.authorJenkins, Lucy
dc.contributor.authorJones, Wendy
dc.contributor.authorKumar, V.K.Ajith
dc.contributor.authorLees, Melissa
dc.contributor.authorLoughlin, Sam
dc.contributor.authorMale, Alison
dc.contributor.authorMorrogh, Deborah
dc.contributor.authorRosser, Elisabeth
dc.contributor.authorScott, Richard
dc.contributor.authorWilson, Louise
dc.contributor.authorBeleza, Ana
dc.contributor.authorDeshpande, Charu
dc.contributor.authorFlinter, Frances
dc.contributor.authorHolder, Muriel
dc.contributor.authorIrving, Melita
dc.contributor.authorIzatt, Louise
dc.contributor.authorJosifova, Dragana
dc.contributor.authorMohammed, Shehla
dc.contributor.authorMolenda, Aneta
dc.contributor.authorRobert, Leema
dc.contributor.authorRoworth, Wendy
dc.contributor.authorRuddy, Deborah
dc.contributor.authorRyten, Mina
dc.contributor.authorYau, Shu
dc.contributor.authorBennett, Christopher
dc.contributor.authorBlyth, Moira
dc.contributor.authorCampbell, Jennifer
dc.contributor.authorCoates, Andrea
dc.contributor.authorDobbie, Angus
dc.contributor.authorHewitt, Sarah
dc.contributor.authorHobson, Emma
dc.contributor.authorJackson, Eilidh
dc.contributor.authorJewell, Rosalyn
dc.contributor.authorKraus, Alison
dc.contributor.authorPrescott, Katrina
dc.contributor.authorSheridan, Eamonn
dc.contributor.authorThomson, Jenny
dc.contributor.authorBradshaw, Kirsty
dc.contributor.authorDixit, Abhijit
dc.contributor.authorEason, Jacqueline
dc.contributor.authorHaines, Rebecca
dc.contributor.authorHarrison, Rachel
dc.contributor.authorMutch, Stacey
dc.contributor.authorSarkar, Ajoy
dc.contributor.authorSearle, Claire
dc.contributor.authorShannon, Nora
dc.contributor.authorSharif, Abid
dc.contributor.authorSuri, Mohnish
dc.contributor.authorVasudevan, Pradeep
dc.contributor.authorCanham, Natalie
dc.contributor.authorEllis, Ian
dc.contributor.authorGreenhalgh, Lynn
dc.contributor.authorHoward, Emma
dc.contributor.authorStinton, Victoria
dc.contributor.authorSwale, Andrew
dc.contributor.authorWeber, Astrid
dc.contributor.authorBanka, Siddharth
dc.contributor.authorBreen, Catherine
dc.contributor.authorBriggs, Tracy
dc.contributor.authorBurkitt-Wright, Emma
dc.contributor.authorChandler, Kate
dc.contributor.authorClayton-Smith, Jill
dc.contributor.authorDonnai, Dian
dc.contributor.authorDouzgou, Sofia
dc.contributor.authorGaunt, Lorraine
dc.contributor.authorJones, Elizabeth
dc.contributor.authorKerr, Bronwyn
dc.contributor.authorLangley, Claire
dc.contributor.authorMetcalfe, Kay
dc.contributor.authorSmith, Audrey
dc.contributor.authorWright, Ronnie
dc.contributor.authorBourn, David
dc.contributor.authorBurn, John
dc.contributor.authorFisher, Richard
dc.contributor.authorHellens, Steve
dc.contributor.authorHenderson, Alex
dc.contributor.authorMontgomery, Tara
dc.contributor.authorSplitt, Miranda
dc.contributor.authorStraub, Volker
dc.contributor.authorWright, Michael
dc.contributor.authorZwolinski, Simon
dc.contributor.authorAllen, Zoe
dc.contributor.authorBernhard, Birgitta
dc.contributor.authorBrady, Angela
dc.contributor.authorBrooks, Claire
dc.contributor.authorBusby, Louise
dc.contributor.authorClowes, Virginia
dc.contributor.authorGhali, Neeti
dc.contributor.authorHolder, Susan
dc.contributor.authorIbitoye, Rita
dc.contributor.authorWakeling, Emma
dc.contributor.authorBlair, Edward
dc.contributor.authorCarmichael, Jenny
dc.contributor.authorCilliers, Deirdre
dc.contributor.authorClasper, Susan
dc.contributor.authorGibbons, Richard
dc.contributor.authorKini, Usha
dc.contributor.authorLester, Tracy
dc.contributor.authorNemeth, Andrea
dc.contributor.authorPoulton, Joanna
dc.contributor.authorPrice, Sue
dc.contributor.authorShears, Debbie
dc.contributor.authorStewart, Helen
dc.contributor.authorWilkie, Andrew
dc.contributor.authorAlbaba, Shadi
dc.contributor.authorBaker, Duncan
dc.contributor.authorBalasubramanian, Meena
dc.contributor.authorJohnson, Diana
dc.contributor.authorParker, Michael
dc.contributor.authorQuarrell, Oliver
dc.contributor.authorStewart, Alison
dc.contributor.authorWilloughby, Josh
dc.contributor.authorCrosby, Charlene
dc.contributor.authorElmslie, Frances
dc.contributor.authorHomfray, Tessa
dc.contributor.authorJin, Huilin
dc.contributor.authorLahiri, Nayana
dc.contributor.authorMansour, Sahar
dc.contributor.authorMarks, Karen
dc.contributor.authorMcEntagart, Meriel
dc.contributor.authorSaggar, Anand
dc.contributor.authorTatton-Brown, Kate
dc.contributor.authorButler, Rachel
dc.contributor.authorClarke, Angus
dc.contributor.authorCorrin, Sian
dc.contributor.authorFry, Andrew
dc.contributor.authorKamath, Arveen
dc.contributor.authorMcCann, Emma
dc.contributor.authorMugalaasi, Hood
dc.contributor.authorPottinger, Caroline
dc.contributor.authorProcter, Annie
dc.contributor.authorSampson, Julian
dc.contributor.authorSansbury, Francis
dc.contributor.authorVarghese, Vinod
dc.contributor.authorBaralle, Diana
dc.contributor.authorCallaway, Alison
dc.contributor.authorCassidy, Emma J.
dc.contributor.authorDaniels, Stacey
dc.contributor.authorDouglas, Andrew
dc.contributor.authorFoulds, Nicola
dc.contributor.authorHunt, David
dc.contributor.authorKharbanda, Mira
dc.contributor.authorLachlan, Katherine
dc.contributor.authorMercer, Catherine
dc.contributor.authorSide, Lucy
dc.contributor.authorTemple, I. Karen
dc.contributor.authorWellesley, Diana
dc.date.accessioned2021-01-27T16:15:33Z
dc.date.available2021-01-27T16:15:33Z
dc.date.issued2021-01-27
dc.date.submitted2020-03-16
dc.identifier.others41467-020-20852-3
dc.identifier.other20852
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/316775
dc.description.abstractAbstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/208/205
dc.subject/631/208/1516
dc.subject/631/208/366
dc.subject/49/23
dc.subjectarticle
dc.titleThe contribution of X-linked coding variation to severe developmental disorders
dc.typeArticle
dc.date.updated2021-01-27T16:15:32Z
prism.issueIdentifier1
prism.publicationNameNature Communications
prism.volume12
dc.identifier.doi10.17863/CAM.63889
dcterms.dateAccepted2020-12-08
rioxxterms.versionofrecord10.1038/s41467-020-20852-3
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidMartin, Hilary C. [0000-0002-4454-9084]
dc.contributor.orcidGardner, Eugene J. [0000-0001-9671-1533]
dc.contributor.orcidSamocha, Kaitlin E. [0000-0002-1704-3352]
dc.contributor.orcidEberhardt, Ruth Y. [0000-0001-6152-1369]
dc.contributor.orcidTavares, Ana Lisa Taylor [0000-0001-7089-0502]
dc.contributor.orcidNeville, Matthew D. C. [0000-0001-5816-7936]
dc.contributor.orcidNiemi, Mari E. K. [0000-0003-0696-6175]
dc.contributor.orcidWright, Caroline F. [0000-0003-2958-5076]
dc.contributor.orcidHurles, Matthew E. [0000-0002-2333-7015]
dc.identifier.eissn2041-1723


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)