Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12389
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dc.contributor.authorCoe, Bradley Pen
dc.contributor.authorWitherspoon, Kalien
dc.contributor.authorRosenfeld, Jill Aen
dc.contributor.authorvan Bon, Bregje W Men
dc.contributor.authorVulto-van Silfhout, Anneke Ten
dc.contributor.authorBosco, Paoloen
dc.contributor.authorFriend, Kathryn Len
dc.contributor.authorBaker, Carlen
dc.contributor.authorBuono, Serafinoen
dc.contributor.authorVissers, Lisenka E L Men
dc.contributor.authorSchuurs-Hoeijmakers, Janneke Hen
dc.contributor.authorHoischen, Alexen
dc.contributor.authorPfundt, Rolphen
dc.contributor.authorKrumm, Niken
dc.contributor.authorCarvill, Gemma Len
dc.contributor.authorLi, Deanaen
dc.contributor.authorAmaral, Daviden
dc.contributor.authorBrown, Natashaen
dc.contributor.authorLockhart, Paul Jen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorAlberti, Antoninoen
dc.contributor.authorShaw, Marieen
dc.contributor.authorPettinato, Rosaen
dc.contributor.authorTervo, Raymonden
dc.contributor.authorde Leeuw, Nicoleen
dc.contributor.authorReijnders, Margot R Fen
dc.contributor.authorTorchia, Beth Sen
dc.contributor.authorPeeters, Hildeen
dc.contributor.authorO'Roak, Brian Jen
dc.contributor.authorFichera, Marcoen
dc.contributor.authorHehir-Kwa, Jayne Yen
dc.contributor.authorShendure, Jayen
dc.contributor.authorMefford, Heather Cen
dc.contributor.authorHaan, Ericen
dc.contributor.authorGécz, Jozefen
dc.contributor.authorde Vries, Bert B Aen
dc.contributor.authorRomano, Corradoen
dc.contributor.authorEichler, Evan Een
dc.date.accessioned2015-05-16T02:04:58Z-
dc.date.available2015-05-16T02:04:58Z-
dc.date.issued2014-09-14en
dc.identifier.citationNature Genetics 2014; 46(10): 1063-71en
dc.identifier.govdoc25217958en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12389en
dc.description.abstractCopy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.en
dc.language.isoenen
dc.subject.otherAutistic Disorder.geneticsen
dc.subject.otherBase Sequenceen
dc.subject.otherCarrier Proteins.geneticsen
dc.subject.otherChilden
dc.subject.otherChromosome Mappingen
dc.subject.otherComparative Genomic Hybridizationen
dc.subject.otherDNA Copy Number Variationsen
dc.subject.otherDevelopmental Disabilities.geneticsen
dc.subject.otherFemaleen
dc.subject.otherGenetic Association Studiesen
dc.subject.otherGenetic Predisposition to Disease.geneticsen
dc.subject.otherHaploinsufficiency.geneticsen
dc.subject.otherHumansen
dc.subject.otherIntellectual Disability.geneticsen
dc.subject.otherMaleen
dc.subject.otherMolecular Sequence Dataen
dc.subject.otherNuclear Proteins.geneticsen
dc.subject.otherPolymorphism, Single Nucleotideen
dc.subject.otherSequence Analysis, DNAen
dc.titleRefining analyses of copy number variation identifies specific genes associated with developmental delay.en
dc.typeJournal Articleen
dc.identifier.journaltitleNature geneticsen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USAen
dc.identifier.affiliationDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.en
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationLeuven Autism Research (LAuRes), Leuven, Belgium.en
dc.identifier.affiliationCenter for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.en
dc.identifier.affiliationSA Pathology, North Adelaide, South Australia, Australiaen
dc.identifier.affiliationBarwon Child Health Unit, Barwon Health, Geelong, Victoria, Australiaen
dc.identifier.affiliationMurdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationFlorey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationSA Pathology, North Adelaide, South Australia, Australiaen
dc.identifier.affiliationRobinson Institute, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationIRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.en
dc.identifier.affiliationHoward Hughes Medical Institute, Seattle, Washington, USAen
dc.identifier.affiliationSignature Genomics Laboratories, LLC, PerkinElmer, Inc., Spokane, Washington, USAen
dc.identifier.affiliationSA Pathology, North Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, Washington, USAen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USAen
dc.identifier.affiliationDivision of Developmental and Behavioral Pediatrics, Mayo Clinic, Rochester, Minnesota, USAen
dc.identifier.affiliationRepresenting the Autism Phenome Project, MIND Institute, University of California, Davis, Sacramento, California, USAen
dc.identifier.affiliationSchool of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.en
dc.identifier.affiliationIRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.en
dc.identifier.doi10.1038/ng.3092en
dc.description.pages1063-71en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/25217958en
dc.type.austinJournal Articleen
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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