1. AHRO : Austin Health Research Online
  2. Austin Health research
  3. Journal articles
Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19302
Full metadata record
DC FieldValueLanguage
dc.contributor.authorStessman, Holly A F-
dc.contributor.authorXiong, Bo-
dc.contributor.authorCoe, Bradley P-
dc.contributor.authorWang, Tianyun-
dc.contributor.authorHoekzema, Kendra-
dc.contributor.authorFenckova, Michaela-
dc.contributor.authorKvarnung, Malin-
dc.contributor.authorGerdts, Jennifer-
dc.contributor.authorTrinh, Sandy-
dc.contributor.authorCosemans, Nele-
dc.contributor.authorVives, Laura-
dc.contributor.authorLin, Janice-
dc.contributor.authorTurner, Tychele N-
dc.contributor.authorSanten, Gijs-
dc.contributor.authorRuivenkamp, Claudia-
dc.contributor.authorKriek, Marjolein-
dc.contributor.authorvan Haeringen, Arie-
dc.contributor.authorAten, Emmelien-
dc.contributor.authorFriend, Kathryn-
dc.contributor.authorLiebelt, Jan-
dc.contributor.authorBarnett, Christopher-
dc.contributor.authorHaan, Eric-
dc.contributor.authorShaw, Marie-
dc.contributor.authorGecz, Jozef-
dc.contributor.authorAnderlid, Britt-Marie-
dc.contributor.authorNordgren, Ann-
dc.contributor.authorLindstrand, Anna-
dc.contributor.authorSchwartz, Charles-
dc.contributor.authorKooy, R Frank-
dc.contributor.authorVandeweyer, Geert-
dc.contributor.authorHelsmoortel, Celine-
dc.contributor.authorRomano, Corrado-
dc.contributor.authorAlberti, Antonino-
dc.contributor.authorVinci, Mirella-
dc.contributor.authorAvola, Emanuela-
dc.contributor.authorGiusto, Stefania-
dc.contributor.authorCourchesne, Eric-
dc.contributor.authorPramparo, Tiziano-
dc.contributor.authorPierce, Karen-
dc.contributor.authorNalabolu, Srinivasa-
dc.contributor.authorAmaral, David G-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorDelatycki, Martin B-
dc.contributor.authorLockhart, Paul J-
dc.contributor.authorHormozdiari, Fereydoun-
dc.contributor.authorHarich, Benjamin-
dc.contributor.authorCastells-Nobau, Anna-
dc.contributor.authorXia, Kun-
dc.contributor.authorPeeters, Hilde-
dc.contributor.authorNordenskjöld, Magnus-
dc.contributor.authorSchenck, Annette-
dc.contributor.authorBernier, Raphael A-
dc.contributor.authorEichler, Evan E-
dc.date2017-02-13-
dc.date.accessioned2018-09-13T00:24:45Z-
dc.date.available2018-09-13T00:24:45Z-
dc.date.issued2017-04-
dc.identifier.citationNature genetics 2017; 49(4): 515-526-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/19302-
dc.description.abstractGene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.-
dc.language.isoeng-
dc.titleTargeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.-
dc.typeJournal Article-
dc.identifier.journaltitleNature genetics-
dc.identifier.affiliationCenter for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USAen
dc.identifier.affiliationDepartment of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, USAen
dc.identifier.affiliationHoward Hughes Medical Institute, Seattle, Washington, USAen
dc.identifier.affiliationVictorian Clinical Genetics Services, Parkville, Victoria, Australiaen
dc.identifier.affiliationBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlandsen
dc.identifier.affiliationState Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Chinaen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington, Seattle, Washington, USAen
dc.identifier.affiliationDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USAen
dc.identifier.affiliationDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USAen
dc.identifier.affiliationMIND Institute and the University of California Davis School of Medicine, Sacramento, California, USAen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlandsen
dc.identifier.affiliationDepartment of Forensic Medicine and Institute of Brain Research, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Chinaen
dc.identifier.affiliationDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Swedenen
dc.identifier.affiliationDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Swedenen
dc.identifier.affiliationCentre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgiumen
dc.identifier.affiliationDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlandsen
dc.identifier.affiliationSchool of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australiaen
dc.identifier.affiliationGenetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australiaen
dc.identifier.affiliationSouth Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australiaen
dc.identifier.affiliationSouth Australian Health and Medical Research Institute, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgiumen
dc.identifier.affiliationUnit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italyen
dc.identifier.affiliationLaboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italyen
dc.identifier.affiliationUnit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italyen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australiaen
dc.identifier.doi10.1038/ng.3792-
dc.identifier.orcid0000-0002-0764-3493-
dc.identifier.orcid0000-0003-2531-8413en
dc.identifier.orcid0000-0002-2311-2174en
dc.identifier.orcid0000-0002-7884-6861-
dc.identifier.orcid0000-0003-2024-0485-
dc.identifier.orcid0000-0003-1049-0683-
dc.identifier.pubmedid28191889-
dc.type.austinJournal Article-
local.name.researcherDelatycki, Martin B
item.grantfulltextnone-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptClinical Genetics-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

38
checked on Nov 22, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.