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/1/25074
Full metadata record
DC FieldValueLanguage
dc.contributor.authorWang, Tianyun-
dc.contributor.authorHoekzema, Kendra-
dc.contributor.authorVecchio, Davide-
dc.contributor.authorWu, Huidan-
dc.contributor.authorSulovari, Arvis-
dc.contributor.authorCoe, Bradley P-
dc.contributor.authorGillentine, Madelyn A-
dc.contributor.authorWilfert, Amy B-
dc.contributor.authorPerez-Jurado, Luis A-
dc.contributor.authorKvarnung, Malin-
dc.contributor.authorSleyp, Yoeri-
dc.contributor.authorEarl, Rachel K-
dc.contributor.authorRosenfeld, Jill A-
dc.contributor.authorGeisheker, Madeleine R-
dc.contributor.authorHan, Lin-
dc.contributor.authorDu, Bing-
dc.contributor.authorBarnett, Chris-
dc.contributor.authorThompson, Elizabeth-
dc.contributor.authorShaw, Marie-
dc.contributor.authorCarroll, Renee-
dc.contributor.authorFriend, Kathryn-
dc.contributor.authorCatford, Rachael-
dc.contributor.authorPalmer, Elizabeth E-
dc.contributor.authorZou, Xiaobing-
dc.contributor.authorOu, Jianjun-
dc.contributor.authorLi, Honghui-
dc.contributor.authorGuo, Hui-
dc.contributor.authorGerdts, Jennifer-
dc.contributor.authorAvola, Emanuela-
dc.contributor.authorCalabrese, Giuseppe-
dc.contributor.authorElia, Maurizio-
dc.contributor.authorGreco, Donatella-
dc.contributor.authorLindstrand, Anna-
dc.contributor.authorNordgren, Ann-
dc.contributor.authorAnderlid, Britt-Marie-
dc.contributor.authorVandeweyer, Geert-
dc.contributor.authorVan Dijck, Anke-
dc.contributor.authorVan der Aa, Nathalie-
dc.contributor.authorMcKenna, Brooke-
dc.contributor.authorHancarova, Miroslava-
dc.contributor.authorBendova, Sarka-
dc.contributor.authorHavlovicova, Marketa-
dc.contributor.authorMalerba, Giovanni-
dc.contributor.authorBernardina, Bernardo Dalla-
dc.contributor.authorMuglia, Pierandrea-
dc.contributor.authorvan Haeringen, Arie-
dc.contributor.authorHoffer, Mariette J V-
dc.contributor.authorFranke, Barbara-
dc.contributor.authorCappuccio, Gerarda-
dc.contributor.authorDelatycki, Martin B-
dc.contributor.authorLockhart, Paul J-
dc.contributor.authorManning, Melanie A-
dc.contributor.authorLiu, Pengfei-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBrunetti-Pierri, Nicola-
dc.contributor.authorRommelse, Nanda-
dc.contributor.authorAmaral, David G-
dc.contributor.authorSanten, Gijs W E-
dc.contributor.authorTrabetti, Elisabetta-
dc.contributor.authorSedláček, Zdeněk-
dc.contributor.authorMichaelson, Jacob J-
dc.contributor.authorPierce, Karen-
dc.contributor.authorCourchesne, Eric-
dc.contributor.authorKooy, R Frank-
dc.contributor.authorNordenskjöld, Magnus-
dc.contributor.authorRomano, Corrado-
dc.contributor.authorPeeters, Hilde-
dc.contributor.authorBernier, Raphael A-
dc.contributor.authorGecz, Jozef-
dc.contributor.authorXia, Kun-
dc.contributor.authorEichler, Evan E-
dc.date2020-10-01-
dc.date.accessioned2020-10-15T03:17:14Z-
dc.date.available2020-10-15T03:17:14Z-
dc.date.issued2020-10-01-
dc.identifier.citationNature Communications 2020; 11(1): 4932en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/25074-
dc.description.abstractMost genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.en
dc.language.isoeng
dc.titleLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.en
dc.typeJournal Articleen
dc.identifier.journaltitleNature Communicationsen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationDivision of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USAen
dc.identifier.affiliationGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italyen
dc.identifier.affiliationPaediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australiaen
dc.identifier.affiliationSouth Australian Health and Medical Research Institute, Adelaide, SA, Australiaen
dc.identifier.affiliationGenetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spainen
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.affiliationDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USAen
dc.identifier.affiliationBaylor Genetics, Houston, TX, USAen
dc.identifier.affiliationGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australiaen
dc.identifier.affiliationAdelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australiaen
dc.identifier.affiliationGenetics of Learning Disability Service, Hunter New England Health Service, Waratah, NSW, Australiaen
dc.identifier.affiliationSchool of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australiaen
dc.identifier.affiliationDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlandsen
dc.identifier.affiliationDepartment of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlandsen
dc.identifier.affiliationDepartment of Translational Medicine, Federico II University, Naples, Italyen
dc.identifier.affiliationTelethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italyen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australiaen
dc.identifier.affiliationMedicine (University of Melbourne)en
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australiaen
dc.identifier.affiliationRare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italyen
dc.identifier.affiliationDepartment of Pathology, Stanford University, Stanford, CA, USAen
dc.identifier.affiliationDepartment of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlandsen
dc.identifier.affiliationKarakter Child and Adolescent Psychiatry Center, Nijmegen, Netherlandsen
dc.identifier.affiliationCenter for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, Chinaen
dc.identifier.affiliationCAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, Chinaen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationHoward Hughes Medical Institute, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australiaen
dc.identifier.affiliationCenter for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, Chinaen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationCentre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgiumen
dc.identifier.affiliationDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationCenter for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, Chinaen
dc.identifier.affiliationChildren Development Behavior Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, Chinaen
dc.identifier.affiliationMental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Chinaen
dc.identifier.affiliationKey Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Chinaen
dc.identifier.affiliationCenter for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, Chinaen
dc.identifier.affiliationDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationOasi Research Institute-IRCCS, Troina, Italyen
dc.identifier.affiliationDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgiumen
dc.identifier.affiliationDepartment of Psychology, Emory University, Atlanta, GA, USAen
dc.identifier.affiliationDepartment of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republicen
dc.identifier.affiliationDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italyen
dc.identifier.affiliationChild Neuropsychiatry Unit, AOUI, Verona, Italyen
dc.identifier.affiliationUCB Pharma, Bruxelles, Belgiumen
dc.identifier.affiliationDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlandsen
dc.identifier.affiliationDepartment of Psychiatry and Behavioral Sciences and the MIND Institute, University of California, Davis, Sacramento, CA, USAen
dc.identifier.affiliationDepartment of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlandsen
dc.identifier.affiliationDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italyen
dc.identifier.affiliationDepartment of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republicen
dc.identifier.affiliationDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USAen
dc.identifier.affiliationDepartment of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USAen
dc.identifier.affiliationDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgiumen
dc.identifier.affiliationOasi Research Institute-IRCCS, Troina, Italyen
dc.identifier.affiliationCentre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgiumen
dc.identifier.affiliationDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USAen
dc.identifier.doi10.1038/s41467-020-18723-yen
dc.type.contentTexten
dc.identifier.orcid0000-0002-5179-087Xen
dc.identifier.orcid0000-0003-2907-3206en
dc.identifier.orcid0000-0003-4354-9020en
dc.identifier.orcid0000-0002-8989-2214en
dc.identifier.orcid0000-0001-5664-7987en
dc.identifier.orcid0000-0002-4166-3236en
dc.identifier.orcid0000-0002-1570-2545en
dc.identifier.orcid0000-0003-0806-5602en
dc.identifier.orcid0000-0003-3285-4281en
dc.identifier.orcid0000-0002-6713-2943en
dc.identifier.orcid0000-0002-1812-7670en
dc.identifier.orcid0000-0003-4375-6572en
dc.identifier.orcid0000-0003-2531-8413en
dc.identifier.orcid0000-0002-4177-709Xen
dc.identifier.orcid0000-0002-6895-8819en
dc.identifier.orcid0000-0001-9713-0992en
dc.identifier.orcid0000-0002-3772-5799en
dc.identifier.orcid0000-0003-2024-0485en
dc.identifier.orcid0000-0003-1049-0683en
dc.identifier.orcid0000-0002-7884-6861en
dc.identifier.orcid0000-0001-8090-6002en
dc.identifier.orcid0000-0002-8246-4014en
dc.identifier.pubmedid33004838
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.deptClinical Genetics-
crisitem.author.deptEpilepsy Research Centre-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

84
checked on Nov 18, 2024

Google ScholarTM

Check


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