Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17211
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dc.contributor.authorEising, Else-
dc.contributor.authorCarrion-Castillo, Amaia-
dc.contributor.authorVino, Arianna-
dc.contributor.authorStrand, Edythe A-
dc.contributor.authorJakielski, Kathy J-
dc.contributor.authorScerri, Thomas S-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorWebster, Richard-
dc.contributor.authorMa, Alan-
dc.contributor.authorMazoyer, Bernard-
dc.contributor.authorFrancks, Clyde-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorMorgan, Angela T-
dc.contributor.authorShriberg, Lawrence D-
dc.contributor.authorFisher, Simon E-
dc.date2018-02-20-
dc.date.accessioned2018-03-12T21:52:46Z-
dc.date.available2018-03-12T21:52:46Z-
dc.date.issued2019-
dc.identifier.citationMolecular psychiatry 2019; 24(7): 1065-1078-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17211-
dc.description.abstractGenetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.-
dc.language.isoeng-
dc.titleA set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.-
dc.typeJournal Article-
dc.identifier.journaltitleMolecular psychiatry-
dc.identifier.affiliationLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6525 XD, The Netherlands-
dc.identifier.affiliationDepartment of Neurology, Mayo Clinic, Rochester, MN, 55905, USA-
dc.identifier.affiliationDepartment of Communication Sciences and Disorders, Augustana College, Rock Island, IL, 61201, USA-
dc.identifier.affiliationPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, 3052, Australia-
dc.identifier.affiliationDepartment of Medical Biology, University of Melbourne, Melbourne, 3010, Australia-
dc.identifier.affiliationFaculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, 3010, Australia-
dc.identifier.affiliationDepartment of Neurology and Neurosurgery, Children's Hospital Westmead, Sydney, NSW, Australia-
dc.identifier.affiliationDepartment of Clinical Genetics, Children's Hospital Westmead, Sydney, NSW, Australia-
dc.identifier.affiliationUniversity of Bordeaux, IMN, UMR 5293, Bordeaux, France-
dc.identifier.affiliationDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500 HE, The Netherlands-
dc.identifier.affiliationAustin Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationRoyal Children's Hospital, Melbourne, 3052, Australia-
dc.identifier.affiliationNeuroscience of Speech, Murdoch Childrens Research Institute, Melbourne, 3052, Australia-
dc.identifier.affiliationWaisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA-
dc.identifier.doi10.1038/s41380-018-0020-x-
dc.identifier.orcid0000-0001-9819-1260-
dc.identifier.orcid0000-0003-0226-0642-
dc.identifier.orcid0000-0003-0992-4042-
dc.identifier.orcid0000-0003-2739-0515-
dc.identifier.orcid0000-0003-0970-2837-
dc.identifier.orcid0000-0002-9098-890X-
dc.identifier.orcid0000-0001-5132-0774-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-1147-7405-
dc.identifier.orcid0000-0002-3132-1996-
dc.identifier.pubmedid29463886-
dc.type.austinJournal Article-
local.name.researcherHildebrand, Michael S
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-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
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