| dc.contributor.author | DDD Study | |
| dc.date.accessioned | 2019-05-30T10:00:08Z | |
| dc.date.available | 2019-05-30T10:00:08Z | |
| dc.date.issued | 2018-11-05 | |
| dc.identifier | 144508630 | |
| dc.identifier | e7c10261-efc4-477a-8fed-594266de0515 | |
| dc.identifier | 000466459000001 | |
| dc.identifier | 85056256118 | |
| dc.identifier.citation | DDD Study 2018 , ' CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) ' , Nature Communications , vol. 9 , 4619 . https://doi.org/10.1038/s41467-019-10161-9 , https://doi.org/10.1038/s41467-018-06014-6 | en |
| dc.identifier.issn | 2041-1723 | |
| dc.identifier.uri | http://hdl.handle.net/2164/12328 | |
| dc.description | An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrión Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravitation Grant 24.001.006 to the Language in Interaction Consortium (L.S.B., S.E.F., and H.G.B.), the Max Planck Society (S.E.F.), the National Institute on Deafness and Other Communication Disorders Grant DC000496 (L.Sh.) and a core grant to the Waisman Center from the National Institute of Child Health and Human Development (Grant U54 HD090256) to L.Sh., the Canadian Institutes of Health Research Grants MOP-119595 and PJT-148830 to W.T.G. Individuals 11, 16, 24, and 28 were part of The DDD Study cohort. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund [Grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [Grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. | en |
| dc.format.extent | 4 | |
| dc.format.extent | 1740917 | |
| dc.language.iso | eng | |
| dc.relation.ispartof | Nature Communications | en |
| dc.subject | chromatin remodelling | en |
| dc.subject | clinical epigenetics | en |
| dc.subject | disease genetics | en |
| dc.subject | neurodevelopmental disorders | en |
| dc.subject | R Medicine | en |
| dc.subject.lcc | R | en |
| dc.title | CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) | en |
| dc.type | Journal article | en |
| dc.contributor.institution | University of Aberdeen.Applied Medicine | en |
| dc.contributor.institution | University of Aberdeen.Grampian Data Safe Haven (DaSH) | en |
| dc.description.status | Peer reviewed | en |
| dc.identifier.doi | 10.1038/s41467-019-10161-9 | |
