De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Accepted/In Press date: 29 July 2022

e-pub ahead of print date: 10 August 2022

Published date: December 2022

Additional Information: Funding Information: We wish to thank the patients and families described in this manuscript. We thank the genetic diagnostic labs for providing technical support and data presentation. We thank the van Haaften Lab for fruitful discussions and manuscript review. This study was supported by funding from the Genetics Department at UMC Utrecht, the Netherlands; the Australian NHMRC Centre for Research Excellence in Neurocognition (Grant Number 1117394); LR, SP, and KÕ are supported by the Estonian Research Council grants PRG471 and MOBTP175. This study was furthermore made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Funding Information: We wish to thank the patients and families described in this manuscript. We thank the genetic diagnostic labs for providing technical support and data presentation. We thank the van Haaften Lab for fruitful discussions and manuscript review. This study was supported by funding from the Genetics Department at UMC Utrecht, the Netherlands; the Australian NHMRC Centre for Research Excellence in Neurocognition (Grant Number 1117394); LR, SP, and KÕ are supported by the Estonian Research Council grants PRG471 and MOBTP175. This study was furthermore made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Publisher Copyright: © 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.

Keywords: TAF4, TFIID, human genetics, mendelian disorders, neurodevelopmental disorder

Local EPrints ID: 468915

URI: http://eprints.soton.ac.uk/id/eprint/468915

DOI: doi:10.1002/humu.24444

ISSN: 1059-7794

PURE UUID: 1d6dea16-9add-4127-87e5-e2ea492f802e

ORCID for Sarah Ennis: orcid.org/0000-0003-2648-0869

Date deposited: 01 Sep 2022 16:42

Last modified: 17 Mar 2024 07:26