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

Publication Year: 2022

DOI:
10.1002/humu.24444

PMCID:
PMC10087332

PMID:
35904126

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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"CONFLICT OF INTEREST The authors declare no conflict of interest."

Evidence found in paper:

"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."

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Open Access
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Last Updated: Aug 05, 2025