TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Publication Year: 2021

DOI:
10.1002/humu.24176

PMCID:
PMC8248425

PMID:
33565190

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
0.0% Transparent
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Evidence found in paper:

"data availability statement all data are available upon request. accession number used for cloning the human taok1: nm_020791"

Code Sharing
Evidence found in paper:

"CONFLICT OF INTERESTS Mari Rossi is employed by and receives a salary from Ambry Genetics, one of whose commercially available tests is exome sequencing. Amanda Noyes, Katherine G. Langley, Alice Brooks, Jennifer Humberson, Maria J. Guillen Sacoto, Jane Juusola, Kristin G. Monaghan, and Sumit Punj are employees of GeneDx, Inc."

Evidence found in paper:

"The authors would like to thank the participating families. We thank all clinicians involved for referring individuals with ID for diagnostic exome sequencing and Dr. Simon McGowan for bioinformatics analysis. This study was supported by the Netherlands Organization for Health Research and Development (ZonMw grant 91718310 to T. K.) and by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Programme (AOMW). Additionally, this project has received funding from the European Union's Horizon 2020 RESEArch and INNOVATION PROGRAm under grant agreement No. 779257 (Solve‐RD)."

Protocol Registration
Open Access
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025