Associated Papers
Sleep disturbances associated with DEAF1 pathogenic variants.
Guerreiro P et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2025
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR et al.
Human Molecular Genetics, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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