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
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR et al.
Human Molecular Genetics, 2023
Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review.
Zhu H et al.
Frontiers in Neurology, 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_
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Li SJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Chen L et al.
Human Mutation, 2017
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.
Li J et al.
Molecular Psychiatry, 2016
Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.
Waltl S
Clinical Genetics, 2014
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Faqeih EA et al.
American Journal of Medical Genetics. Part A, 2014
[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Vulto-van Silfhout AT et al.
American Journal of Human Genetics, 2014
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