Associated Papers
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry.
Waghmare S et al.
Genes, 2026
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
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
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
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group
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
Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.
Waltl S
Clinical Genetics, 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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