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
Complex movement disorders associated with DEAF1 gene mutation.
Rebelo Procaci V et al.
Parkinsonism & Related Disorders, 2024
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
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
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
Gund C et al.
American Journal of Medical Genetics. Part A, 2016
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
Rajab A et al.
Journal of Medical Genetics, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
[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
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