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
Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing.
Durbagula S et al.
General Psychiatry, 2024
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
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
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
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