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
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Satterstrom FK et al.
Cell, 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
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 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
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
Mullegama SV et al.
Clinical Case Reports, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI et al.
Human Genetics, 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