Associated Papers
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
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
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
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