Associated Papers
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.
Agha Gholizadeh M et al.
Neurogenetics, 2024
Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7.
Huang C et al.
Frontiers in Genetics, 2023
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J et al.
Clinical Genetics, 2016
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
Luco SM et al.
Bmc Medical Genetics, 2016
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki LM et al.
European Journal of Human Genetics : Ejhg, 2015
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