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
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.
Qiao F et al.
Frontiers in Genetics, 2019
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK et al.
Molecular Autism, 2017
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
van Bon BW et al.
Molecular Psychiatry, 2016
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