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
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
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Ji J et al.
European Journal of Human Genetics : Ejhg, 2015
DYRK1A mutations in two unrelated patients.
Ruaud L et al.
European Journal of Medical Genetics, 2015
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB et al.
Journal of Medical Genetics, 2012
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