Associated Papers
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
Le May N et al.
Frontiers in Neuroscience, 2025
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
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK et al.
Molecular Autism, 2017
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
DYRK1A mutations in two unrelated patients.
Ruaud L et al.
European Journal of Medical Genetics, 2015
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