Associated Papers
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.
Tamura R et al.
Cancer Science, 2023
36762791 (PubMed )
Supplement: CAS-114-2145-s001.xlsx › Table_S10
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
Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.
Dang T et al.
Molecular Psychiatry, 2018
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
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
van Bon BW et al.
Molecular Psychiatry, 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
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
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