Associated Papers
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 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
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A et al.
American Journal of Medical Genetics. Part A, 2023
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
Guo YX et al.
International Journal of General Medicine, 2021
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
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
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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