Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Blackburn ATM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.
Qiao F et al.
Frontiers in Genetics, 2019
31803247 (PubMed )
Supplement: DataSheet_2.pdf
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.
Widowati EW et al.
Biology Open, 2018
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Earl RK et al.
Molecular Autism, 2017
29034068 (PubMed )
Supplement: 13229_2017_173_MOESM1_ESM.xlsx › NM101395.2_snvs_indels
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
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