Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
rs1057519628 in
DYRK1A gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
PMID 28053047 2017 Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs1555984064 in
DYRK1A;LOC105372797 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
PMID 27241786 2016 Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
PMID 28053047 2017 Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
PMID 29034068 2017 Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
rs1569371303 in
LOC105372797;DYRK1A gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
PMID 25641759 2015 DYRK1A mutations in two unrelated patients.
PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
PMID 28053047 2017 Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.