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DYRK1A

Publications

  • van Bon BWM, et al. DYRK1A-Related Intellectual Disability Syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Initial Posting: 2015 Dec 17. PMID:26677511. Available from: https://www.ncbi.nlm.nih.gov/books/NBK333438/
  • Luco SM, et al. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. BMC Med Genet. 2016; 17:15. PMID:26922654.
  • Evers JMG, et al. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Hum Mol Genet. 2017; 26(3):519-526. PMID:28053047.
  • van Bon BW, et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry. 2016; 21(1):126-132. PMID:25707398.
  • van Bon BW, et al. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet. 2011; 79(3):296-299. : 21294719PMID:21294719.
  • Bronicki LM, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015; 23(11):1482-1487. PMID:25920557.
  • Courcet JB, et al. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet. 2012; 49(12):731-736. PMID:23099646.
  • Deciphering Developmental Disorders Study Group. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015; 519(7542):223-228. PMID:25533962.: 25533962
  • Guimerá J, et al. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet. 1996; 5(9):1305-1310. PMID:8872470.
  • Ji J, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015; 23(11):1473-1481. PMID:25944381.
  • Kervestin S, et al. NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol. 2012; 13(11):700-712. PMID:23072888.
  • Møller RS, et al. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet. 2008; 82(5):1165-1170. PMID:18405873.
  • Oegema R, et al. Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A. Mol Syndromol. 2010; 1(3):113-120. PMID:21031080.
  • O’Roak BJ, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012; 338(6114):1619-1622. PMID:23160955.
  • Park J, et al. New perspectives of Dyrk1A role in neurogenesis and neuropathologic features of Down syndrome. Exp Neurobiol. 2013; 22(4):244-248. PMID:24465139.
  • Redin C, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet. 2014; 51(11):724-736. PMID:25167861.
  • Ruaud L, et al. DYRK1A mutations in two unrelated patients. Eur J Med Genet. 2015; 58(3):168-174. PMID:25641759.
  • Valetto A, et al. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Eur J Med Genet. 2012; 55(5):362-366. PMID:22548977.