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• Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

  Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC article.
• DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

  Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.
• Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

  Agha Gholizadeh M, Behjati F, Ghasemi Firouzabadi S, Heidari E, Razmara E, Almadani N, Sharifi Zarchi A, Garshasbi M. Agha Gholizadeh M, et al. Neurogenetics. 2024 Oct;25(4):377-391. doi: 10.1007/s10048-024-00768-6. Epub 2024 Jul 8. Neurogenetics. 2024. PMID: 38976082
• The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy.

  Lindeboom RGH, Vermeulen M, Lehner B, Supek F. Lindeboom RGH, et al. Nat Genet. 2019 Nov;51(11):1645-1651. doi: 10.1038/s41588-019-0517-5. Epub 2019 Oct 28. Nat Genet. 2019. PMID: 31659324 Free PMC article.
• Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila.

  Coll-Tané M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A. Coll-Tané M, et al. Dis Model Mech. 2019 May 13;12(5):dmm039180. doi: 10.1242/dmm.039180. Dis Model Mech. 2019. PMID: 31088981 Free PMC article. Review.