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PubMed for id: 381553

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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Evrony GD, et al. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. Genome Res. 2017. PMID: 28630177 Free PMC article.
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR. Karaca E, et al. Am J Med Genet A. 2019 Oct;179(10):2056-2066. doi: 10.1002/ajmg.a.61315. Epub 2019 Aug 13. Am J Med Genet A. 2019. PMID: 31407851 Free PMC article.