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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.
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Poduri A, et al. Among authors: evrony gd. Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010. Neuron. 2012. PMID: 22500628 Free PMC article.
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA. Yang YJ, et al. Among authors: evrony gd. Cell. 2012 Nov 21;151(5):1097-112. doi: 10.1016/j.cell.2012.10.043. Cell. 2012. PMID: 23178126 Free PMC article.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH. Reiff RE, et al. Among authors: evrony gd. Hum Mol Genet. 2014 Jul 1;23(13):3456-66. doi: 10.1093/hmg/ddu054. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501276 Free PMC article.
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Bae BI, et al. Among authors: evrony gd. Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392. Science. 2014. PMID: 24531968 Free PMC article.
Cell lineage analysis in human brain using endogenous retroelements.
Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA. Evrony GD, et al. Neuron. 2015 Jan 7;85(1):49-59. doi: 10.1016/j.neuron.2014.12.028. Neuron. 2015. PMID: 25569347 Free PMC article.
30 results