Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJ, Gusella JF, Vergult S, Talkowski ME. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. The American Journal of Human Genetics. 2022 November 3; doi.org/10.1016/j.ajhg.2022.09.015
Tai DJ*, Razaz P*, Erdin S*, Gao D*, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O’Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. The American Journal of Human Genetics. 2022 October 6; doi: 10.1016/j.ajh
Morini E*, Gao D*, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen Y-T, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. Journal of Genetics and Genomics. 2021 December 9; doi.org/10.1016/j.jgg.2021.11.011
Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O’Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. American Journal of Human Genetics. 2021 October 15; doi: 10.1016/j.ajhg.2021.09.017
Gao D*, Morini E*, Salani M*, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. A deep learning approach to identify gene targets of a therapeutic for human splicing disorders. Nature Communications. 2021 06 07; 12(1):3332.
Palma JA, Yadav R, Gao D, Norcliffe-Kaufmann L, Slaugenhaupt S, Kaufmann H. Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing. Neurology Genetics. 2021 Apr; 7(2):e568.
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