Highlights

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McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee J, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF. Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat. Nature Communications. 2024 April 12. doi.org/10.1038/s41467-024-47485-0 

Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt SA. Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system. Scientific Reports. 2024 January 04;  doi.org/10.1038/s41598-023-51137-6

RNA Splicing Modulation (Patent)

Gao D, Morini E, Talkowski ME, Slaugenhaupt SA, Li W, Effenberger KA, Trotta CR, Yu Y, Gabbeta V, Dakka A, Naryshkin NA

US 17/790.328

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.