Eirene Markenscoff-Papadimitriou

Harvard University BA

University of California, San Francisco PhD

HONORS AND AWARDS

Klingenstein-Simons Fellowship Award in Neuroscience 2024

SFARI Bridge to Independence Fellowship Award 2022

The diversity of cell types and cell identities in the brain is astounding. My research is focused on understanding the gene-regulatory mechanisms that generate this diversity during brain development. My lab uses transgenic mice and human induced pluripotent stem cell derived neurons to model brain development. We use these models to then probe the function of human genetic variants linked to autism and how they dysregulate development. Our hope is that our studies will illuminate genetic mechanisms of human brain development and pave the way for therapeutics for autism and neurodevelopmental disorders. 

Selected Publications

1. Markenscoff-Papadimitriou E, Binyameen F, Whalen S, Price J, Lim K, Catta-Preta R, Pai EL-L, Mu X, Xu D, Pollard KS, Nord A, Matthew W. State, Rubenstein JLR (2021) Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. Cell Reports 37(10):110089. https://doi.org/10.1016/j.celrep.2021.110089.
2. Cunniff MM, Markenscoff-Papadimitriou E, Ostrowski J, Rubenstein JL, Sohal VS. (2020). Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice defi- cient for the autism-associated gene Pogz. Elife. 9:e54835. https://doi.org/10.7554/eLife.54835
3. Markenscoff-Papadimitriou E, Whalen S, Przytycki P, Thomas R, Binyameen F, Nowakowski TJ, Kriegstein AR, Sanders SF, State MW, Pollard KS, and Rubenstein JL. (2020). A chro- matin accessibility atlas of the developing human telencephalon. Cell. 182(1-16). https://doi.org/10.1016/j.cell.2020.06.002
4. An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff- Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. (2018). Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 362 (6420) https://doi.org/10.1126/science.aat6576
5. Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. (2018) An analytical framework for whole-genome sequence association studies and its implica- tions for autism spectrum disorder. Nature Genetics. 50(5):727-736 https://doi.org/10.1038/s41588-018-0107-y
6. Markenscoff-Papadimitriou E, Allen W., Colquitt, B., Murphy, K., Goh, T., Monahan, K., Mosely, C., Ahituv, N., and Lomvardas, S. (2014). Enhancer interaction networks as a means for singular olfactory receptor expression. Cell. 159(3):543-57. https://doi.org/10.1016/j.cell.2014.09.033