Eirene Markenscoff-Papadimitriou, Ph.D.

Assistant Professor, Cornell University

SFARI Investigator Website

Eirene Markenscoff-Papadimitriou is an assistant professor at Cornell University. She received her B.A. from Harvard University and her Ph.D. in neuroscience from the University of California, San Francisco. For her doctoral thesis in the laboratory of Stavros Lomvardas, she explored the regulation of olfactory receptor genes and discovered a unique mode of gene regulation that involves inter-chromosomal interactions in the nucleus.

For her postdoctoral training, Markenscoff-Papadimitriou joined the laboratories of Matthew State and John Rubenstein to study gene regulatory mechanisms in cortical development and autism spectrum disorder (ASD). There, she has used chromatin profiling techniques to identify human neurodevelopmental enhancers and to probe the neurodevelopmental consequences of mutations in ASD risk genes that encode chromatin regulators.

Funded Projects

Mechanisms of chromatin regulation in autism

Awarded: 2021
Award Type: Bridge to Independence

SFARI Funded Publications

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Chen Y., Dawes R., Kim H.C., Ljungdahl A., Stenton S.L., Walker S., Lord J., Lemire G., Martin-Geary A.C., Ganesh V.S., Ma J., Ellingford J.M., Delage E., D'Souza E.N., Dong S., Adams D.R., Allan K., Bakshi M., Baldwin E.E., Berger S.I., Bernstein J.A., Bhatnagar I., Blair E., Brown N.J., Burrage L.C., Chapman K., Coman D.J., Compton A.G., Cunningham C.A., D'Souza P., Danecek P., Délot E.C., Dias K.-R., Elias E.R., Elmslie F., Evans C.-A., Ewans L., Ezell K., Fraser J.L., Gallacher L., Genetti C.A., Goriely A., Grant C.L., Haack T., Higgs J.E., Hinch A.G., Hurles M.E., Kuechler A., Lachlan K.L., Lalani S.R., Lecoquierre F., Leitão E., Le Fevre A., Leventer R.J., Liebelt J.E., Lindsay S., Lockhart P.J., Ma A.S., Macnamara E.F., Mansour S., Maurer T.M., Mendez H.R., Metcalfe K., Montgomery S.B., Moosajee M., Nassogne M.-C., Neumann S., O'Donoghue M., O'Leary M., Palmer E.E., Pattani N., Phillips J., Pitsava G., Pysar R., Rehm H.L., Reuter C.M., Revencu N., Riess A., Rius R., Rodan L., Roscioli T., Rosenfeld J.A., Sachdev R., Shaw-Smith C.J., Simons C., Sisodiya S.M., Snell P., St Clair L., Stark Z., Stewart H.S., Tan T.Y., Tan N.B., Temple S.E.L., Thorburn D.R., Tifft C.J., Uebergang E., VanNoy G.E., Vasudevan P., Vilain E., Viskochil D.H., Wedd L., Wheeler M.T., White S.M., Wojcik M., Wolfe L.A., Wolfenson Z., Wright C.F., Xiao C., Zocche D., Rubenstein J., Markenscoff-Papadimitriou E., Fica S.M., Baralle D., Depienne C., MacArthur D.G., Howson J.M.M., Sanders S., O'Donnell-Luria A., Whiffin N.

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. Markenscoff-Papadimitriou E., Binyameen F., Whalen S., Price J., Lim K., Ypsilanti A.R., Catta-Preta R., Pai E.L.-L., Mu X., Xu D., Pollard K.S., Nord A., State M., Rubenstein J.

Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz. Cunniff M.M., Markenscoff-Papadimitriou E., Ostrowski J., Rubenstein J., Sohal V.

Research Highlight