Eirene Markenscoff-Papadimitriou, Ph.D.

Assistant Professor, Cornell University

SFARI Investigator Website

Eirene Markenscoff-Papadimitriou is an assistant professor in the Department of Molecular Biology and Genetics at Cornell University. Her group focuses on mechanisms of neuronal chromatin regulation during development and differences that arise by pathogenic variants in chromatin regulator genes linked to autism and neurodevelopmental disorders. Markenscoff-Papadimitriou received a Ph.D. in neuroscience from the University of California, San Francisco, where she studied chromatin regulation and genome architecture in olfactory neuron development. As a postdoctoral fellow, she worked in the laboratories of Matthew State and John Rubenstein at the University of California, San Francisco, where she studied the functions of chromatin regulator genes linked to autism spectrum disorder in the context of dynamic chromatin changes occurring during human brain development.

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