The paper identifies combinatorial TF-cRE interactions in mouse basal ganglia development, revealing modules that drive GABAergic neurogenesis and suppress other fates.

Developmental Cell · Oct 31, 2024Peer-reviewedDevelopmental Biology

Autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.

Siavash Fazel Darbandi, Joon‐Yong An, Kenneth J. Lim, Nicholas F. Page, Lindsay Liang, Athéna Rebecca Ypsilanti, Eirene Markenscoff-Papadimitriou, Matthew W. State, Alex S. Nord, Stephan Sanders, John L.R. Rubenstein

The paper identifies shared regulatory targets of autism-associated transcriptional regulators in brain-expressed genes and shows their functional convergence in neurodevelopmental outcomes.

bioRxiv · Oct 17, 2022 · PreprintGenomics

Transcriptional Network Orchestrating Regional Patterning of Cortical Progenitors

Athéna Rebecca Ypsilanti, Kartik Pattabiraman, Rinaldo Catta-Preta, Olga Golonzhka, Susan Lindtner, Ke Tang, Ian Richard Jones, Armen Abnousi, Ivan Jurić, Ming Hu, Yin Shen, Diane E. Dickel, Axel Visel, Len A. Pennacchio, Michael Hawrylycz, , John L.R. Rubenstein

The paper identifies a transcription factor network and enhancers involved in cortical regional patterning using mouse embryonic data.

Proceedings of the National Academy of Sciences · Dec 17, 2021Peer-reviewedNeuroscience

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

Eirene Markenscoff-Papadimitriou, Fadya Binyameen, Sean Whalen, James Price, Kenneth J. Lim, Athéna Rebecca Ypsilanti, Rinaldo Catta-Preta, Emily Ling-Lin Pai, Xin Ni Mu, Duan Xu, Katherine S. Pollard, Alex S. Nord, Matthew W. State, John L.R. Rubenstein

The paper shows POGZ promotes chromatin accessibility and expression of synaptic genes in mouse and human brains, and its reduction disrupts cortical function through interactions with ADNP.

Cell Reports · Dec 1, 2021Peer-reviewedNeuroscience