Elena G. Bochukova

This study shows that Magel2 deficiency in a mouse model of Prader-Willi syndrome causes microglial structural changes and increased synaptic engulfment, altering neuron-microglia interactions and hypothalamic circuit function.

This study investigates how the HUSH complex suppresses the type I interferon pathway in human pluripotent cells, revealing its role in preventing self-nucleic acid sensing and maintaining immune evasion.

This paper introduces GENEPAIR, a DNN interpretation framework for detecting gene-gene interactions in genomic data, demonstrating its ability to uncover both known and novel gene interactions related to BMI.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.