Timothy Nottoli

The paper identifies an RA-autoregulatory loop in the developing PFC that maintains RA signaling and defines cortical areal identities.

The paper presents the MIND model, showing that competing induction and exclusion programs shape the sensorimotor-to-association axis in the neocortex across species.

This study shows that GDF3 promotes inflammation in aged adipose tissue macrophages via SMAD2/3 signaling and chromatin changes, offering a therapeutic target for age-related inflammation.

This study identifies cell type-specific gene expression changes in Chd8 haploinsufficient mouse cortex during development, highlighting dysregulation in progenitors and neurons.

This study shows CDK11 is critical for cancer cell survival and identifies 1p36 deletions as a biomarker for CDK11 inhibitor sensitivity, but on-target toxicity limits therapeutic efficacy.

This study examines how different heterozygous TRIO variants in mice affect behavior, brain development, and synaptic function, revealing distinct phenotypes linked to neurodevelopmental disorders.

This study shows emerin, a nuclear envelope protein, is expressed in red blood cells and regulates membrane structure and function, with mutations linked to RBC phenotypes like MCV.

The paper identifies accelerated evolution in conserved enhancer elements across mammals and links it to regulatory function turnover and developmental gene modifications.

The paper shows that turnover of CpG islands in enhancers is linked to changes in enhancer activity across mammals, including humans, and contributes to gene regulatory innovation.

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

The paper examines the role of the human-specific enhancer HACNS1 in human evolution by analyzing its effects on gene expression in humanized mice.

The paper disrupts the major promoter-enhancer interaction for Pitx1 in mice and finds minimal phenotypic effects despite complete disruption of the topological interaction.