Kevin A. Peterson

This study shows that modulating SUFU-GLI interactions rescues ciliopathic phenotypes in mice by restoring GLI transcriptional activity without requiring ciliary processing.

The paper shows how coordinated Wnt and Hedgehog signaling creates sharp cell-type boundaries by synchronizing cell-cycle exit and differentiation.

The paper identifies two distinct temporal roles for GLI3 in neural crest development: one in early specification and another in cranial NCC differentiation.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper generates a mouse model with a deletion in an enhancer of EBF3, showing reduced Ebf3 expression and sex-specific behavioral and phenotypic differences.

The paper shows that coordinated timing between Wnt and Hedgehog signaling generates sharp cell-type boundaries during hair follicle development.

The paper analyzes gene intolerance to loss-of-function variation in a rare disease cohort to identify patterns in gene expression, sequence features, and disease associations across FUSIL categories.

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

The paper shows ARID1A-haploinsufficiency impairs EMT in CNCC specification by disrupting ARID1A-BAF binding at EMT enhancers, which affects ZIC2 occupancy and leads to aberrant neuronal gene activation.

The paper analyzes whole-genome sequencing data from Cas9-edited mice to assess off-target mutagenesis, finding minimal off-target activity across 163 guide RNAs.

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

This study shows Gli3 and Hand2 work together to control gene expression in craniofacial development without relying on a graded Hh signal.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

The paper identifies Shh responsive genes and regulatory sequences involved in cochlear morphogenesis using genomic approaches.