Binnaz Yalcin

This study identifies RNF10-mediated signaling in the dorsal hippocampus as essential for cognitive flexibility by linking NMDAR activation to transcriptional programs that support adaptive behavior.

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

This study identifies indirect genetic effects (IGE) from peers in mice using igeGWAS and confirms IGE genes through knockout experiments.

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

The paper presents full-length de novo genome assemblies for 16 inbred mouse strains, identifying strain-specific haplotypes and novel functional loci, including a large unannotated gene with potential developmental roles.