Yasin Memari

This study identifies RER deficiency as a new DNA repair defect in cancer, detectable through mutational signatures and linked to therapeutic vulnerabilities.

This study develops a human model of early squamous lung cancer induced by a carcinogen, identifies a novel atypical basal cell state, and shows that capivasertib prevents and reverses the abnormal phenotype.

This study identifies BCOR mutations in hiPSCs as a culture-adaptive state causing chromatin, transcriptomic, and proteomic changes, and develops a qPCR assay for detection.

The paper shows HRd is a continuum with functional and mutational heterogeneity, highlighting the need for refined molecular classification for precision interventions.

The paper investigates a BRCA2 truncating variant's effect on NF-κB-driven transcription by showing it disrupts the BRCA2-PCAF complex, reducing histone acetylation and impairing cell migration.

This study investigates neurodegeneration in Xeroderma pigmentosum using stem cell-derived neurons, identifying endoplasmic reticulum stress and UPS dysfunction as key factors and developing an early detection assay.

The paper analyzes genomic variation in hiPSCs derived from skin and blood, finding high mutation rates in fibroblast-derived lines and frequent BCOR mutations in blood-derived lines.

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.

This study analyzes 522 human iPSCs to identify genetic sources of phenotypic variation, finding 5-25% of variation in traits like differentiation capacity is due to individual differences.

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.