Wayne Crismani

The paper identifies a druggable metabolite binding site in the FA E3 ligase complex that inhibits its activity and selectively kills BRCA1-deficient cells.

A patient with Fanconi anemia developed triploid hematopoietic stem cells that lacked the disease phenotype, enabling sustained hematopoiesis through restored DNA repair.

This paper introduces a competitive co-culture assay to detect synthetic lethal effects of PARP inhibitors in BRCA1-deficient cells and identifies differences in PARP inhibitor resistance.

This paper uses snATAC-seq to identify meiotic crossovers in sperm, revealing their distribution and molecular features in wildtype and Fancm-deficient mice.

This study investigates the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand, finding a correlation between testing rates and case detection, and highlighting increased susceptibility to HNSCC.

The paper identifies FANCC as an anti-CO gene conserved from vertebrates to plants and shows it regulates meiotic recombination with FANCE and FANCF.

This paper introduces sgcocaller and comapr, tools for haplotype assembly and crossover map analysis from single-gamete sequencing data, showing improved accuracy and efficiency over existing methods.

This study shows Fancm deficiency increases crossover frequencies and disrupts gametogenesis in mice, with potential implications for human genomic instability disorders.