Settara C. Chandrasekharappa

G-quadruplexes are a source of vulnerability in BRCA2 deficient granule cell progenitors and medulloblastoma

This study identifies G-quadruplexes as a source of genome instability in BRCA2-deficient granule cell progenitors and medulloblastoma, suggesting PIF1 helicase as a therapeutic target.

Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancies in a Natural History Study

The paper analyzes genomic data from patients with FPDMM to identify germline RUNX1 variants and somatic mutations linked to clonal hematopoiesis and myeloid malignancies.

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants

The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.

A Novel Type 2 Diabetes Locus in sub-Saharan Africans, ZRANB3, is Implicated in Beta Cell Proliferation

The paper identifies a novel type 2 diabetes locus, ZRANB3, in sub-Saharan Africans and shows its potential role in beta cell proliferation through zebrafish studies.