Batsheva Kerem

This study shows that p53 deficiency causes hypertranscription and nucleotide insufficiency, leading to replication stress and genomic instability, including chromothripsis.

The paper predicts and validates responses to CFTR modulator combinations in patients with rare mutations using structural data and functional assays.

This study develops an antisense oligonucleotide (ASO) therapy for CF patients with the 3849+10kb C-to-T splicing mutation, showing restoration of CFTR function in patient-derived cells.

The paper identifies a fragility signature linked to replication stress and transcription in chromosomal instability by analyzing replication timing and gene expression.