Steven M. Lipkin

This study identifies SLC25A28 as a synthetic lethal target in NER-deficient cancers, showing its loss impairs cell viability and increases oxidative stress.

SAHA creates a multimodal, subcellular-resolution reference atlas of healthy human tissues, revealing spatial organization and disease-associated disruptions across multiple organ systems.

This study characterizes the genomic distribution and evolution of pks islands in E. coli strains associated with colorectal cancer, revealing phylogenetic patterns and horizontal gene transfer.

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

The paper develops a computational framework to analyze mutational hotspots in cancer genomes using a human 3D interactome network, identifying clinically relevant interactions and proteins.

The paper constructs a 3D structural interactome of SARS-CoV-2-human protein interactions, analyzing evolutionary divergence, population variation, and drug impacts.

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

The paper identifies inherited rare, deleterious ATM variants as risk factors for lung adenocarcinoma, showing increased odds ratios in case-control studies and population cohorts.

PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.

The paper sequenced a population-specific reference panel at high depth to improve imputation accuracy and variant filtering in the Ashkenazi Jewish population.

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.

This study reports that 17% of advanced cancer patients have clinically relevant germline variants, with higher rates of cancer-associated variants compared to control cohorts.