Stephen Francis Kingsmore

The paper uses genomic mosaicism to study clonal dynamics of trunk neural crest-derived ganglia, finding conserved developmental patterns across species.

The paper identifies haplospecific antisense oligonucleotides for genetic disorder treatment using population genome sequencing and haplotyping.

This study compares the cost-effectiveness of rapid genome sequencing and targeted gene panel testing in critically ill infants, finding early rapid genome sequencing leads to significant cost savings.

The paper presents a brain organoid atlas of 352 patient-derived iPSCs from neurodevelopmental disorders, showing disease-specific cellular defects in organoids.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

The paper evaluates MPSE's performance in prioritizing NICU newborns for WGS within 48 hours using various ML classifiers, CNLP tools, and data types, finding high accuracy and flexibility.

The paper uses mosaic variant barcodes to analyze clonal dynamics in human forebrain cell types, revealing lineage relationships and clonal spread patterns.

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study demonstrates that high-quality whole genome sequencing can be achieved from archived dried blood spots without PCR amplification, suitable for population genomic studies.

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

This study compares diagnostic sensitivity and clinical utility of WGS, WES, and CMA in children with suspected genetic diseases, finding WGS/WES more effective than CMA.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

The paper develops gene-expression-based prognostic models for 30-day mortality in sepsis using community-onset and hospital-acquired sepsis cohorts, showing improved prediction when combined with clinical scores.

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.