Jayne Y. Hehir‐Kwa

This study examines lymphocyte dynamics during chemotherapy in pediatric AML, finding preserved or increased lymphocytes alongside blast reduction, suggesting a potential window for BiTE therapy.

The paper identifies prevalent and pathogenic complex structural variations in pediatric solid tumors, linking them to adverse clinical outcomes and potential therapeutic targets.

This paper develops a method to detect tumor-specific gene fusions in pediatric cancer by integrating RNA-seq and WGS, identifying 165 high-confidence fusions and their structural variants.

Trecode provides a FAIR-compliant platform for managing and analyzing omics data in clinical and research settings, ensuring reproducibility and data reuse.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.