publication venue for
- A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. 2022
- Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome. 2022
- Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis. 2021
- The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer. 2023
- Whole-genome characterization of myoepithelial carcinomas of the soft tissue.. 8. 2022
- Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.. 8. 2022
- Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. 2022
- Exceptional responders with invasive mucinous adenocarcinomas: a phase 2 trial of bortezomib in patients with KRAS G12D-mutant lung cancers.. 5. 2019
- Germline SDHA mutations in children and adults with cancer.. 4. 2018
- A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.. 3. 2017
- Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.. 1. 2015
- Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assay.. 1. 2015
- Precision oncogenomics in pediatrics: a personal reflection. 2018