Area of research
Cancer Research · Genetics
Research interest
Research interests include Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Genetic factors in colorectal cancer, and Acute Myeloid Leukemia Research.
ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Lymphoid blast transformation in an MPN with <i>BCR-JAK2</i> treated with ruxolitinib: putative mechanisms of resistance
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Designing and Implementing NGS Tests for Inherited Disorders
The impact of rare variation on gene expression across tissues
Comparison of Laboratory-Developed Tests and FDA-Approved Assays for <i>BRAF, EGFR,</i> and <i>KRAS</i> Testing
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
Assuring the quality of next-generation sequencing in clinical laboratory practice