Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Molecular Biology Techniques and Applications, Cancer Genomics and Diagnostics, and Genetic factors in colorectal cancer.
Laboratory and Clinical Implications of Incidental and Secondary Germline Findings During Tumor Testing
Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans
Designing and Implementing NGS Tests for Inherited Disorders
Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels
Viral Pathogen Detection by Metagenomics and Pan-Viral Group Polymerase Chain Reaction in Children With Pneumonia Lacking Identifiable Etiology
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Good laboratory practice for clinical next-generation sequencing informatics pipelines
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders
Methods-Based Proficiency Testing in Molecular Genetic Pathology
Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency
A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload
Clinical analysis of genome next-generation sequencing data using the Omicia platform
VarBin, a novel method for classifying true and false positive variants in NGS data
A Novel EPO Gene Mutation In a Family With Autosomal Dominant Polycythemia
Assuring the quality of next-generation sequencing in clinical laboratory practice
Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing
Developing Genome and Exome Sequencing for Candidate Gene Identification in Inherited Disorders: An Integrated Technical and Bioinformatics Approach