Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Genomic variations and chromosomal abnormalities, and BRCA gene mutations in cancer.
A deep intronic splice–altering <i>AIRE</i> variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource