Research Interests
Public Heath Genomics; Genetics of Developmental Disorders
Clinical Interests
Cytogenetics, Molecular Genetics
Selected Publications
- Mikhail FM, Biegel JA, Cooley LD, et al. “Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).” Genet. Med.. 2019;21(9):1903-16.
- Mason-Suares H, Kim W, Grimmett L, et al. “Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.” Genet. Med.. 2013;15(9):706-12.
- Riggs ER, Church DM, Hanson K, et al. “Towards an evidence-based process for the clinical interpretation of copy number variation.” Clin. Genet.. 2012;81(5):403-12.
