Genetics; neuromuscular conditions; pediatric oncology; molecular diagnostics
Genetics, Hereditary Cancer, Hereditary Cancer Program
Comparison of genetic testing documentation between genetic counselors and non-genetic counselors. Journal of Genetic Counseling. 2023; 32:635-645.
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. Molecular Genetics and Genomic Medicine. 2023; 11:e2088.
Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics. Journal of Genetic Counseling. 2021; 30:1559-1569.
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