Emily Fassi, MS, CGC
Education: BS in Biology from Truman State University, MS in genetic counseling from Northwestern University.
Areas of Expertise: Cancer, Neurogenetics, Pediatrics
Affiliations and Disclosures: St. Luke’s Health System, FDNA
Biography: Emily spent the first three years of her career as a genetic counselor at Washington University School of Medicine. Since early 2018 she has been working mostly in cancer genetics in Boise, Idaho. She has special interests in cancer risk assessment, rare disease, and individualized medicine. Emily is actively involved with the National Society of Genetic Counselors. In her free time, she loves to explore everything Idaho has to offer.
Peer Reviewed Publications:
- Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
- Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
- CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
- Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
- De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
- Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
- The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.