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
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:
- Fassi E, Cheng H, et al. “Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.” October 23, 2019. Human Mutation.
- Fassi E, Zawerton A, et al. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. October 3, 2019. Genetics In Medicine.
- Salpietro V, Fassi E, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. July 12, 2019. Nature Communications.
- Fassi E, Konrad EDH, et al. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. December 21, 2019. Genetics In Medicine.
- Fassi E, Bell S, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons May 2, 2019. American Journal of Human Genetics.
- Fassi E, Chemin J, et al. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. July 1, 2018. Brain: Journal of Neurology.
- Bereton E, Fassi E, et al. Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. March 6, 2018. Molecular Genetics & Genomic Medicine.
- Fassi E, Hamdon FF, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. November 2, 2017. American Journal of Human Genetics.
- Fassi E, Hefner MA. Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. December 2017. American Journal of Medical Genetics.
- Fassi E, Baldridge D, et al. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. September 19, 2017. Genetics in Medicine.