Symposium Speaker: Brenda Finucane, MS, LGC

Brenda Finucane, MS, LGC, is Professor and Associate Director of Geisinger Health System's Autism and Developmental Medicine Institute.  Finucane is a genetic counselor, and her education and career have straddled research and the clinic.  Her clinical and research activities have focused on genetic causes of developmental brain disorders, including autism and intellectual disability.  Finucane's early work focused on the behavioral and cognitive consequences of the fragile X syndrome, Smith-Magenis, and 15q duplication, among other syndromes.  At Geisinger in her current position, Finucane and her team study the family genetic background and its impact on phenotypes for several syndromes including the fragile X syndrome, sex chromosomal abnormalities, and the 22q11.2 deletion syndrome.  Ms. Finucane has a particular interest in translating knowledge about genetic diagnoses into practical strategies that enhance healthcare, behavioral, and educational interventions for children and adults.  She is widely published and has been in leadership roles in professional and advocacy organizations throughout her career, including a term as president of the National Society of Genetic Counselors.

Recent Publications

  1. White, LK, Crowley, TB, Finucane, B, McClellan, EJ, Donoghue, S, Garcia-Minaur, S, Repetto, GM, Fischer, M, Jacquemont, S, Gur, RE et al.. Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes (Basel) 2023; 14 (1): . PubMed PMID:36672911 PubMed Central PMC9859499.
  2. Berry, ASF, Finucane, BM, Myers, SM, Abril, A, Kirchner, HL, Ledbetter, DH, Martin, CL, Oetjens, MT. Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism. JAMA 2023; 329 (3): 235-243. PubMed PMID:36648468 .
  3. Savatt, JM, Oetjens, MT, Myers, SM, Finucane, BM. Response to van Riel et al. Genet Med 2023; 25 (1): 161-163. PubMed PMID:36609148 .
  4. Taylor, CM, Finucane, BM, Moreno-De-Luca, A, Walsh, LK, Martin, CL, Ledbetter, DH. Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome. Genet Med 2023; 25 (1): 151-154. PubMed PMID:36609147 .
  5. Shimelis, H, Oetjens, MT, Walsh, LK, Wain, KE, Znidarsic, M, Myers, SM, Finucane, BM, Ledbetter, DH, Martin, CL. Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population. Am J Psychiatry 2023; 180 (1): 65-72. PubMed PMID:36475376 .
  6. Savatt, JM, Shimelis, H, Moreno-De-Luca, A, Strande, NT, Oetjens, MT, Ledbetter, DH, Martin, CL, Myers, SM, Finucane, BM. Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population. Genet Med 2022; 24 (9): 1857-1866. PubMed PMID:35639097 PubMed Central PMC9703446.
  7. Jacquemont, S, Huguet, G, Klein, M, Chawner, SJRA, Donald, KA, van den Bree, MBM, Sebat, J, Ledbetter, DH, Constantino, JN, Earl, RK et al.. Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Am J Psychiatry 2022; 179 (3): 189-203. PubMed PMID:35236119 PubMed Central PMC9345000.
  8. White, LK, Crowley, TB, Finucane, B, Garcia-Minaur, S, Repetto, GM, van den Bree, M, Fischer, M, Jacquemont, S, Barzilay, R, Maillard, AM et al.. The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers. J Intellect Disabil Res 2022; 66 (4): 313-322. PubMed PMID:35191118 PubMed Central PMC9725107.
  9. Finucane, B, Oetjens, MT, Johns, A, Myers, SM, Fisher, C, Habegger, L, Maxwell, EK, Reid, JG, Ledbetter, DH, Kirchner, HL et al.. Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants. Genet Med 2022; 24 (3): 703-711. PubMed PMID:34906480 PubMed Central PMC8901449.
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Brenda Finucane on Twitter

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The Finucane Lab Website

Curriculum vitae