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.
- Finucane, B, Myers, SM, Challman, TD, Martin, CL, Ledbetter, DH. Letter to the editor. Autism Res 2023; 16 (4): 678. PubMed PMID:37087602 .
- Gonzalez-Mantilla, PJ, Hu, Y, Myers, SM, Finucane, BM, Ledbetter, DH, Martin, CL, Moreno-De-Luca, A. Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis. JAMA Pediatr 2023; 177 (5): 472-478. PubMed PMID:36877506 PubMed Central PMC9989956.
- 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.
- 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 PubMed Central PMC9857362.
- Savatt, JM, Oetjens, MT, Myers, SM, Finucane, BM. Response to van Riel et al. Genet Med 2023; 25 (1): 161-163. PubMed PMID:36609148 .
- 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 PubMed Central PMC10068678.
- 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 PubMed Central PMC10017070.
- 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.
- 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.