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.
- 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 .
- 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 .
- 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.
- Finucane, B, Savatt, JM, Shimelis, H, Girirajan, S, Myers, SM. Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax. Am J Med Genet A 2021; 185 (6): 1922-1924. PubMed PMID:33666332 .
- Finucane, BM, Ledbetter, DH, Vorstman, JA. Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation. Curr Opin Genet Dev 2021; 68 : 1-8. PubMed PMID:33434711 PubMed Central PMC8205959.
- Finucane, BM, Myers, SM, Martin, CL, Ledbetter, DH. Long overdue: including adults with brain disorders in precision health initiatives. Curr Opin Genet Dev 2020; 65 : 47-52. PubMed PMID:32544666 PubMed Central PMC7736248.
- Wain, KE, Palen, E, Savatt, JM, Shuman, D, Finucane, B, Seeley, A, Challman, TD, Myers, SM, Martin, CL. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. Hum Mutat 2018; 39 (11): 1660-1667. PubMed PMID:30311381 PubMed Central PMC6190575.
- Ajayi, OJ, Smith, EJ, Viangteeravat, T, Huang, EY, Nagisetty, NSVR, Urraca, N, Lusk, L, Finucane, B, Arkilo, D, Young, J et al.. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses. JMIR Res Protoc 2017; 6 (10): e194. PubMed PMID:29046268 PubMed Central PMC5666222.
- Brendal, MA, King, KA, Zalewski, CK, Finucane, BM, Introne, W, Brewer, CC, Smith, ACM. Auditory Phenotype of Smith-Magenis Syndrome. J Speech Lang Hear Res 2017; 60 (4): 1076-1087. PubMed PMID:28384694 PubMed Central PMC5548078.