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.
- 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.
- Finucane, B, Lincoln, S, Bailey, L, Martin, CL. Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions. Prenat. Diagn. 2017; 37 (1): 37-42. PubMed PMID:27862088 .
- Liu, JA, Hagerman, RJ, Miller, RM, Craft, LT, Finucane, B, Tartaglia, N, Berry-Kravis, EM, Sherman, SL, Kidd, SA, Cohen, J et al.. Clinicians' experiences with the fragile X clinical and research consortium. Am. J. Med. Genet. A 2016; 170 (12): 3138-3143. PubMed PMID:27604509 .
- Finucane, B, Myers, SM. Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape. Curr Genet Med Rep ; 4 : 147-153. PubMed PMID:27570713 PubMed Central PMC4982889.
- Finucane, B, Challman, TD, Martin, CL, Ledbetter, DH. Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders. Genet. Med. 2016; 18 (4): 302-4. PubMed PMID:26158229 PubMed Central PMC4823637.
- Yrigollen, CM, Martorell, L, Durbin-Johnson, B, Naudo, M, Genoves, J, Murgia, A, Polli, R, Zhou, L, Barbouth, D, Rupchock, A et al.. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord 2014; 6 (1): 24. PubMed PMID:25110527 PubMed Central PMC4126815.