Sarah M. Ruggiero, MS, LCGC
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
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Leadership Education in Neurodevelopmental Disabilities (LEND) Fellowship - Children’s Hospital of Philadelphia, Philadelphia, PA
Licensed Certified Genetic Counselor (LCGC)
BS in Neuroscience - University of Delaware, Newark, DE
BA in English - University of Delaware, Newark, DE
MS in Genetic Counseling - Arcadia University, Glenside, PA
Licensed Genetic Counselor
Sullivan, K. R., Ruggiero, S. M., Xian, J., Thalwitzer, K. M., Ali, R., Stewart, S., ... & Helbig, I. (2023). A disease concept model for STXBP1‐related disorders. Epilepsia Open.
a. Burglen, L., Van Hoeymissen, E., Qebibo, L., Barth, M., Belnap, N., Boschann, F., … Ruggiero SM ... & Vriens, J. (2023). Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders. eLife, 12, e81032.
Parthasarathy, S., Ruggiero, S. M.**, Gelot, A., Soardi, F. C., Ribeiro, B. F., Pires, D. E., ... & Cuddapah, V. A. (2022). A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. The American Journal of Human Genetics, 109(12), 2253-2269.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, ... McKeown Ruggiero S, et al. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. PMID: 35851549; PMCID: PMC9302932.
Alves CAPF, Clifford SM, McKeown Ruggiero S, Helbig I, Chadehumbe M, Shekdar K. Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome. Neurology. 2022 Sep 12:10.1212/WNL.0000000000201234. doi: 10.1212/WNL.0000000000201234. Epub ahead of print. PMID: 36096688.
Xian J, Parthasarathy S, McKeown SE, Balagura G, Fitch E, Helbig KL, et al. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain 2021.
Lewis-Smith D, Ganesan S, Galer PD, Helbig KL, McKeown SE, O'Brien M, Khankhanian P, Kaufman MC, Gonzalez AK, Felmeister AS, Krause R, Ellis CA, Helbig I. Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data. Eur J Hum Genet. 2021 May 24. doi: 10.1038/s41431-021-00908-8. PMID: 34031551.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, ... McKeown SE, et al. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul 1. doi: 10.1038/s41588-021-00886-z. PMID: 34211179.
Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., ...McKeown SE… & Rinaldi, C. (2021). Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. Brain Communications, 2021. PMID: 34909687 doi: 10.1093/braincomms/fcab245
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, ... McKeown S, et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. PMID: 33909992.
Ganesan S, Galer PD, Helbig KL, McKeown SE, O'Brien M, Gonzalez AK, Felmeister AS, Khankhanian P, Ellis CA, Helbig I. A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation. Genet Med. 2020 Dec;22(12):2060-2070. doi: 10.1038/s41436-020-0923-1. Erratum in: Genet Med. 2020 Sep 4;: PMID: 32773773.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2020 Oct 1;107(4):683-697. doi: 10.1016/j.ajhg.2020.08.003. PMID: 32853554.
Boschen, K. E., McKeown, S. E., Roth, T. L., & Klintsova, A. Y. (2016). Impact of exercise and a complex environment on hippocampal dendritic morphology, Bdnf gene expression, and DNA methylation in male rat pups neonatally exposed to alcohol. Developmental Neurobiology.
2021, NSGC Heart of Genetic Counseling Award Nominee
2019, Graduate Dean’s Distinguished Honor List, Arcadia University
2015, BS with Distinction in Neuroscience, University of Delaware
2019-present, American Board of Genetic Counselors
2019-present, National Society of Genetic Counselors
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