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Craniosynostosis is a feature of Costello syndrome. Weaver, KN; Care, M; Wakefield, E; Zarate, YA; Skoch, J; Gripp, KW; Prada, CE. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286.

Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics. Menke, C; Nagaraj, CB; Dawson, B; He, H; Tawde, S; Wakefield, EG. Journal of Genetic Counseling. 2021; 30:1559-1569.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Koczkowska, M; Callens, T; Gomes, A; Sharp, A; Chen, Y; Hicks, AD; Aylsworth, AS; Azizi, AA; Basel, DG; Bellus, G; et al. Genetics in Medicine. 2019; 21:867-876.

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1. Kongkriangkai, AM; King, C; Martin, LJ; Wakefield, E; Prada, CE; Kelly-Mancuso, G; Schorry, EK. American Journal of Medical Genetics, Part A. 2019; 179:602-607.

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy. Aljeaid, D; Isabel Sanchez, A; Wakefield, E; Chadwell, SE; Moore, N; Prada, CE; Zhang, W. American Journal of Medical Genetics, Part A. 2019; 179:608-614.

Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory. Wakefield, E; Keller, H; Mianzo, H; Nagaraj, CB; Tawde, S; Ulm, E. Journal of Genetic Counseling. 2018; 27:1067-1073.

Clinical Reasoning: Importance of clinical phenomenology in the era of genetic testing. Basu, MR; Espay, AJ; Wakefield, EG; Wu, SW. Neurology. 2018; 90:e534-e537.