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.