Publications by authors named "E S Plyler"
Purpose: The purpose of the study was to design a pan-cancer gene panel for childhood malignancies and validate it using clinically characterized patient samples.
Experimental Design: In addition to 5,275 coding exons, SJPedPanel also covers 297 introns for fusions/structural variations and 7,590 polymorphic sites for copy-number alterations. Capture uniformity and limit of detection are determined by targeted sequencing of cell lines using dilution experiment.
Background: Large scale genomics projects have identified driver alterations for most childhood cancers that provide reliable biomarkers for clinical diagnosis and disease monitoring using targeted sequencing. However, there is lack of a comprehensive panel that matches the list of known driver genes. Here we fill this gap by developing SJPedPanel for childhood cancers.
View Article and Find Full Text PDFUnlabelled: We present the first comprehensive investigation of clonal hematopoiesis (CH) in 2,860 long-term survivors of pediatric cancer with a median follow-up time of 23.5 years. Deep sequencing over 39 CH-related genes reveals mutations in 15% of the survivors, significantly higher than the 8.
View Article and Find Full Text PDFPurpose: The purpose of this study was to determine whether the speech-evoked auditory brainstem responses (sABRs) obtained by stimulating the ear with normal sensitivity in children with unilateral hearing loss (UHL) were different from that of children with normal hearing (NH), and to explore correlations between the sABR findings and measures of reading.
Method: Eleven children with UHL and 11 children with NH were tested via the BioMARK sABR protocol using the syllable /da/; latency and amplitudes of Waves V, A, C, D, E, F, and O were measured. Participants also were tested on the Phonemic Synthesis Test (PST) and the Woodcock Reading Mastery Test-Revised (WRMT-R), particularly the Reading Readiness, Basic Skills, and Comprehension subtests.