Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …

BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS)
to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and …

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …

Purpose: This study investigated whole-exome sequencing (WES) yield in a subset of
intellectually disabled patients referred to our clinical diagnostic center and calculated the …

Purpose This study aimed to generate benchmark estimates for the cost, diagnostic yield,
and cost per positive diagnosis of diagnostic exome sequencing (ES) in heterogeneous …

Due to the lack of empirical information on parental perceptions of primary results of whole
exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 …

Importance The use of genome-wide tests to provide molecular diagnosis for individuals
with autism spectrum disorder (ASD) requires more study. Objective To perform …

Background To validate the clinical application of chromosomal microarray analysis (CMA)
as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient …

Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with
autism spectrum disorders (ASDs). We explored the test's perceived usefulness among …