Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of
major genetic variants in the etiology of CP, we conducted exome sequencing on a large …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …

OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome
sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically …

Yuxi, located in China's central plateau of Yunnan, is grappling with ecological and
environmental challenges as it continues to develop its economy. While ecological quality …

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies
follows a sequential approach, which usually takes about 6–8 weeks turnaround time (TAT) …

Background An early and accurate evaluation of the risk of bronchopulmonary dysplasia
(BPD) in premature infants is pivotal in implementing preventive strategies. The risk …

Neurodevelopmental disorders (NDDs) are a genetically heterogeneous group of diseases,
affecting 1%–3% of children. Whole‐exome sequencing (WES) has been widely used as a …

Background Cystic fibrosis (CF) is a common, life-threatening genetic disease in
Caucasians but rarely reported in Chinese population. The prevalence and population …