Improving Exome Sequencing for Neurodevelopmental Disorders.

JAMA Netw Open

Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC.

Published: March 2025


Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamanetworkopen.2025.1818DOI Listing

Publication Analysis

Top Keywords

improving exome
4
exome sequencing
4
sequencing neurodevelopmental
4
neurodevelopmental disorders
4
improving
1
sequencing
1
neurodevelopmental
1
disorders
1

Similar Publications

Introduction: The integration of genetic testing in pediatrics has advanced significantly in recent years. The incorporation of technologies such as Next Generation Sequencing (NGS) and array-based Comparative Genomic Hybridization (aCGH) in increasingly younger patients has accelerated the transition toward precision medicine.

Methods: This retrospective cross-sectional study (January 2021-June 2024) included 187 neonates (≤90 days old) from the NICUs of the Clínica Colsanitas network in Bogotá, Colombia and evaluate the diagnostic yield for genomic testing comprising 82 Whole Exome Sequencing (WES) and 125 aCGH tests, with 18 patients undergoing both.

View Article and Find Full Text PDF

Selenocysteine insertion sequence-binding protein 2 () is crucial for the biosynthesis of selenoproteins, including iodothyronine deiodinases, which play a vital role in thyroid hormone metabolism. Mutations in can disrupt thyroid function, leading to various clinical manifestations across multiple systems. We present the case of a 3-year-old Saudi female who was referred for genetic testing due to poor growth, developmental abnormalities, and notable facial dysmorphism.

View Article and Find Full Text PDF

Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia.

Hum Genet

September 2025

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.

This study aims to assess the genetic burden of fetal congenital diaphragmatic hernia (CDH) and identify prenatal, perinatal, and postnatal predictors to improve early diagnosis, monitoring, and intervention. This study included 130 CDH fetuses who underwent invasive prenatal diagnosis, with fetal prognosis evaluated using imaging parameters such as observed-to-expected lung-to-head ratio (o/e LHR), observed-to-expected total lung volume (o/e TLV), and percent predicted lung volume (PPLV). Clinical outcomes included neonatal outcomes, extracorporeal membrane oxygenation (ECMO) requirement, and post-neonatal prognosis.

View Article and Find Full Text PDF

Introduction: Ovarian clear cell carcinoma (OCCC) accounts for about 5% of all epithelial ovarian cancers. Currently, its treatment mainly refers to high-grade serous carci-noma (HGSC). This study aimed to explore differences in clinical characteristics between OCCC and HGSC and studied the reasons for the differences.

View Article and Find Full Text PDF

Background: Half of ovarian high-grade serous carcinomas (HGSC) have homologous recombination deficiency (HRD). However, HRD is not well-characterized in Black individuals who experience worse survival after a diagnosis of HGSC. The objective of this study was to characterize ovarian HGSC HRD and examine its association with survival by self-reported race.

View Article and Find Full Text PDF