Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently
become apparent, with many hundreds of de novo variants identified through widely …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of
1,000,000 live births and has been associated with mutations in components of the …

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals
of European ancestry, with less focus on underrepresented minority (URM) and underserved …

Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share
and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU …

Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with
congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the …

Importance Genomic medicine holds promise to revolutionize care for critically ill infants by
tailoring treatments for patients and providing additional prognostic information to families …