Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

(2019) Courtney E. French et al.   INTENSIVE CARE MEDICINE

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

(2019) Michelle M. Clark et al.   Science Translational Medicine

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

(2019) Cynthia S. Gubbels et al.   GENETICS IN MEDICINE

Paediatric genomics: diagnosing rare disease in children

(2018) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

(2018) Lauge Farnaes et al.   npj Genomic Medicine

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

(2018) Josh E. Petrikin et al.   npj Genomic Medicine

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

(2018) Lamia Mestek-Boukhibar et al.   JOURNAL OF MEDICAL GENETICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

(2016) E. Damiati et al.   HUMAN GENETICS

Genomic intensive care: should we perform genome testing in critically ill newborns?: Table 1

(2015) Dominic JC Wilkinson et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

(2015) Eric Samorodnitsky et al.   HUMAN MUTATION

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

(2015) Neil A. Miller et al.   Genome Medicine

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Inborn errors of metabolism in a neonatology unit: Impact and long-term results

(2010) Ma Luz Couce et al.   PEDIATRICS INTERNATIONAL