Research graph
References from Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients. Local targets link to admitted publications; unresolved targets remain external evidence.
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
10.1038/s41390-020-01151-5 · 2021 · External reference
Estimating the burden and economic impact of pediatric genetic disease.
10.1038/s41436-018-0398-5 · 2019 · External reference
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
10.1038/s41525-018-0045-8 · 2018 · External reference
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
10.1038/s41525-024-00404-0 · 2024 · External reference
Rapid whole-genome sequencing and clinical management in the PICU: a multicenter cohort, 2016–2023.
10.1097/pcc.0000000000003522 · 2024 · External reference
Diagnostic yield of comprehensive reanalysis after nondiagnostic short-read genome sequencing in infants with unexplained epilepsy.
10.1212/wnl.0000000000214645 · 2026 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
10.1038/gim.2015.30 · 2015 · External reference
A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants.
10.1016/j.ajhg.2019.08.009 · 2019 · External reference
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management.
10.1001/jamapediatrics.2017.3438 · 2017 · External reference
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
10.1038/s41436-019-0708-6 · 2020 · External reference
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system.
10.1001/jama.2020.7671 · 2020 · External reference
Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial.
10.1001/jamapediatrics.2021.3496 · 2021 · External reference
Rapid whole-genomic sequencing and a targeted neonatal gene panel in infants with a suspected genetic disorder.
10.1001/jama.2023.9350 · 2023 · External reference
National rapid genome sequencing in neonatal intensive care.
10.1001/jamanetworkopen.2024.0146 · 2024 · External reference
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
10.1038/s41525-018-0049-4 · 2018 · External reference
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
10.1038/s41525-020-00140-1 · 2020 · External reference
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
10.1126/scitranslmed.aat6177 · 2019 · External reference
Patient-customized oligonucleotide therapy for a rare genetic disease.
10.1056/nejmoa1813279 · 2019 · External reference
KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients.
10.1212/nxg.0000000000000096 · 2016 · External reference
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care.
10.1016/j.ajhg.2021.05.008 · 2021 · External reference
Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit.
10.3389/fped.2021.809536 · 2022 · External reference
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
10.1101/gr.279227.124 · 2024 · External reference
Unresolved reference
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