Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

(2020) Hadley Stevens Smith et al.   GENETICS IN MEDICINE

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

(2020) Abigail S. Carey et al.   PEDIATRIC RESEARCH

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

(2020) Huijun Wang et al.   npj Genomic Medicine

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

(2020) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

(2020) Amanda S. Freed et al.   JOURNAL OF PEDIATRICS

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

(2020) Robert Śmigiel et al.   Journal of Clinical Medicine

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

Neonatal Intensive Care Variation in Medicaid-Insured Newborns: A Population-Based Study

(2019) David C. Goodman et al.   JOURNAL OF PEDIATRICS

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

(2019) Erica F. Sanford et al.   Pediatric Critical Care Medicine

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

Regional Variation in Neonatal Intensive Care Admissions and the Relationship to Bed Supply

(2018) Wade N. Harrison et al.   JOURNAL OF PEDIATRICS

Association Between Neonatal Intensive Care Unit Admission Rates and Illness Acuity

(2018) Joseph Schulman et al.   JAMA Pediatrics

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

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

(2018) Casie A. Genetti et al.   GENETICS IN 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

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

(2017) Robin Z. Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

Reporting Guidelines for the Use of Expert Judgement in Model-Based Economic Evaluations

(2016) Cynthia P. Iglesias et al.   PHARMACOECONOMICS

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Rapid whole genome sequencing and precision neonatology

(2015) Joshua E. Petrikin et al.   SEMINARS IN PERINATOLOGY

Epidemiologic Trends in Neonatal Intensive Care, 2007-2012

(2015) Wade Harrison et al.   JAMA Pediatrics

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine