Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Precision medicine in 2030—seven ways to transform healthcare

(2021) Joshua C. Denny et al.   CELL

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

Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

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

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

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

Genetic aetiology of early infant deaths in a neonatal intensive care unit

(2019) Lin Yang et al.   JOURNAL OF MEDICAL GENETICS

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

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

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

(2018) Laura M. Amendola et al.   Journal of Genetic Counseling

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

(2018) Lauge Farnaes 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

Estimating the burden and economic impact of pediatric genetic disease

(2018) Nina Gonzaludo et al.   GENETICS IN MEDICINE

Critical appraisal of arguments for the delayed-start design proposed as alternative to the parallel-group randomized clinical trial design in the field of rare disease

(2017) Loukia M. Spineli et al.   Orphanet Journal of Rare Diseases

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

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

Epidemiologic Trends in Neonatal Intensive Care, 2007-2012

(2015) Wade Harrison et al.   JAMA Pediatrics

Three decades of pediatric intensive care: Who was admitted, what happened in intensive care, and what happened afterward*

(2010) Poongundran Namachivayam et al.   Pediatric Critical Care Medicine