Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

(2022) Constance F. Wells et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing

(2021) Jill L. Maron et al.   JAMA Pediatrics

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project

(2021) Bingbing Wu et al.   CRITICAL CARE MEDICINE

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

(2021) David Dimmock et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

(2021) Kandamurugu Manickam et al.   GENETICS IN MEDICINE

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders

(2021) Xuejun Ouyang et al.   Frontiers in Genetics

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

(2021) Anne-Sophie Denommé-Pichon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

(2020) Huijun Wang et al.   HUMAN GENETICS

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

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

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

(2019) Alison M. Elliott et al.   EUROPEAN JOURNAL OF PEDIATRICS

Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses

(2019) En-Ting Wu et al.   Pediatric Critical Care Medicine

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

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

Methadone versus morphine treatment outcomes in neonatal abstinence syndrome: A meta‐analysis

(2019) Feifan Xiao et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

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

How to investigate and adjust for selection bias in cohort studies

(2018) Ellen A Nohr et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

(2018) Ahmed Alfares et al.   GENETICS IN MEDICINE

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

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

Rapid Targeted Genomics in Critically Ill Newborns

(2017) Cleo C. van Diemen et al.   PEDIATRICS

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

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

The Impact of Study Size on Meta-analyses: Examination of Underpowered Studies in Cochrane Reviews

(2013) Rebecca M. Turner et al.   PLoS One

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

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

Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses

(2010) Andreas Stang   EUROPEAN JOURNAL OF EPIDEMIOLOGY