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

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, +14

npj Genomic Medicine

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

Laurel K. Willig, Josh E Petrikin, Laurie D. Smith, +21

The Lancet Respiratory Medicine

Whole-genome SequencingSequencingMendelian DisorderNext-generation SequencingGenetics +7

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

Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, +65

The American Journal of Human Genetics

Neonatal GenomicsNewborn ScreeningRapid GenomeExome SequencingGenetics +9

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

Neil Miller, Emily Farrow, Margaret Gibson, +18

Genome Medicine

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

Michelle M. Clark, Amber Hildreth, Serge Batalov, +58

Science Translational Medicine

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, +39

PEDIATRICS

SequencingNeonatal GenomicsNewborn ScreeningNeonatologyNewborn Sequencing +11

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

Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, +15

npj Genomic Medicine

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

David Dimmock, Michelle M. Clark, Mary Gaughran, +66

The American Journal of Human Genetics

SequencingNeonatologyNewborn ScreeningLow Perceived HarmMedicine +8

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Greyson P Twist, Andrea Gaedigk, Neil Miller, +12

npj Genomic Medicine

A citation analysis and scoping systematic review of the operationalization of the Practical, Robust Implementation and Sustainability Model (PRISM)

Borsika A. Rabin, Julie A. Cakici, Caitlin A. Golden, +3

Implementation Science