Julie A. Cakici

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

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney et al. · npj Genomic Medicine · 2018 · 438 citations · Full text

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 et al. · The Lancet Respiratory Medicine · 2015 · 403 citations · Full text

Whole-genome Sequencing, Sequencing, Mendelian Disorder +9

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 et al. · The American Journal of Human Genetics · 2019 · 348 citations · Full text

Neonatal Genomics, Newborn Screening, Rapid Genome +11

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

Neil Miller, Emily Farrow, Margaret Gibson et al. · Genome Medicine · 2015 · 315 citations · Full text

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 et al. · Science Translational Medicine · 2019 · 288 citations · Full text