Jennifer Friedman

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 Optimized Patient Management

Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock et al. · Science Translational Medicine · 2011 · 300 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

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 et al. · The American Journal of Human Genetics · 2020 · 180 citations · Full text

Sequencing, Neonatology, Newborn Screening +10

Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Joanne Leung, Christine Klein, Jennifer Friedman et al. · Neurogenetics · 2001 · 166 citations

Early Onset Parkinsonism, Novel Mutation, Genetic Disorder +6