Shimul Chowdhury

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

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney et al. · npj Genomic Medicine · 2018 · 455 citations · Full text

Life Sciences, Genetics, Pediatrics +14

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 · 358 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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 · 295 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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

David Dimmock, Sara Caylor, Bryce Waldman et al. · The American Journal of Human Genetics · 2021 · 248 citations · Full text

Medicine, Child Health, Pediatrics +10

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 · 190 citations · Full text

Life Sciences, Genetics, Pediatrics +15