Albert Oriol

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

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

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen et al. · Nature Communications · 2022 · 73 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Bennet Peterson, Edgar J. Hernández, Charlotte A. Hobbs et al. · Genome Medicine · 2023 · 29 citations · Full text

Computing, Health Informatics, Pediatrics +17