Matthew N. Bainbridge

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

Jeffrey G. Reid, Andrew Carroll, Narayanan Veeraraghavan et al. · BMC Bioinformatics · 2014 · 234 citations · Full text

Life Sciences, Bioinformatics, Biology +11

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