Kiely N. James

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

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

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore et al. · Genome Medicine · 2021 · 152 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision

Yan Cao, Ignacio Sarria, Katherine E. Fehlhaber et al. · Neuron · 2015 · 136 citations · Full text

Medicine, Neurobiology, Neuroscience +16

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Keng Ioi Vong et al. · Nature Genetics · 2023 · 111 citations · Full text

Medicine, Genetics, Molecular Genetics +16