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 · 348 citations · Full text

Neonatal Genomics, Newborn Screening, Rapid Genome +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 · 180 citations · Full text

Sequencing, Neonatology, Newborn Screening +10

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 · 135 citations · Full text

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 · 132 citations · Full text

Synaptic Plasticity, Photoreceptor Cell, Retina +7

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Martin W. Breuss, Danny Antaki, Renee D. George et al. · Nature Medicine · 2019 · 104 citations · Full text

Infertility, Andrology, Developmental Biology +13