K. Watkins

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2019, American journal of human genetics.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Stephen F. Kingsmore, Michael Gottschalk, Nicole G. Coufal, 2018, Cold Spring Harbor molecular case studies.

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

S. Kingsmore, M. Bainbridge, N. Coufal, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.