Lisa Salz

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.

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

S. Chowdhury, J. Friedman, Lisa Salz, 2020, BMC Neurology.

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.

Moving Genomics to Routine Care

Rahul C. Deo, S. Kingsmore, A. Pantazi, 2020, Circulation. Genomic and precision medicine.

An Initial Pilot in Acute Cardiovascular Disease

S. Kingsmore, A. Pantazi, R. Deo, 2020 .

Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.

Lisa Salz, Ofelia M Vargas-Shiraishi, Prachi Syngal, 2024, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting

S. Kingsmore, Lisa Salz, A. Jayakar, 2024, Frontiers in Pediatrics.