Stephen F. Kingsmore

The contribution of de novo coding mutations to meningomyelocele

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia

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

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

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

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

Are we prepared to deliver gene‐targeted therapies for rare diseases?

Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

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

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing

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

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

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

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

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases