Last Updated: 09/26/2026
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Found 15 publications
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
Journal: American journal of medical genetics. Part A
Published: January 19, 2026
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow.
Journal: American journal of medical genetics. Part A
Published: November 06, 2025
Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center.
Journal: American journal of medical genetics. Part A
Published: July 08, 2025
Benefits and barriers to broad implementation of genomic sequencing in the NICU.
Journal: American journal of human genetics
Published: January 17, 2025
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.
Journal: American journal of human genetics
Published: October 21, 2024
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Journal: Bioinformatics (Oxford, England)
Published: June 09, 2023
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: May 01, 2023
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection.
Journal: PloS one
Published: January 19, 2023
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.
Journal: The Journal of clinical investigation
Published: April 01, 2022
A single-cell atlas of mouse lung development.
Journal: Development (Cambridge, England)
Published: February 09, 2021
Age-determined expression of priming protease TMPRSS2 and localization of SARS-CoV-2 infection in the lung epithelium.
Journal: bioRxiv : the preprint server for biology
Published: June 09, 2020
Age-determined expression of priming protease TMPRSS2 and localization of SARS-CoV-2 in lung epithelium.
Journal: The Journal of clinical investigation
Published: June 01, 2020
Last Updated: 09/26/2026