Last Updated: 09/26/2026
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Found 12 publications
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource.
Journal: Nature
Published: July 31, 2025
Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.
Journal: Diabetologia
Published: February 10, 2025
Human CD33 deficiency is associated with mild alteration of circulating white blood cell counts.
Journal: PLoS genetics
Published: September 09, 2024
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Journal: The New England journal of medicine
Published: April 24, 2024
Identification and characterization of human GDF15 knockouts.
Journal: Nature metabolism
Published: March 29, 2024
Development of a clinical polygenic risk score assay and reporting workflow.
Journal: Nature medicine
Published: July 22, 2021
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Journal: American journal of human genetics
Published: July 20, 2021
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2021
Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
Journal: The Journal of molecular diagnostics : JMD
Published: May 27, 2021
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Journal: JAMA network open
Published: April 30, 2020
Automated typing of red blood cell and platelet antigens from whole exome sequences.
Journal: Transfusion
Published: May 09, 2019
Inference and Evolutionary Analysis of Genome-Scale Regulatory Networks in Large Phylogenies.
Journal: Cell systems
Published: September 23, 2016
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Last Updated: 09/26/2026