Last Updated: 09/26/2026
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Found 29 publications
Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.
Journal: Molecular therapy. Methods & clinical development
Published: June 11, 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Journal: American journal of human genetics
Published: August 07, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Journal: American journal of human genetics
Published: June 11, 2024
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Journal: American journal of human genetics
Published: May 25, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Journal: Nature communications
Published: May 13, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Journal: European journal of human genetics : EJHG
Published: July 23, 2020
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.
Journal: International journal of neonatal screening
Published: May 01, 2020
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Journal: Biological psychiatry
Published: March 27, 2019
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Journal: NPJ genomic medicine
Published: November 11, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Journal: American journal of medical genetics. Part A
Published: May 19, 2017
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Journal: BMC medical genetics
Published: June 22, 2016
Last Updated: 09/26/2026