Last Updated: 09/26/2026
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Found 50 publications
Updates to gene-disease classifications and inheritance patterns for porphyrias.
Journal: Molecular genetics and metabolism
Published: December 22, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Journal: JIMD reports
Published: June 09, 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
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Journal: Molecular genetics and metabolism
Published: April 25, 2023
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.
Journal: Molecular genetics and metabolism reports
Published: January 09, 2023
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome.
Journal: Molecular genetics and metabolism reports
Published: August 05, 2022
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
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.
Journal: Molecular genetics and metabolism reports
Published: May 13, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Journal: Nature communications
Published: May 13, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Journal: Cold Spring Harbor molecular case studies
Published: February 26, 2021
Last Updated: 09/26/2026