Last Updated: 09/26/2026
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Found 15 publications
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.
Journal: Pediatric neurology
Published: March 06, 2026
Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.
Journal: American journal of human genetics
Published: October 16, 2025
A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 29, 2025
Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.
Journal: Journal of neurodevelopmental disorders
Published: September 16, 2025
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.
Journal: JIMD reports
Published: April 02, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Journal: Nature medicine
Published: January 28, 2025
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 13, 2024
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Journal: Therapeutic advances in rare disease
Published: January 31, 2024
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations.
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations.
Journal: Molecular genetics and metabolism reports
Published: January 22, 2024
Airway Findings in Patients with Hunter Syndrome Treated with Intravenous Idursulfase.
Journal: Journal of clinical medicine
Published: December 17, 2022
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: September 08, 2022
Quality of care metrics for patients with inborn errors of metabolism.
Journal: Molecular genetics and metabolism
Published: January 12, 2022
Last Updated: 09/26/2026