Last Updated: 09/26/2026
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Found 44 publications
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.
Journal: medRxiv : the preprint server for health sciences
Published: June 22, 2026
The Need for Clinical Diagnostic Proficiency in the Genomic Era.
Journal: Pediatrics
Published: February 13, 2026
Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare Transition and Independent Living.
Journal: Research square
Published: January 09, 2026
Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?
Journal: Journal of inherited metabolic disease
Published: July 14, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.
Journal: American journal of human genetics
Published: June 25, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Journal: American journal of human genetics
Published: May 02, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Journal: Annals of neurology
Published: March 04, 2025
Case of Infant With Metabolic Crisis From Lactational Hypoglycin A and Fatty Acid Defect.
Journal: Pediatrics
Published: February 18, 2025
A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.
Journal: American journal of medical genetics. Part A
Published: January 24, 2025
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.
Journal: American journal of medical genetics. Part A
Published: September 03, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease.
Journal: Journal of inherited metabolic disease
Published: June 24, 2024
Last Updated: 09/26/2026