Last Updated: 09/26/2026
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Found 105 publications
A scalable approach to resolving variants of uncertain significance.
Journal: bioRxiv : the preprint server for biology
Published: February 23, 2026
Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.
Journal: JAMA cardiology
Published: October 29, 2025
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.
Journal: Journal of neuromuscular diseases
Published: October 28, 2025
Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.
Journal: Clinical chemistry
Published: October 07, 2025
A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.
Journal: Journal of medical economics
Published: September 04, 2025
Restoring trust in public health: communications lessons from person-centered health care.
Journal: European journal of public health
Published: March 25, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Journal: Orphanet journal of rare diseases
Published: December 23, 2024
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2024
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.
Journal: Molecular genetics and metabolism
Published: December 03, 2024
Teaching doctors journalism skills in the fellowship in journalism and health impact: A new way to build competence in advocacy.
Journal: Medical education
Published: November 21, 2024
One IV HEDGES DNA vector administration encoding hGLA or hGH produces durable hGLA and hGH serum lvels in immunocompetent mice.
Journal: PloS one
Published: September 05, 2024
Last Updated: 09/26/2026