Last Updated: 09/26/2026
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Found 46 publications
A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care.
Journal: Molecular genetics and metabolism
Published: June 15, 2026
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1.
Journal: Journal of inherited metabolic disease
Published: July 20, 2025
New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.
Journal: American journal of medical genetics. Part A
Published: February 28, 2025
Recruitment through empathy and education: The role of the clinical experience on workforce development.
Journal: Molecular genetics and metabolism
Published: December 09, 2024
Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 14, 2024
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography.
Journal: Molecular genetics and metabolism reports
Published: July 04, 2024
Hyperammonemia in the Pediatric Emergency Department.
Journal: Pediatric emergency care
Published: January 31, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2024
The clinical geneticist workforce: Community forums to address challenges and opportunities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 17, 2023
The impact of home-based call on sleep patterns and wellness in genetics and metabolism physicians compared with subspecialists.
Journal: Genetics in medicine open
Published: October 13, 2023
Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I.
Journal: Frontiers in endocrinology
Published: September 19, 2023
Last Updated: 09/26/2026