Area of research
Clinical Biochemistry · Rheumatology
Research interest
Research interests include Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Genomics and Rare Diseases, and Lysosomal Storage Disorders Research.
The Progress and Future of US Newborn Screening
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies
Ethical Issues Surrounding Newborn Screening
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening
We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening (P1.6-052)
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Including ELSI research questions in newborn screening pilot studies
Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment
Newborn screening for spinal muscular atrophy: Anticipating an imminent need
Phenylketonuria Scientific Review Conference: State of the science and future research needs
Appropriateness of Newborn Screening for α1‐Antitrypsin Deficiency
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
REU Site: Undergraduate Research in Nuclear and Particle Physics at TUNL and Duke University
REU Site: Undergraduate Research in Nuclear and Particle Physics at TUNL and Duke University
Collaborative Research: ARI-MA: Nuclear Data Measurements Using Gamma Rays and Radiation Detector Development
Using Inverse Analysis to Tailor Micro-Nanopatterned Surfaces for Desired Spectrally and Directionally Dependent Radiative Properties
REU Site: Undergraduate Research in Nuclear Physics at TUNL/Duke University
IDBR: Development of a System for Measuring Dynamic Biological Responses in Plants using Coincidence Counting
ARI-MA: Collaborative Research: Nuclear Data Measurements on Actinides Using the High Intensity Gamma-ray Source
Pan-American Advanced Studies Institutes (PASI): Program on Predictive Process Dynamics for Manufacturing (PPDM) to be held in Porto Alegre, Brazil in June 2007.
Support for the Seventeenth International IUPAP Conference on Few-Body Physics
Inverse Design of Thermal Systems with Predominant Radiation
Support for Workshop on Submerged Combustion in Porous Media
Heat Transfer Prediction to Supercritical Fluids (SGER)
US-Russia Workshop: Heat Transfer in Highly Coupled Physical Systems (Austin, Texas; October 1993)
Improved Method For Engineering Analysis of Radiative Transfer in Industrial Furnaces
Acquisition of an Analytical Electron Microscope