Area of research
Clinical Biochemistry · Genetics
Research interest
Research focused on Newborn screening and Genetics, with related work in Pediatrics, Spinal muscular atrophy, Craniosynostosis. Notable publications include 'Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States', 'The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants', and 'Pilot study of population-based newborn screening for spinal muscular atrophy in New York state'.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Are we prepared to deliver gene‐targeted therapies for rare diseases?
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Genomic analyses in African populations identify novel risk loci for cleft palate
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders