Area of research
Neurology · Pulmonary and Respiratory Medicine
Research interest
Research focused on Newborn screening and Craniosynostosis, with related work in Genetics, Locus (genetics), Spinal muscular atrophy. Notable publications include 'Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States', 'Pilot study of population-based newborn screening for spinal muscular atrophy in New York state', and 'A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9'.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Novel Pooling Strategies for Genetic Testing, with Application to Newborn Screening
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
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
A genetic basis for the variable effect of smoking/nicotine on Parkinson’s disease