• 2264

Research activity per year

Personal profile

Research interests

I am a clinically active neonatologist and have a longstanding interest in understanding the genetic causes of birth defects and extreme phenotypes in infants and children. My research goals are (1) to use genomic sequencing technologies to identify the etiologies of birth defects and extreme phenotypes among infants and children and (2) to use functional studies to determine the disease mechanisms underlying these rare diseases. Specifically, our research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD) in infants and children. 

Clinical interests

newborn medicine


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