• Source: Scopus
19982021

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Personal profile

Research interests

I joined the division of genetics and genomic medicine at St. Louis Children’s Hospital in September 2009. I am Board certified in Clinical Genetics and Medical Biochemical Genetics. My special interests are in genomics and genomic disorders, cytogenetic abnormalities, microarray technology, skeletal dysplasia, the genetic basis of autism, and metabolic conditions. I am using reverse genomics to characterize the phenotypes of genomic disorders with special focus on 16p11.2 rearrangements. I am working to develop novel methods for detection of metabolic conditions. I am a co-director of the Women and Infants’ Health Specimen Consortium (WIHSC) and am investigating metabolomics and feto-maternal interaction during pregnancy.

Areas of Clinical Interest

genetic counseling, birth defects, screening for newborns, inborn metabolic diseases, genetic syndromes, familial cancer syndromes, chromosomal abnormalities, autism spectrum disorders, cytogenetic abnormalities, microarray technology, and metabolic conditions, skeletal dysplasia

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