I am board certified in Clinical Genetic and Genomics as well as Medical Biochemical Genetics. I have more than 20 year experience of working with diagnosis and treatment of rare genetic and metabolic diseases. Specifically, I have extensive experience on using genomic approach such as whole exome sequencing to make a new diagnosis for individual with rare and undiagnosed disease in children and adult. My clinical expertise spans children with rare inborn error of metabolism, Angelman and Prader-Willi syndrome, SHANK3 and Phelan-McDermid syndrome, HIST1H1E associated disorders, autism spectrum disorder.
Yale New Haven Children’s Hospital