Massachusetts General Hospital | MassGeneral Hospital for Children

Biography

Dr. Yu is interested in elucidating the geneticbasis of autism and mental retardation. Over 90% of his time is devoted to research at Children's Hospital.  Dr. Yu sees patients at the Lurie Center,where he evaluates, diagnoses, and treats children and adults with autism andother neurodevelopmental diseases.

Research

Dr. Yu's research has focused on developing novel, cutting-edge research tools to identify neurologic disease genes.  From 2008-2010, he successfully pioneered the use of genome-scale sequencing technologies to identify a novel human disease gene, WDR62 responsible for microcephaly and abnormal brain gyrification.  The publication of this work in Nature Genetics was one of the first reports of using next-generation sequencing for human disease gene discovery.  Dr. Yu has since applied these technologies to familial autism, and characterized a large cohort of >50 families with autism. With other researchers, Dr. Yu applied for and received a NIH Grand Opportunity grant to continue this approach for identifying novel autism genes by sequencing entire exomes of over two hundred autism patients. The results suggest that whole-exome sequencing in familial autism can uncover both known and novel genetic causes of autism in nearly one-third of patients, compared to the current estimated baseline rate of 10-15%.

Publications

View my most recent publications at PubMed