MD: Peking University Health Science Center, Beijing, China.
PhD: University of Wisconsin, Madison, WI.
Fellowship: Clinical Molecular Genetics and Clinical Cytogenetics, Children’s Hospital of Philadelphia, Philadelphia, PA.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics. 2022; 15.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of Autism and Developmental Disorders. 2022; 52:4828-4842.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?. Journal of Molecular Diagnostics. 2022; 24:274-286.
A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review. American Journal of Medical Genetics, Part A. 2021; 185:1864-1869.
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth Defects Research. 2020; 112:1733-1737.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. Journal of Molecular Diagnostics. 2019; 21:38-48.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine. 2018; 20:1600-1608.
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genetics in Medicine. 2017; 19:715-718.
Nutritional control of epigenetic processes in yeast and human cells. Genetics. 2013; 195:831-844.
Cellular memory of acquired stress resistance in Saccharomyces cerevisiae. Genetics. 2012; 192:495-505.