MD, MS: Peking University Health Science Center, Beijing, China.
PhD: Rutgers University, New Brunswick, NJ.
Fellowship: Clinical Molecular Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH.
Certification: American Board of Medical Genetics in Clinical Molecular Genetics, 2011.
Clinical molecular genetics; whole exome sequencing; molecular genetic diagnosis of hereditary cardiovascular diseases, genetic blood disorders, and other genetic conditions
Genetics
Human Genetics
Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation. Blood. 2023; 142:2459.
Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR). Blood. 2023; 142:1079.
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature. Molecular Genetics and Genomics: an international journal. 2023; 298:1185-1199.
Hemolytic anemia and macrothrombocytopenia: A lipid problem?. American Journal of Hematology. 2023; 98:1335-1340.
De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts. Blood. 2022; 140:1234-1235.
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.
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report. Clinical Case Reports. 2022; 10:e05370.
Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction. International Journal of Cardiology. 2022; 347:29-37.
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. Nature Communications. 2021; 12:6795.
Epilepsy phenotypes associated with MAP1B-related brain malformations. Epileptic Disorders: international epilepsy journal with videotape. 2021; 23:392-396.