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; American Board of Medical Genetics in Labratory of Genetics and Genomics, 2021.
Clinical molecular genetics; whole exome sequencing; molecular genetic diagnosis of hereditary cardiovascular diseases, genetic blood disorders, and other genetic conditions
Genetics
Human Genetics
Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. BMC Pediatrics. 2024; 24:34.
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center. Journal of Clinical Immunology. 2024; 44:166.
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children. Clinical Gastroenterology and Hepatology. 2024; 22:2033-2043.e2.
Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 2024; 24:690-697.
Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation. 2024; 3:1331485.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in Medicine. 2024; 26:101036.
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.