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
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.
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.
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells, Molecules, and Diseases. 2021; 87:102534.
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. The American Journal of Human Genetics. 2020; 107:1149-1156.
Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance. Gut. 2020; 69:790-792.
Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR). Blood. 2019; 134:3521.