A photo of Wenying Zhang, MD, PhD.

Wenying Zhang, MD, PhD, MBA, FACMG

  • Director, Genetics and Genomics Diagnostic Laboratory, Division of Human Genetics
  • Associate Professor, UC Department of Pediatrics


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

Services and Specialties


Research Areas

Human Genetics


Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Du, X; Glass, JE; Balow, S; Dyer, LM; Rathbun, PA; Guan, Q; Liu, J; Wu, Y; Dawson, DB; Walters-Sen, L; et al. 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. Indugula, SR; Ayala, SS; Vetrini, F; Belonis, A; Zhang, W. Clinical Case Reports. 2022; 10.

Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction. Collyer, J; Xu, F; Munkhsaikhan, U; Alberson, NF; Orgil, BO; Zhang, W; Czosek, RJ; Lu, L; Jefferies, JL; Towbin, JA; et al. International Journal of Cardiology. 2022; 347:29-37.

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. Shoda, T; Kaufman, KM; Wen, T; Caldwell, JM; Osswald, GA; Purnima, P; Zimmermann, N; Collins, MH; Rehn, K; Foote, H; et al. Nature Communications. 2021; 12.

Epilepsy phenotypes associated with MAP1B-related brain malformations. Arya, R; Spaeth, C; Zhang, W. Epileptic Disorders. 2021; 23:392-396.

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Niss, O; Lorsbach, RB; Berger, M; Chonat, S; McLemore, M; Buchbinder, D; McCavit, T; Shaffer, LG; Simpson, J; Schwartz, JH; et al. Blood Cells, Molecules, and Diseases. 2021; 87.

VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. Seu, KG; Trump, LR; Emberesh, S; Lorsbach, RB; Johnson, C; Meznarich, J; Underhill, HR; Chou, ST; Sakthivel, H; Nassar, NN; et al. American Journal of Human Genetics. 2020; 107:1149-1156.

Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance. Nemeth, BC; Orekhova, A; Zhang, W; Nortman, SA; Thompson, T; Hegyi, P; Abu-El-Haija, M. Gut. 2020; 69:790-792.

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR). Niss, O; Lorsbach, RB; Buchbinder, DK; Chonat, S; McLemore, ML; McCavit, T; Schwartz, JH; Meznarich, J; Seu, K; Zhang, W; et al. Blood. 2019; 134:3521-3521.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. DiStefano, MT; Hemphill, SE; Oza, AM; Siegert, RK; Grant, AR; Hughes, MY; Cushman, BJ; Azaiez, H; Booth, KT; Chapin, A; et al. Genetics in Medicine. 2019; 21:2239-2247.