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

About

Publications

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.

The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Chonat, S; Risinger, M; Sakthivel, H; Niss, O; Rothman, JA; Hsieh, L; Chou, ST; Kwiatkowski, JL; Khandros, E; Gorman, MF; et al. Frontiers in Physiology. 2019; 10.

The novel c.1120A>G (p.K374E) variant of the CPA1 gene cause misfolding-induced hereditary pancreatitis. Németh, B; Orekhova, A; Zhang, W; Nortman, SA; Thomson, T; Hegyi, P; Abu-El-Haija, M. Pancreatology. 2019; 19.

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy. Aljeaid, D; Isabel Sanchez, A; Wakefield, E; Chadwell, SE; Moore, N; Prada, CE; Zhang, W. American Journal of Medical Genetics, Part A. 2019; 179:608-614.

Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity. Risinger, M; Christakopoulos, GE; Schultz, CL; McGann, PT; Zhang, W; Kalfa, TA. Pediatric Blood and Cancer. 2019; 66.