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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
Epilepsy phenotypes associated with MAP1B-related brain malformations.
Arya, R; Spaeth, C; Zhang, W.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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