Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases. Stefanovics, R; Sándor, M; Demcsák, A; Berke, G; Németh, BC; Zhang, W; Abu-El-Haija, M; Sahin-Tóth, M. 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. Coppola, T; Hughes, H; Finch, PT; Hess, JA; Wu, S; Prada, CE; Miethke, AG; Zhang, W; Kalfa, TA. 2024; 3:1331485.

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Schmidt, RJ; Steeves, M; Bayrak-Toydemir, P; Benson, KA; Coe, BP; Conlin, LK; Ganapathi, M; Garcia, J; Gollob, MH; Jobanputra, V; Niu, N; Richards, S; Chen, W; Fan, Y. Genetics in Medicine. 2024; 26:101036.

Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation. Ceolan, J; Seu, K; Ntoumaziou, A; Elgammal, Y; Emberesh, S; Bilston, L; Richards, D; Dickerson, KE; Chonat, S; Rydz, N; Lutzko, C; Husami, A; Zhang, W; Kalfa, TA. Blood. 2023; 142:2459.

Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR). Elgammal, Y; Risinger, M; Husami, A; Walden, J; Gupta, S; Shah, NC; Boyer, J; Abajas, YL; Winstead, M; Miller, DW; Lorsbach, R; Zhang, W; Kalfa, TA; Niss, O. 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. Baker, EK; Han, J; Langley, WA; Reott, MA; Hallinan, BE; Hopkin, RJ; Zhang, W. Molecular Genetics and Genomics: an international journal. 2023; 298:1185-1199.

Hemolytic anemia and macrothrombocytopenia: A lipid problem?. Risinger, M; Kim, PS; Rodriguez, RX; Narvaez Rivas, M; Setchell, KD R; Zhang, W; Kalfa, TA. American Journal of Hematology. 2023; 98:1335-1340.

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts. Voulgaridou, A; Elgammal, Y; Husami, A; Emberesh, S; Seu, K; Ramamoorthy, M; Trump, L; Barasa, N; Nelson, AS; Lorsbach, RB; Romano, L; Salomonis, NA; Zhang, W; Lutzko, C; Kalfa, TA. Blood. 2022; 140:1234-1235.

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; Smolarek, TA; Zhang, W. 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:e05370.