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.
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.