Christina Magyar - Publications
Affiliations: | 2021- | Genetics and Genomics | Baylor College of Medicine, Houston, TX |
Year | Citation | Score | |||
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2022 | Xu W, Graves A, Weisz-Hubshman M, Hegazy L, Magyar C, Liu Z, Nasiotis E, Samee MAH, Burris T, Lalani S, Zhang L. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum. Human Molecular Genetics. PMID 36229919 DOI: 10.1093/hmg/ddac252 | 0.497 | |||
2022 | Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. American Journal of Medical Genetics. Part A. PMID 35194938 DOI: 10.1002/ajmg.a.62704 | 0.622 | |||
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