Rita Shiang
Affiliations: | Human Genetics | Virginia Commonwealth University, Richmond, VA, United States |
Area:
GeneticsGoogle:
"Rita Shiang"Children
Sign in to add trainee| Sinitdhorn Rujirabanjerd | grad student | 2003 | VCU |
| Sami S. Amr | grad student | 2010 | VCU |
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Publications
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| Man Y, Shang X, Liu C, et al. (2022) Whole-Exome Sequencing Identifies the VHL Mutation (c.262T > C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma. Current Oncology (Toronto, Ont.). 29: 2376-2384 |
| Li W, Huang Q, Zhang L, et al. (2021) A single amino acid mutation in the mouse MEIG1 protein disrupts a cargo transport system necessary for sperm formation. The Journal of Biological Chemistry. 101312 |
| Rymer K, Shiang R, Hsiung A, et al. (2019) Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. Molecular Genetics & Genomic Medicine. e656 |
| Potter AB, Rhodes JL, Vega RA, et al. (2015) Gene expression changes between patent and fused cranial sutures in a nonsyndromic craniosynostosis population. Eplasty. 15: e12 |
| Jones MA, Amr S, Ferebee A, et al. (2014) Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biology Open. 3: 342-52 |
| Chung SK, Bode A, Cushion TD, et al. (2013) GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics. 22: 927-40 |
| Carta E, Chung SK, James VM, et al. (2012) Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. The Journal of Biological Chemistry. 287: 28975-85 |
| Chung SK, Vanbellinghen JF, Mullins JG, et al. (2010) Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 9612-20 |
| Amr S, Heisey C, Zhang M, et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. American Journal of Human Genetics. 81: 673-83 |
| Rees MI, Harvey K, Pearce BR, et al. (2006) Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics. 38: 801-6 |