Rita Shiang

Human Genetics Virginia Commonwealth University, Richmond, VA, United States 
"Rita Shiang"


Sign in to add trainee
Sinitdhorn Rujirabanjerd grad student 2003 VCU
Sami S. Amr grad student 2010 VCU
BETA: Related publications


You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect.

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
See more...