| Year |
Citation |
Score |
| 2022 |
Man Y, Shang X, Liu C, Zhang W, Huang Q, Ma S, Shiang R, Zhang F, Zhang L, Zhang Z. 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. PMID 35448166 DOI: 10.3390/curroncol29040192 |
0.363 |
|
| 2021 |
Li W, Huang Q, Zhang L, Liu H, Zhang D, Yuan S, Yap Y, Qu W, Shiang R, Song S, Hess RA, Zhang Z. 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. PMID 34673028 DOI: 10.1016/j.jbc.2021.101312 |
0.374 |
|
| 2019 |
Rymer K, Shiang R, Hsiung A, Pandya A, Bigdeli T, Webb BT, Rhodes J. Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. Molecular Genetics & Genomic Medicine. e656. PMID 31016899 DOI: 10.1002/Mgg3.656 |
0.367 |
|
| 2015 |
Potter AB, Rhodes JL, Vega RA, Ridder T, Shiang R. Gene expression changes between patent and fused cranial sutures in a nonsyndromic craniosynostosis population. Eplasty. 15: e12. PMID 25987937 |
0.459 |
|
| 2014 |
Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M. 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. PMID 24705017 DOI: 10.1242/Bio.20147559 |
0.583 |
|
| 2013 |
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Longhardt AC, Raile V, Weschke B, et al. GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics. 22: 927-40. PMID 23184146 DOI: 10.1093/Hmg/Dds498 |
0.409 |
|
| 2012 |
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, ... ... Shiang R, et al. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. The Journal of Biological Chemistry. 287: 28975-85. PMID 22700964 DOI: 10.1074/Jbc.M112.372094 |
0.439 |
|
| 2010 |
Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, et al. 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. PMID 20631190 DOI: 10.1523/Jneurosci.1763-10.2010 |
0.397 |
|
| 2007 |
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. American Journal of Human Genetics. 81: 673-83. PMID 17846994 DOI: 10.1086/520961 |
0.571 |
|
| 2006 |
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics. 38: 801-6. PMID 16751771 DOI: 10.1038/Ng1814 |
0.452 |
|
| 2006 |
Shows KH, Ward C, Summers L, Li L, Ziegler GR, Hendrickx AG, Shiang R. Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 17: 168-77. PMID 16465596 DOI: 10.1007/s00335-005-0079-y |
0.314 |
|
| 2004 |
Mogass M, York TP, Li L, Rujirabanjerd S, Shiang R. Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. Biochemical and Biophysical Research Communications. 325: 124-32. PMID 15522210 DOI: 10.1016/J.Bbrc.2004.10.004 |
0.481 |
|
| 2002 |
Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, et al. Mutations in ANKH cause chondrocalcinosis. American Journal of Human Genetics. 71: 933-40. PMID 12297987 DOI: 10.1086/343054 |
0.467 |
|
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