| A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes ME MacDonald, CM Ambrose, MP Duyao, RH Myers, C Lin, L Srinidhi, ... Cell 72 (6), 971-983, 1993 | 2280 | 1993 |
| Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia R Shiang, LM Thompson, YZ Zhu, DM Church, TJ Fielder, M Bocian, ... Cell 78 (2), 335-342, 1994 | 1611 | 1994 |
| Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ... Nature genetics 9 (3), 321-328, 1995 | 692 | 1995 |
| Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia R Shiang, SG Ryan, YZ Zhu, AF Hahn, P O'Connell, JJ Wasmuth Nature genetics 5 (4), 351-358, 1993 | 581 | 1993 |
| A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2 S Amr, C Heisey, M Zhang, XJ Xia, KH Shows, K Ajlouni, A Pandya, ... The American Journal of Human Genetics 81 (4), 673-683, 2007 | 302 | 2007 |
| Why do faculty leave? Reasons for attrition of women and minority faculty from a medical school: four-year results KL Cropsey, SW Masho, R Shiang, V Sikka, SG Kornstein, CL Hampton, ... Journal of women's health 17 (7), 1111-1118, 2008 | 257 | 2008 |
| Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines AC Lidral, JC Murray, KH Buetow, AM Basart, H Schearer, R Shiang, ... The Cleft palate-craniofacial journal 34 (1), 1-6, 1997 | 254 | 1997 |
| Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease MI Rees, K Harvey, BR Pearce, SK Chung, IC Duguid, P Thomas, ... Nature genetics 38 (7), 801-806, 2006 | 247 | 2006 |
| Mutations in ANKH cause chondrocalcinosis A Pendleton, MD Johnson, A Hughes, KA Gurley, AM Ho, M Doherty, ... The American Journal of Human Genetics 71 (4), 933-940, 2002 | 246 | 2002 |
| Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ... The American Journal of Human Genetics 68 (6), 1321-1326, 2001 | 217 | 2001 |
| A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse SG Ryan, MS Buckwalter, JW Lynch, CA Handford, L Segura, R Shiang, ... Nature genetics 7 (2), 131-135, 1994 | 214 | 1994 |
| Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia SK Chung, JF Vanbellinghen, JGL Mullins, A Robinson, J Hantke, ... Journal of Neuroscience 30 (28), 9612-9620, 2010 | 145 | 2010 |
| Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). R Shiang, AC Lidral, HH Ardinger, KH Buetow, PA Romitti, RG Munger, ... American journal of human genetics 53 (4), 836, 1993 | 135 | 1993 |
| Mutational analysis of familial and sporadic hyperekplexia R Shiang, SG Ryan, YZ Zhu, TJ Fielder, RJ Allen, A Fryer, S Yamashita, ... Annals of Neurology: Official Journal of the American Neurological …, 1995 | 132 | 1995 |
| Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I PL Tavormina, DL Rimoin, DH Cohn, YZ Zhu, R Shiang, JJ Wasmuth, ... Oxford University Press, 1995 | 122 | 1995 |
| Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and … J Dixon, K Hovanes, R Shiang, MJ Dixon Human molecular genetics 6 (5), 727-737, 1997 | 117 | 1997 |
| The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus ST Winokur, R Shiang Human molecular genetics 7 (12), 1947-1952, 1998 | 108 | 1998 |
| A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates KH Buetow, R Shiang, P Yang, Y Nakamura, GM Lathrop, R White, ... American journal of human genetics 48 (5), 911, 1991 | 92 | 1991 |
| Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Theilmann, S Kanani, R Shiang, C Robbins, O Quarrell, M Huggins, ... Journal of medical genetics 26 (11), 676-681, 1989 | 89 | 1989 |
| Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease E Carta, SK Chung, VM James, A Robinson, JL Gill, N Remy, ... Journal of Biological Chemistry 287 (34), 28975-28985, 2012 | 88 | 2012 |
