γ-secretase gene mutations in familial acne inversa B Wang, W Yang, W Wen, J Sun, B Su, B Liu, D Ma, D Lv, Y Wen, T Qu, ... Science 330 (6007), 1065-1065, 2010 | 503 | 2010 |
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis C Wang, Y Li, L Shi, J Ren, M Patti, T Wang, JRM de Oliveira, MJ Sobrido, ... Nature Genetics, 2012 | 414 | 2012 |
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic … Y Liu, Y Ramot, A Torrelo, AS Paller, N Si, S Babay, PW Kim, A Sheikh, ... Arthritis & Rheumatism 64 (3), 895-907, 2012 | 389 | 2012 |
Oral cancer in vivo gene expression profiling assisted by laser capture microdissection and microarray analysis. I Alevizos, M Mahadevappa, X Zhang, H Ohyama, Y Kohno, M Posner, ... Oncogene 20 (43), 6196, 2001 | 303 | 2001 |
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines. H Tsao, X Zhang, E Benoit, FG Haluska Oncogene 16 (26), 3397, 1998 | 295 | 1998 |
Relative reciprocity of NRAS and PTEN/MMAC1 alterations in cutaneous melanoma cell lines H Tsao, X Zhang, K Fowlkes, FG Haluska Cancer research 60 (7), 1800, 2000 | 288 | 2000 |
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, ... New England Journal of Medicine 372 (4), 341-350, 2015 | 273 | 2015 |
Deletions of chromosome 13q, mutations in Retinoblastoma 1, and retinoblastoma protein state in human hepatocellular carcinoma X Zhang, HJ Xu, Y Murakami, R Sachse, K Yashima, S Hirohashi, SX Hu, ... Cancer research 54 (15), 4177, 1994 | 244 | 1994 |
MicroRNA-335 acts as a metastasis suppressor in gastric cancer by targeting Bcl-w and specificity protein 1 Y Xu, F Zhao, Z Wang, Y Song, Y Luo, X Zhang, L Jiang, Z Sun, Z Miao, ... Oncogene 31 (11), 1398-1407, 2012 | 234 | 2012 |
MicroRNA-148b is frequently down-regulated in gastric cancer and acts as a tumor suppressor by inhibiting cell proliferation YX Song, ZY Yue, ZN Wang, YY Xu, Y Luo, HM Xu, X Zhang, L Jiang, ... Molecular cancer 10, 1-13, 2011 | 231 | 2011 |
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ... Nature genetics 41 (2), 228-233, 2009 | 213 | 2009 |
Gain-of-function mutations in SCN11A cause familial episodic pain XY Zhang, J Wen, W Yang, C Wang, L Gao, LH Zheng, T Wang, K Ran, ... The American Journal of Human Genetics 93 (5), 957-966, 2013 | 204 | 2013 |
Laser capture microdissection-generated target sample for high-density oligonucleotide array hybridization H Ohyama, X Zhang, Y Kohno, I Alevizos, M Posner, DT Wong, R Todd Biotechniques 29 (3), 530-536, 2000 | 194 | 2000 |
Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer M Sun, F Ma, X Zeng, Q Liu, XL Zhao, FX Wu, GP Wu, ZF Zhang, B Gu, ... Journal of medical genetics 45 (9), 589-595, 2008 | 135 | 2008 |
A highly conserved processed PTEN pseudogene is located on chromosome band 9p21. PL Dahia, MG FitzGerald, X Zhang, DJ Marsh, Z Zheng, T Pietsch, ... Oncogene 16 (18), 2403, 1998 | 132 | 1998 |
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome X Zhao, M Sun, J Zhao, JA Leyva, H Zhu, W Yang, X Zeng, Y Ao, Q Liu, ... The American Journal of Human Genetics 80 (2), 361-371, 2007 | 130 | 2007 |
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression Q Liu, Z Qi, XH Wan, JY Li, L Shi, Q Lu, XQ Zhou, L Qiao, LW Wu, XQ Liu, ... Journal of Medical Genetics 49 (2), 79-82, 2012 | 122 | 2012 |
p12DOC-1 Is a Novel Cyclin-Dependent Kinase 2-Associated Protein S Shintani, H Ohyama, X Zhang, J McBride, K Matsuo, T Tsuji, MG Hu, ... Molecular and cellular biology 20 (17), 6300-6307, 2000 | 120 | 2000 |
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract T Zhang, R Hua, W Xiao, KP Burdon, SS Bhattacharya, JE Craig, D Shang, ... Human Mutation 30 (5), E603-E611, 2009 | 118 | 2009 |
Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma H Tsao, X Zhang, K Kwitkiwski, DM Finkelstein, AJ Sober, FG Haluska Archives of dermatology 136 (9), 1118-1122, 2000 | 107 | 2000 |