Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas A Piotrowski, J Xie, YF Liu, AB Poplawski, AR Gomes, P Madanecki, C Fu, ... Nature genetics 46 (2), 182-187, 2014 | 270 | 2014 |
NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome M Hölzel, S Huang, J Koster, I Øra, A Lakeman, H Caron, W Nijkamp, ... Cell 142 (2), 218-229, 2010 | 227 | 2010 |
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype … K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ... Human mutation 36 (11), 1052-1063, 2015 | 189 | 2015 |
Genetic polymorphism analysis of CYP2C19 in Chinese Han populations from different geographic areas of mainland China L Chen, S Qin, J Xie, J Tang, L Yang, W Shen, X Zhao, J Du, G He, ... Future Medicine Ltd 9 (6), 691-702, 2008 | 119 | 2008 |
Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China S Qin, L Shen, A Zhang, J Xie, W Shen, L Chen, J Tang, Y Xiong, L Yang, ... Genomics 92 (3), 152-158, 2008 | 73 | 2008 |
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines E Conboy, R Dhamija, M Wang, J Xie, PJ Dyck, AG Bridges, RJ Spinner, ... Journal of medical genetics 53 (2), 123-126, 2016 | 28 | 2016 |
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation P Kannu, M Nour, M Irving, J Xie, D Loder, J Lai, O Islam, J MacKenzie, ... Clinical genetics 83 (2), 191-194, 2013 | 13 | 2013 |
NF1 Germline and Somatic Mosaicism L Messiaen, J Xie Neurofibromatosis Type 1, 151-172, 2012 | 6 | 2012 |