| Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements X Song, CR Beck, R Du, IM Campbell, Z Coban-Akdemir, S Gu, ... Genome Research 28 (8), 1228-1242, 2018 | 87 | 2018 |
| Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification R Du, C Lu, Z Jiang, S Li, R Ma, H An, M Xu, Y An, Y Xia, L Jin, X Wang, ... Journal of human genetics 57 (8), 545-551, 2012 | 75 | 2012 |
| The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating … J Liu, Y Zhou, S Liu, X Song, XZ Yang, Y Fan, W Chen, ZC Akdemir, Z Yan, ... Human genetics 137, 553-567, 2018 | 67 | 2018 |
| Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) K Wang, S Zhao, B Liu, Q Zhang, Y Li, J Liu, Y Shen, X Ding, J Lin, Y Wu, ... Journal of medical genetics 55 (10), 675-684, 2018 | 64 | 2018 |
| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene … J Liu, N Wu, ... Genetics in Medicine 21 (7), 1548-1558, 2019 | 63 | 2019 |
| Evaluation of copy number variation detection for a SNP array platform X Zhang, R Du, S Li, F Zhang, L Jin, H Wang BMC bioinformatics 15, 1-9, 2014 | 58 | 2014 |
| Whole-exome sequencing identifies novel variants for tooth agenesis N Dinckan, R Du, LE Petty, Z Coban-Akdemir, SN Jhangiani, I Paine, ... Journal of Dental Research 97 (1), 49-59, 2018 | 53 | 2018 |
| NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy Y Jiang, Y Zhang, P Zhang, T Sang, F Zhang, T Ji, Q Huang, H Xie, R Du, ... Human genetics 131, 1217-1224, 2012 | 49 | 2012 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) S Zhao, Y Zhang, W Chen, W Li, S Wang, L Wang, Y Zhao, M Lin, Y Ye, ... Journal of medical genetics 58 (1), 41-47, 2021 | 41 | 2021 |
| TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease W Chen, J Lin, L Wang, X Li, S Zhao, J Liu, ZC Akdemir, Y Zhao, R Du, ... Human mutation 41 (1), 182-195, 2020 | 30 | 2020 |
| Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis R Du, N Dinckan, X Song, Z Coban-Akdemir, SN Jhangiani, Y Guven, ... Human genetics 137, 689-703, 2018 | 26 | 2018 |
| Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy L Ge, A Liu, K Gao, R Du, J Ding, B Mao, Y Hua, X Zhang, D Tan, H Yang, ... Scientific Reports 8 (1), 14989, 2018 | 23 | 2018 |
| Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD) K Wang, S Zhao, Q Zhang, J Yuan, J Liu, X Ding, X Song, J Lin, R Du, ... Journal of human genetics 63 (11), 1119-1128, 2018 | 22 | 2018 |
| Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy J Ding, D Zhao, R Du, Y Zhang, H Yang, J Liu, C Yan, F Zhang, H Xiong Brain and development 38 (2), 242-249, 2016 | 21 | 2016 |
| Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome Z Peng, W Zhou, W Fu, R Du, L Jin, F Zhang Human molecular genetics 24 (5), 1225-1233, 2015 | 21 | 2015 |
| Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11. 2 microdeletion syndrome N Yang, N Wu, S Dong, L Zhang, Y Zhao, W Chen, R Du, C Song, X Ren, ... Kidney international 98 (4), 1020-1030, 2020 | 20 | 2020 |
| Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice X Ren, N Yang, N Wu, X Xu, W Chen, L Zhang, Y Li, RQ Du, S Dong, ... Journal of medical genetics 57 (6), 371-379, 2020 | 20 | 2020 |
| SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans J Guan, D Wang, W Cao, Y Zhao, R Du, H Yuan, Q Liu, L Lan, L Zong, ... Journal of human genetics 61 (11), 917, 2016 | 15 | 2016 |
| Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease LA Robak, R Du, B Yuan, S Gu, I Alfradique-Dunham, V Kondapalli, ... Neurology: Genetics 6 (5), e498, 2020 | 13 | 2020 |
Feng ZhangProfessor of Genetics, Fudan UniversityVerified email at fudan.edu.cn
