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| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... Human Genetics and Genomics Advances, 100074, 2021 | 25 | 2021 |
| Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome C Zhang, JF Mazzeu, J Eisfeldt, CM Grochowski, J White, ZC Akdemir, ... American Journal of Medical Genetics Part A 185 (12), 3593-3600, 2021 | 21 | 2021 |
| Extremity anomalies associated with Robinow syndrome A Abu‐Ghname, J Trost, MJ Davis, VR Sutton, C Zhang, DE Guillen, ... American Journal of Medical Genetics Part A 185 (12), 3584-3592, 2021 | 14 | 2021 |
| 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), 2020 | 14 | 2020 |
| Excess folic acid intake increases DNA de novo point mutations X Cao, J Xu, YL Lin, RM Cabrera, Q Chen, C Zhang, JW Steele, X Han, ... Cell Discovery 9 (1), 22, 2023 | 12 | 2023 |
| Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome AR Lima*, BM Ferreira*, C Zhang*, A Jolly, H Du, JJ White, M Dawood, ... Human Mutation, 2022 | 11 | 2022 |
| Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form BJ Shayota, C Zhang, RJ Shypailo, JF Mazzeu, CMB Carvalho, VR Sutton American Journal of Medical Genetics Part A 182 (11), 2632-2640, 2020 | 9 | 2020 |
| New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population J Zheng, W Meng, C Zhang, H Liu, J Yao, H Wang, Y Chen, M Guan Journal of Zhejiang University. Science. B 20 (2), 164, 2019 | 5 | 2019 |
| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome C Zhang, A Jolly, BJ Shayota, JF Mazzeu, H Du, M Dawood, PC Soper, ... | | 2021 |
James LupskiBaylor College of MedicineVerified email at bcm.edu
