| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 222 | 2019 |
| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 174 | 2018 |
| Phenotypic expansion illuminates multilocus pathogenic variation E Karaca, JE Posey, Z Coban Akdemir, D Pehlivan, T Harel, SN Jhangiani, ... Genet Med, 2018 | 118 | 2018 |
| 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 |
| 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 |
| Megabase length hypermutation accompanies human structural variation at 17p11. 2 CR Beck, CMB Carvalho, ZC Akdemir, FJ Sedlazeck, X Song, Q Meng, ... Cell 176 (6), 1310-1324. e10, 2019 | 65 | 2019 |
| 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 |
| Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies B Yuan, J Neira, D Pehlivan, T Santiago-Sim, X Song, J Rosenfeld, ... Genetics in Medicine 21 (3), 663-675, 2019 | 59 | 2019 |
| 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 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 43 | 2019 |
| Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome) N Assia Batzir, JE Posey, X Song, ZC Akdemir, JA Rosenfeld, CW Brown, ... American Journal of Medical Genetics Part A 182 (1), 38-52, 2020 | 40 | 2020 |
| Pilot clinical trial of perioperative durvalumab and tremelimumab in the treatment of resectable colorectal cancer liver metastases P Kanikarla Marie, C Haymaker, ER Parra, YU Kim, R Lazcano, S Gite, ... Clinical Cancer Research 27 (11), 3039-3049, 2021 | 32 | 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 |
| Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants V Bahrambeigi, X Song, K Sperle, CR Beck, H Hijazi, CM Grochowski, ... Genome Medicine 11, 1-17, 2019 | 29 | 2019 |
| 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 |
| Baylor-Hopkins Center for Mendelian Genomics Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... Am. J. Hum. Genet 103, 171-187, 2018 | 26 | 2018 |
| Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay M Morimoto, H Waller-Evans, Z Ammous, X Song, KA Strauss, D Pehlivan, ... The American Journal of Human Genetics 103 (5), 794-807, 2018 | 24 | 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 |
| Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome H Hijazi, FS Coelho, C Gonzaga‐Jauregui, L Bernardini, SS Mar, ... Human mutation 41 (1), 150-168, 2020 | 19 | 2020 |
James LupskiBaylor College of MedicineVerified email at bcm.edu
