| Molecular findings among patients referred for clinical whole-exome sequencing Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ... Jama 312 (18), 1870-1879, 2014 | 1462 | 2014 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 416 | 2017 |
| Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ... Nature communications 7 (1), 10713, 2016 | 292 | 2016 |
| Fragile X-related proteins regulate mammalian circadian behavioral rhythms J Zhang, Z Fang, C Jud, MJ Vansteensel, K Kaasik, CC Lee, U Albrecht, ... The American Journal of Human Genetics 83 (1), 43-52, 2008 | 135 | 2008 |
| Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models J Zhang, L Hou, E Klann, DL Nelson Journal of neurophysiology 101 (5), 2572-2580, 2009 | 124 | 2009 |
| Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ... The American Journal of Human Genetics, 2014 | 108 | 2014 |
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| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and … J Zhang, T Gambin, B Yuan, P Szafranski, JA Rosenfeld, MA Balwi, ... Human genetics 136, 377-386, 2017 | 49 | 2017 |
| Platelet factor 4 enhances the adhesion of normal and leukemic hematopoietic stem/progenitor cells to endothelial cells J Zhang, SH Lu, YJ Liu, Y Feng, ZC Han Leukemia research 28 (6), 631-638, 2004 | 24 | 2004 |
| Use of medical exome sequencing for identification of underlying genetic defects in NICU: experience in a cohort of 2303 neonates in China L Yang, Z Wei, X Chen, L Hu, X Peng, J Wang, C Lu, Y Kong, X Dong, ... Clinical Genetics 101 (1), 101-109, 2022 | 21 | 2022 |
| Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy L Meng, T Donti, F Xia, Z Niu, A Al Shamsi, J Hertecant, F Al‐Jasmi, ... American Journal of Medical Genetics Part A 173 (2), 460-470, 2017 | 19 | 2017 |
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| Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation P Makadia, A Srinath, S Madan-Khetarpal, M McGuire, E Infante, J Zhang, ... The journal of allergy and clinical immunology. In practice 5 (5), 1445-1447. e2, 2017 | 5 | 2017 |
| Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities W Tian, L Sun, Q Zhang, J Zhao, Y Guo, W Zhong, L Liu, K Meirelles, ... Molecular Genetics and Genomics 297 (2), 387-396, 2022 | 4 | 2022 |
| Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework JE Ross, S Mohan, J Zhang, MJ Sullivan, L Bury, K Lee, I Futchi, A Frantz, ... Journal of Thrombosis and Haemostasis 22 (3), 645-665, 2024 | 1 | 2024 |
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| Medical Exome As a First-Line Diagnostic Test in the Neonatal Intensive Care Unit: Experience in a Large Broad Cohort of 4,124 Neonates with Minimal Clinical Selection in China L Yang, Z Wei, C Xiang, L Hu, X Peng, J Wang, C Lu, Y Kong, X Dong, ... | | 2020 |
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David L NelsonBaylor College of MedicineVerified email at bcm.edu
