| Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ... Nature genetics 49 (11), 1593-1601, 2017 | 720 | 2017 |
| Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 123 | 2020 |
| De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus CG Furey, J Choi, SC Jin, X Zeng, AT Timberlake, C Nelson-Williams, ... Neuron 99 (2), 302-314. e4, 2018 | 122 | 2018 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 111 | 2018 |
| Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus SC Jin, W Dong, AJ Kundishora, S Panchagnula, A Moreno-De-Luca, ... Nature medicine 26 (11), 1754-1765, 2020 | 98 | 2020 |
| Mutations in chromatin modifier and ephrin signaling genes in vein of Galen malformation D Duran, X Zeng, SC Jin, J Choi, C Nelson-Williams, B Yatsula, J Gaillard, ... Neuron 101 (3), 429-443. e4, 2019 | 72 | 2019 |
| EphrinB2-EphB4-RASA1 signaling in human cerebrovascular development and disease X Zeng, A Hunt, SC Jin, D Duran, J Gaillard, KT Kahle Trends in molecular medicine 25 (4), 265-286, 2019 | 42 | 2019 |
| The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus SM Robert, BC Reeves, E Kiziltug, PQ Duy, JK Karimy, MS Mansuri, ... Cell 186 (4), 764-785. e21, 2023 | 28 | 2023 |
| ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India RAH Kuchay, YR Mir, X Zeng, A Hassan, J Musarrat, I Parwez, ... The Cerebellum 18, 807-812, 2019 | 27 | 2019 |
| Exome sequencing implicates impaired GABA signaling and neuronal ion transport in trigeminal neuralgia W Dong, SC Jin, A Allocco, X Zeng, AH Sheth, S Panchagnula, ... IScience 23 (10), 2020 | 26 | 2020 |
| SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus SC Jin, CG Furey, X Zeng, A Allocco, C Nelson‐Williams, W Dong, ... Molecular Genetics & Genomic Medicine, e892, 2019 | 23 | 2019 |
| Recessive inheritance of congenital hydrocephalus with other structural brain abnormalities caused by compound heterozygous mutations in ATP1A3 AA Allocco, SC Jin, PQ Duy, CG Furey, X Zeng, W Dong, ... Frontiers in Cellular Neuroscience 13, 425, 2019 | 17 | 2019 |
| Human genetics and molecular mechanisms of congenital hydrocephalus CG Furey, X Zeng, W Dong, SC Jin, J Choi, AT Timberlake, AM Dunbar, ... World neurosurgery 119, 441-443, 2018 | 14 | 2018 |
| Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations S Zhao, KY Mekbib, MA van der Ent, G Allington, A Prendergast, JE Chau, ... Nature communications 14 (1), 7452, 2023 | 6 | 2023 |
| Rare pathogenic variants in WNK3 cause X-linked intellectual disability S Küry, J Zhang, T Besnard, A Caro-Llopis, X Zeng, SM Robert, SS Josiah, ... Genetics in Medicine 24 (9), 1941-1951, 2022 | 6 | 2022 |
| Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir RAH Kuchay, YR Mir, X Zeng, A Hassan, K Namba, M Tekin International journal of pediatric otorhinolaryngology 130, 109831, 2020 | 6 | 2020 |
| Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease M Li, X Zeng, C Jin, SC Jin, W Dong, M Brueckner, R Lifton, Q Lu, H Zhao Quantitative Biology 9 (2), 216-227, 2021 | 5 | 2021 |
| Quantifying concordant genetic effects of de novo mutations on multiple disorders H Guo, L Hou, Y Shi, SC Jin, X Zeng, B Li, RP Lifton, M Brueckner, H Zhao, ... Elife 11, e75551, 2022 | 4 | 2022 |
| Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations S Zhao, KY Mekbib, MA van der Ent, G Allington, A Prendergast, JE Chau, ... bioRxiv, 2023.03. 18.532837, 2023 | 2 | 2023 |
| Radiation necrosis with proton therapy in a patient with Aarskog-Scott syndrome and medulloblastoma V Puthenpura, NJ DeNunzio, X Zeng, D Giantsoudi, M Aboian, D Ebb, ... International Journal of Particle Therapy 8 (3), 58-65, 2022 | 2 | 2022 |
