Molecular sensors for NMR-based detection Z Xu, C Liu, S Zhao, S Chen, Y Zhao Chemical reviews 119 (1), 195-230, 2018 | 104 | 2018 |
Molecular genetics and complex inheritance of congenital heart disease NS Diab, S Barish, W Dong, S Zhao, G Allington, X Yu, KT Kahle, ... Genes 12 (7), 1020, 2021 | 95 | 2021 |
Recent advances in mechanochemical C–H functionalization reactions S Zhao, Y Li, C Liu, Y Zhao Tetrahedron Letters 59 (4), 317-324, 2018 | 61 | 2018 |
DIAPH1 variants in non–east asian patients with sporadic moyamoya disease AJ Kundishora, ST Peters, A Pinard, D Duran, S Panchagnula, T Barak, ... JAMA neurology 78 (8), 993-1003, 2021 | 43 | 2021 |
Difluorocarbene-Mediated Cascade Cyclization: The Multifunctional Role of Ruppert–Prakash Reagent Y Cai, W Zhu, S Zhao, C Dong, Z Xu, Y Zhao Organic Letters 23 (9), 3546-3551, 2021 | 19 | 2021 |
Computational genomics in the era of precision medicine: applications to variant analysis and gene therapy YC Wang, Y Wu, J Choi, G Allington, S Zhao, M Khanfar, K Yang, PY Fu, ... Journal of Personalized Medicine 12 (2), 175, 2022 | 17 | 2022 |
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 | 16 | 2023 |
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts AJ Kundishora, G Allington, S McGee, KY Mekbib, V Gainullin, ... Nature medicine 29 (3), 667-678, 2023 | 10 | 2023 |
Facile Construction of Pyrrolo [1, 2-a] indolenine Scaffold via Diastereoselective [3+ 2] Annulation of Donor–Acceptor Cyclopropane with Indolenine J Li, JA Xiao, SJ Zhao, HY Xiang, H Yang Synthesis 49 (18), 4292-4298, 2017 | 10 | 2017 |
Human genetics and molecular genomics of Chiari malformation type 1 KY Mekbib, W Muñoz, G Allington, S McGee, NH Mehta, JP Shofi, ... Trends in Molecular Medicine 29 (12), 1059-1075, 2023 | 7 | 2023 |
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus AK Singh, G Allington, S Viviano, S McGee, E Kiziltug, S Ma, S Zhao, ... Brain 147 (4), 1553-1570, 2024 | 6 | 2024 |
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus PQ Duy, B Jux, S Zhao, KY Mekbib, E Dennis, W Dong, ... Brain 147 (12), 4292-4305, 2024 | 5 | 2024 |
Molecular genetics and complex inheritance of congenital heart disease. Genes. 2021; 12: 1020 NS Diab, S Barish, W Dong, S Zhao, G Allington, X Yu, KT Kahle, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | 3 | 2021 |
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics T DeSpenza Jr, A Singh, G Allington, S Zhao, J Lee, E Kiziltug, ML Prina, ... Proceedings of the National Academy of Sciences 121 (27), e2314702121, 2024 | 2 | 2024 |
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 |
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly G Allington, NH Mehta, E Dennis, KY Mekbib, B Reeves, E Kiziltug, ... Brain, awae395, 2024 | | 2024 |
345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing P Piwowarczyk, Q Moyer, KY Mekbib, AD Kappel, S Zhao, J Shohfi, ... Neurosurgery 69 (Supplement_1), 55, 2023 | | 2023 |
169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation KY Mekbib, S Zhao, C Nelson-Williams, A Prendergast, X Zeng, M Rolle, ... Neurosurgery 69 (Supplement_1), 22, 2023 | | 2023 |
Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants T DeSpenza Jr, E Kiziltug, G Allington, DG Barson, D O’Connor, ... bioRxiv, 2023.03. 18.533275, 2023 | | 2023 |