| Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes HT Chao, H Chen, RC Samaco, M Xue, M Chahrour, J Yoo, JL Neul, ... Nature 468 (7321), 263-269, 2010 | 1297 | 2010 |
| MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number HT Chao, HY Zoghbi, C Rosenmund Neuron 56 (1), 58-65, 2007 | 575 | 2007 |
| Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities RC Samaco, C Mandel-Brehm, HT Chao, CS Ward, SL Fyffe-Maricich, ... Proceedings of the National Academy of Sciences 106 (51), 21966-21971, 2009 | 288 | 2009 |
| Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress SL Fyffe, JL Neul, RC Samaco, HT Chao, S Ben-Shachar, P Moretti, ... Neuron 59 (6), 947-958, 2008 | 283 | 2008 |
| Distinct domains of complexin I differentially regulate neurotransmitter release M Xue, K Reim, X Chen, HT Chao, H Deng, J Rizo, N Brose, ... Nature structural & molecular biology 14 (10), 949-958, 2007 | 261 | 2007 |
| A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome RC Samaco, JD Fryer, J Ren, S Fyffe, HT Chao, Y Sun, JJ Greer, ... Human molecular genetics 17 (12), 1718-1727, 2008 | 215 | 2008 |
| Model organisms facilitate rare disease diagnosis and therapeutic research MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ... Genetics 207 (1), 9-27, 2017 | 200 | 2017 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 192 | 2017 |
| Math1 is essential for the development of hindbrain neurons critical for perinatal breathing MF Rose, J Ren, KA Ahmad, HT Chao, TJ Klisch, A Flora, JJ Greer, ... Neuron 64 (3), 341-354, 2009 | 170 | 2009 |
| Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity M Xue, TK Craig, J Xu, HT Chao, J Rizo, C Rosenmund Nature structural & molecular biology 17 (5), 568-575, 2010 | 159 | 2010 |
| Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome M Jiang, RT Ash, SA Baker, B Suter, A Ferguson, J Park, J Rudy, ... Journal of Neuroscience 33 (50), 19518-19533, 2013 | 148 | 2013 |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ... The Journal of clinical investigation 131 (1), 2021 | 145 | 2021 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 122 | 2017 |
| MeCP2: only 100% will do HT Chao, HY Zoghbi Nature neuroscience 15 (2), 176-177, 2012 | 83 | 2012 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 78 | 2019 |
| Identification of novel candidate disease genes from de novo exonic copy number variants T Gambin, B Yuan, W Bi, P Liu, JA Rosenfeld, Z Coban-Akdemir, ... Genome medicine 9, 1-15, 2017 | 67 | 2017 |
| Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy W Chen, ZL Cai, ES Chao, H Chen, CM Longley, S Hao, HT Chao, ... Elife 9, e48705, 2020 | 60 | 2020 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 58 | 2020 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 57 | 2020 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 55 | 2019 |
Huda ZoghbiProfessor Baylor College of MedicineEmail verificata su bcm.edu