受强制性开放获取政策约束的文章 - Hsiao-Tuan Chao了解详情
无法在其他位置公开访问的文章：1 篇
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case …
M Handoko, LT Emrick, JA Rosenfeld, X Wang, AA Tran, A Turner, ...
American Journal of Medical Genetics Part A 179 (3), 475-479, 2019
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：74 篇
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Autism …
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Autism …
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
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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
强制性开放获取政策： German Research Foundation
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
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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
强制性开放获取政策： US National Science Foundation, US National Institutes of Health, Howard …
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
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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
强制性开放获取政策： US National Institutes of Health
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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
强制性开放获取政策： US National Institutes of Health
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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
强制性开放获取政策： US National Institutes of Health, US Department of Veterans Affairs, US …
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Wellcome …
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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
强制性开放获取政策： US National Institutes of Health
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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
强制性开放获取政策： US National Institutes of Health, Wellcome Trust
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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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Citizen’s …
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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
强制性开放获取政策： US National Institutes of Health
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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
强制性开放获取政策： US National Institutes of Health, Australian Research Council, National …
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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
强制性开放获取政策： US National Institutes of Health, Wellcome Trust
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In vivo functional study of disease-associated rare human variants using Drosophila
JM Harnish, SL Deal, UD Network, HT Chao, MF Wangler, S Yamamoto
Journal of visualized experiments: JoVE, 10.3791/59658, 2019
强制性开放获取政策： US National Institutes of Health
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