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Maria Chahrour
Maria Chahrour
在 utsouthwestern.edu 的电子邮件经过验证 - 首页
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引用次数
年份
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...
Nature 515 (7526), 209-215, 2014
28082014
MeCP2, a key contributor to neurological disease, activates and represses transcription
M Chahrour, SY Jung, C Shaw, X Zhou, STC Wong, J Qin, HY Zoghbi
Science 320 (5880), 1224-1229, 2008
19982008
The story of Rett syndrome: from clinic to neurobiology
M Chahrour, HY Zoghbi
Neuron 56 (3), 422-437, 2007
14482007
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
12612010
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation
G Dobreva, M Chahrour, M Dautzenberg, L Chirivella, B Kanzler, I Fariñas, ...
Cell 125 (5), 971-986, 2006
6142006
Using whole-exome sequencing to identify inherited causes of autism
WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ...
Neuron 77 (2), 259-273, 2013
5252013
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
S Ben-Shachar, M Chahrour, C Thaller, CA Shaw, HY Zoghbi
Human molecular genetics 18 (13), 2431-2442, 2009
2702009
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
MH Chahrour, TW Yu, ET Lim, B Ataman, ME Coulter, RS Hill, ...
PLoS genetics 8 (4), e1002635, 2012
2332012
The diverse genetic landscape of neurodevelopmental disorders
WF Hu, MH Chahrour, CA Walsh
Annual review of genomics and human genetics 15 (1), 195-213, 2014
1942014
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ...
Nature genetics 49 (4), 527-536, 2017
1372017
Evolution of Osteocrin as an activity-regulated factor in the primate brain
B Ataman, GL Boulting, DA Harmin, MG Yang, M Baker-Salisbury, EL Yap, ...
Nature 539 (7628), 242-247, 2016
1372016
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ...
elife 6, e25730, 2017
1112017
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
LD Heckman, MH Chahrour, HY Zoghbi
Elife 3, e02676, 2014
1032014
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
RLP Santos, M Wajid, MN Khan, N McArthur, TL Pham, A Bhatti, K Lee, ...
Human mutation 26 (4), 396-396, 2005
712005
Current perspectives in autism spectrum disorder: from genes to therapy
M Chahrour, BJ O'Roak, E Santini, RC Samaco, RJ Kleiman, MC Manzini
Journal of Neuroscience 36 (45), 11402-11410, 2016
682016
MeCP2 and histone deacetylases 1 and 2 in dorsal striatum collectively suppress repetitive behaviors
M Mahgoub, M Adachi, K Suzuki, X Liu, ET Kavalali, MH Chahrour, ...
Nature neuroscience 19 (11), 1506-1512, 2016
392016
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26. 33–q27. 3
M Aslam, MH Chahrour, A Razzaq, S Haque, K Yan, SM Leal, W Ahmad
Journal of medical genetics 41 (11), 849-852, 2004
382004
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
R Khalil, C Kenny, RS Hill, GH Mochida, R Nasir, JN Partlow, BJ Barry, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018
352018
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
S Cheon, K Kaur, N Nijem, IO Tuncay, P Kumar, M Dean, J Juusola, ...
Proceedings of the National Academy of Sciences 116 (9), 3662-3667, 2019
332019
Candidate genes for inherited autism susceptibility in the Lebanese population
S Kourtian, J Soueid, NJ Makhoul, DR Guisso, M Chahrour, ...
Scientific reports 7 (1), 45336, 2017
322017
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