Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 RE Amir, IB Van den Veyver, M Wan, CQ Tran, U Francke, HY Zoghbi Nature genetics 23 (2), 185-188, 1999 | 6160 | 1999 |
Towards a proteome-scale map of the human protein–protein interaction network JF Rual, K Venkatesan, T Hao, T Hirozane-Kishikawa, A Dricot, N Li, ... Nature 437 (7062), 1173-1178, 2005 | 3595 | 2005 |
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 HT Orr, M Chung, S Banfi, TJ Kwiatkowski Jr, A Servadio, AL Beaudet, ... Nature genetics 4 (3), 221-226, 1993 | 2042 | 1993 |
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 | 2037 | 2008 |
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation RC Allen, HY Zoghbi, AB Moseley, HM Rosenblatt, JW Belmont American journal of human genetics 51 (6), 1229, 1992 | 1974 | 1992 |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ... Nature genetics 15 (1), 62-69, 1997 | 1930 | 1997 |
Trinucleotide repeat disorders HT Orr, HY Zoghbi Annu. Rev. Neurosci. 30 (1), 575-621, 2007 | 1669 | 2007 |
Glutamine repeats and neurodegeneration HY Zoghbi, HT Orr Annual review of neuroscience 23 (1), 217-247, 2000 | 1641 | 2000 |
The story of Rett syndrome: from clinic to neurobiology M Chahrour, HY Zoghbi Neuron 56 (3), 422-437, 2007 | 1478 | 2007 |
The DNA sequence of the human X chromosome MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ... Nature 434 (7031), 325-337, 2005 | 1433 | 2005 |
Math1: an essential gene for the generation of inner ear hair cells NA Bermingham, BA Hassan, SD Price, MA Vollrath, N Ben-Arie, ... Science 284 (5421), 1837-1841, 1999 | 1338 | 1999 |
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 | 1290 | 2010 |
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice IA Klement, PJ Skinner, MD Kaytor, H Yi, SM Hersch, HB Clark, ... Cell 95 (1), 41-53, 1998 | 1168 | 1998 |
Requirement of Math1 for secretory cell lineage commitment in the mouse intestine Q Yang, NA Bermingham, MJ Finegold, HY Zoghbi Science 294 (5549), 2155-2158, 2001 | 1126 | 2001 |
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1 CJ Cummings, MA Mancini, B Antalffy, DB DeFranco, HT Orr, HY Zoghbi Nature genetics 19 (2), 148-154, 1998 | 1059 | 1998 |
Diseases of unstable repeat expansion: mechanisms and common principles JR Gatchel, HY Zoghbi Nature Reviews Genetics 6 (10), 743-755, 2005 | 1023 | 2005 |
A protein–protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration J Lim, T Hao, C Shaw, AJ Patel, G Szabó, JF Rual, CJ Fisk, N Li, ... Cell 125 (4), 801-814, 2006 | 980 | 2006 |
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3 MD Shahbazian, JI Young, LA Yuva-Paylor, CM Spencer, BA Antalffy, ... Neuron 35 (2), 243-254, 2002 | 929 | 2002 |
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities HY Zoghbi, MF Bear Cold Spring Harbor perspectives in biology 4 (3), a009886, 2012 | 858 | 2012 |
Postnatal neurodevelopmental disorders: meeting at the synapse? HY Zoghbi Science 302 (5646), 826-830, 2003 | 831 | 2003 |