Huda Y. Zoghbi - Publications

Affiliations: 
Baylor College of Medicine, Houston, TX 
Area:
SCA1, SCA7, Rett's syndrome, and Math1

322 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, ... ... Zoghbi HY, et al. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proceedings of the National Academy of Sciences of the United States of America. PMID 31591222 DOI: 10.1073/pnas.1912858116  0.92
2019 Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex. Eneuro. PMID 31562178 DOI: 10.1523/ENEURO.0134-19.2019  0.72
2019 Lavery LA, Zoghbi HY. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Current Opinion in Neurobiology. 59: 180-188. PMID 31542590 DOI: 10.1016/j.conb.2019.08.001  0.64
2019 Meng X, McGraw CM, Wang W, Jing J, Yeh SY, Wang L, Lopez J, Brown AM, Lin T, Chen W, Xue M, Sillitoe RV, Jiang X, Zoghbi HY. Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions. Elife. 8. PMID 31524598 DOI: 10.7554/eLife.46773  1
2019 Suh J, Romano DM, Nitschke L, Herrick SP, DiMarzio BA, Dzhala V, Bae JS, Oram MK, Zheng Y, Hooli B, Mullin K, Gennarino VA, Wasco W, Schmahmann JD, Albers MW, ... Zoghbi HY, et al. Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 178: 1159-1175.e17. PMID 31442405 DOI: 10.1016/j.cell.2019.07.043  0.52
2019 Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, et al. Intellectual and Developmental Disabilities Research Centers: 50 Years of Scientific Accomplishments. Annals of Neurology. PMID 31206741 DOI: 10.1002/ana.25531  1
2019 Jeong HH, Kim SY, Rousseaux MWC, Zoghbi HY, Liu Z. Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives. Genome Research. PMID 31015259 DOI: 10.1101/gr.245571.118  0.72
2019 Huichalaf CH, Al-Ramahi I, Park KW, Grunke SD, Lu N, Haro M, El-Zein K, Gallego-Flores T, Perez AM, Jung SY, Botas J, Zoghbi HY, Jankowsky JL. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Human Molecular Genetics. PMID 30753434 DOI: 10.1093/hmg/ddz034  0.56
2019 Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL, Zoghbi HY. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Molecular Psychiatry. PMID 30696942 DOI: 10.1038/s41380-018-0325-9  0.72
2019 Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, ... Zoghbi HY, et al. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Molecular Psychiatry. PMID 30610205 DOI: 10.1038/s41380-018-0324-x  0.84
2018 Friedrich J, Kordasiewicz HB, O'Callaghan B, Handler HP, Wagener C, Duvick L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, ... ... Zoghbi HY, et al. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. Jci Insight. 3. PMID 30385727 DOI: 10.1172/jci.insight.123193  0.84
2018 De Maio A, Yalamanchili HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, Zoghbi HY. RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Reports. 25: 726-736.e7. PMID 30332651 DOI: 10.1016/j.celrep.2018.09.041  0.84
2018 Rousseaux MWC, Vázquez-Vélez GE, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, Ye H, Phan ET, Deger JM, Perez AM, Kim JY, Lavery LA, Xu Q, Li MZ, Kang H, ... ... Zoghbi HY, et al. A druggable genome screen identifies modifiers of α-synuclein levels via a tiered cross-species validation approach. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 30249792 DOI: 10.1523/JNEUROSCI.0254-18.2018  0.72
2018 Ash RT, Fahey PG, Park J, Zoghbi HY, Smirnakis SM. Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome. Eneuro. 5. PMID 30105297 DOI: 10.1523/ENEURO.0056-17.2018  0.72
2018 Raman AT, Pohodich AE, Wan YW, Yalamanchili HK, Lowry WE, Zoghbi HY, Liu Z. Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nature Communications. 9: 3225. PMID 30104565 DOI: 10.1038/s41467-018-05627-1  0.72
2018 Tan Q, Zoghbi HY. Mouse models as a tool for discovering new neurological diseases. Neurobiology of Learning and Memory. PMID 30030131 DOI: 10.1016/j.nlm.2018.07.006  0.56
2018 Kee SE, Mou X, Zoghbi HY, Ji D. Impaired spatial memory codes in a mouse model of Rett syndrome. Elife. 7. PMID 30028675 DOI: 10.7554/eLife.31451  0.68
2018 van der Heijden ME, Zoghbi HY. Loss of from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice. Elife. 7. PMID 29972353 DOI: 10.7554/eLife.38455  0.44
2018 Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Garcia J, Park J, Orr HT, Botas J, Zoghbi HY. PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in Spinocerebellar ataxia type 1. Human Molecular Genetics. PMID 29860311 DOI: 10.1093/hmg/ddy200  0.84
2018 Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim JY, Lombardi LM, Sun Y, Liu Z, Zoghbi HY. Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nature Neuroscience. 21: 794-798. PMID 29802390 DOI: 10.1038/s41593-018-0155-8  1
2018 Pérez Ortiz JM, Mollema N, Toker N, Adamski CJ, O'Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S. Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiology of Disease. PMID 29758256 DOI: 10.1016/j.nbd.2018.05.002  0.84
2018 Pohodich AE, Yalamanchili H, Raman AT, Wan YW, Gundry M, Hao S, Jin H, Tang J, Liu Z, Zoghbi HY. Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 7. PMID 29570050 DOI: 10.7554/eLife.34031  0.72
2018 Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, ... ... Zoghbi HY, et al. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. PMID 29526553 DOI: 10.1016/j.neuron.2018.02.013  0.84
2018 Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, ... ... Zoghbi HY, et al. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 172: 924-936.e11. PMID 29474920 DOI: 10.1016/j.cell.2018.02.006  0.72
2018 Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, Zoghbi HY. Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Disease Models & Mechanisms. PMID 29419414 DOI: 10.1242/dmm.032623  0.84
2018 Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102: 296-308. PMID 29395075 DOI: 10.1016/j.ajhg.2018.01.005  1
2018 Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, Zoghbi HY. Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proceedings of the National Academy of Sciences of the United States of America. PMID 29382756 DOI: 10.1073/pnas.1716452115  0.72
2017 Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY. Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. Elife. 6. PMID 29168692 DOI: 10.7554/eLife.31181  0.92
2017 Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, Zoghbi HY. An RNA interference screen identifies druggable regulators of MeCP2 stability. Science Translational Medicine. 9. PMID 28835516 DOI: 10.1126/scitranslmed.aaf7588  0.92
2017 Rose Xie W, Jen HI, Seymour ML, Yeh SY, Pereira FA, Groves AK, Klisch TJ, Zoghbi HY. An Atoh1-S193A phospho-mutant allele causes hearing deficits and motor impairment. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 28729444 DOI: 10.1523/JNEUROSCI.0295-17.2017  0.92
2017 Jeong HH, Kim SY, Rousseaux MW, Zoghbi HY, Liu Z. CRISPRcloud: A secure cloud-based pipeline for CRISPR pooled screen deconvolution. Bioinformatics (Oxford, England). PMID 28541456 DOI: 10.1093/bioinformatics/btx335  0.72
2017 Yeh SY, Huang WH, Wang W, Ward CS, Chao ES, Wu Z, Tang B, Tang J, Sun JJ, Esther van der Heijden M, Gray PA, Xue M, Ray RS, Ren D, Zoghbi HY. Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. PMID 28392070 DOI: 10.1016/j.neuron.2017.03.024  1
2017 Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, ... ... Zoghbi HY, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/ng.3808  0.96
2016 Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY. Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Human Molecular Genetics. PMID 28007900 DOI: 10.1093/hmg/ddw337  0.84
2016 Bhat N, Park J, Zoghbi HY, Arthur JS, Zaret KS. The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. Plos One. 11: e0166703. PMID 27973548 DOI: 10.1371/journal.pone.0166703  0.72
2016 Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nature Neuroscience. 19: 1408-1417. PMID 27786181 DOI: 10.1038/nn.4420  0.64
2016 Rousseaux MW, de Haro M, Lasagna-Reeves CA, De Maio A, Park J, Jafar-Nejad P, Al-Ramahi I, Sharma A, See L, Lu N, Vilanova-Velez L, Klisch TJ, Westbrook TF, Troncoso JC, Botas J, ... Zoghbi HY, et al. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 5. PMID 27779468 DOI: 10.7554/eLife.19809  0.92
2016 Lasagna-Reeves CA, de Haro M, Hao S, Park J, Rousseaux MW, Al-Ramahi I, Jafar-Nejad P, Vilanova-Velez L, See L, De Maio A, Nitschke L, Wu Z, Troncoso JC, Westbrook TF, Tang J, ... ... Zoghbi HY, et al. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. PMID 27720485 DOI: 10.1016/j.neuron.2016.09.022  0.84
2016 Lu H, Ash RT, He L, Kee SE, Wang W, Yu D, Hao S, Meng X, Ure K, Ito-Ishida A, Tang B, Sun Y, Ji D, Tang J, Arenkiel BR, ... ... Zoghbi HY, et al. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. PMID 27499081 DOI: 10.1016/j.neuron.2016.07.018  1
2016 Meng X, Wang W, Lu H, He LJ, Chen W, Chao E, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 5. PMID 27328325 DOI: 10.7554/eLife.14199  1
2016 Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett Syndrome. Elife. 5. PMID 27328321 DOI: 10.7554/eLife.14198  0.72
2016 Ingram M, Wozniak EA, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT. Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways. Neuron. PMID 26948890 DOI: 10.1016/j.neuron.2016.02.011  1
2016 Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harbor Perspectives in Biology. 8. PMID 26834142 DOI: 10.1101/cshperspect.a019497  1
2016 Quan XJ, Yuan L, Tiberi L, Claeys A, De Geest N, Yan J, van der Kant R, Xie WR, Klisch TJ, Shymkowitz J, Rousseau F, Bollen M, Beullens M, Zoghbi HY, Vanderhaeghen P, et al. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 164: 460-475. PMID 26824657 DOI: 10.1016/j.cell.2015.12.048  0.32
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 4. PMID 26673892 DOI: 10.7554/eLife.10891  0.84
2015 Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. PMID 26605526 DOI: 10.1038/nature16159  1
2015 Ito-Ishida A, Ure K, Chen H, Swann JW, Zoghbi HY. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 88: 651-658. PMID 26590342 DOI: 10.1016/j.neuron.2015.10.029  1
2015 Hao S, Tang B, Wu Z, Ure K, Sun Y, Tao H, Gao Y, Patel AJ, Curry DJ, Samaco RC, Zoghbi HY, Tang J. Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. Nature. 526: 430-4. PMID 26469053 DOI: 10.1038/nature15694  1
2015 Zoghbi HY, Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, et al. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 4. PMID 26312503 DOI: 10.7554/eLife.10782  1
2015 Baker SA, Lombardi LM, Zoghbi HY. Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2. The Journal of Biological Chemistry. 290: 22485-93. PMID 26245896 DOI: 10.1074/jbc.M115.658104  1
2015 Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. The Journal of Clinical Investigation. 125: 2914-23. PMID 26237041 DOI: 10.1172/JCI78167  0.8
2015 Pohodich AE, Zoghbi HY. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Human Molecular Genetics. 24: R10-6. PMID 26060191 DOI: 10.1093/hmg/ddv217  1
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Elife. 4. PMID 25988806 DOI: 10.7554/eLife.07558  0.84
2015 Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 112: 5509-14. PMID 25870282 DOI: 10.1073/pnas.1505909112  1
2015 Cai T, Jen HI, Kang H, Klisch TJ, Zoghbi HY, Groves AK. Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 5870-83. PMID 25855195 DOI: 10.1523/JNEUROSCI.5083-14.2015  1
2015 Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 160: 1087-98. PMID 25768905 DOI: 10.1016/j.cell.2015.02.012  1
2015 Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y. Deficiency of Capicua disrupts bile acid homeostasis. Scientific Reports. 5: 8272. PMID 25653040 DOI: 10.1038/srep08272  1
2015 Rousseaux MW, Zoghbi HY. Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. Jama Neurology. 72: 259-60. PMID 25560048 DOI: 10.1001/jamaneurol.2014.4109  1
2015 Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Human Molecular Genetics. 24: 1813-23. PMID 25432536 DOI: 10.1093/hmg/ddu595  1
2015 Lasagna-Reeves CA, Rousseaux MWC, Guerrero-Munoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic Ataxin-1 oligomers in SCA1 Elife. 4: 1-46. DOI: 10.7554/eLife.07558  1
2015 Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: From the clinic to mice and back Journal of Clinical Investigation. 125: 2914-2923. DOI: 10.1172/JCI78167  1
2015 Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. Correction: MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome (Proceedings of the National Academy of Sciences of the United States of America (2015) 112, 17 (5509-5514) DOI: 10.1073/pnas.1505909112) Proceedings of the National Academy of Sciences of the United States of America. 112: E2982. DOI: 10.1073/pnas.1507794112  1
2014 Zoghbi HY. From anatomy to electrophysiology: clinical Lasker goes deep. Cell. 158: 1225-9. PMID 25215480 DOI: 10.1016/j.cell.2014.08.021  1
2014 Heckman LD, Chahrour MH, Zoghbi HY. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 3. PMID 24970834 DOI: 10.7554/eLife.02676  1
2014 Tupal S, Huang WH, Picardo MC, Ling GY, Del Negro CA, Zoghbi HY, Gray PA. Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice. Elife. 3: e02265. PMID 24842997 DOI: 10.7554/eLife.02265  1
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Zoghbi HY, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/gim.2014.22  0.64
2014 Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Zoghbi HY, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/j.ajhg.2014.01.002  1
2014 Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. Journal of Autism and Developmental Disorders. 44: 703-11. PMID 23921973 DOI: 10.1007/s10803-013-1902-z  1
2014 Maricich SM, Zoghbi HY. Dominantly Inherited Spinocerebellar Syndromes Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 1003-1032. DOI: 10.1016/B978-0-12-417044-5.00050-0  1
2014 Zoghbi HY, Greengard P. What women need to succeed in science :Attracting females to research careers-and keeping them there Scientist. 28.  1
2013 Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 19518-33. PMID 24336718 DOI: 10.1523/JNEUROSCI.1745-13.2013  1
2013 Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, ... Zoghbi HY, et al. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 503: 72-7. PMID 24153177 DOI: 10.1038/nature12630  1
2013 Perroud B, Jafar-Nejad P, Wikoff WR, Gatchel JR, Wang L, Barupal DK, Crespo-Barreto J, Fiehn O, Zoghbi HY, Kaddurah-Daouk R. Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects. Plos One. 8: e70610. PMID 23936457 DOI: 10.1371/journal.pone.0070610  1
2013 Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J. Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 9328-36. PMID 23719801 DOI: 10.1523/JNEUROSCI.3465-12.2013  1
2013 Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, ... ... Zoghbi HY, et al. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 498: 325-31. PMID 23719381 DOI: 10.1038/nature12204  1
2013 Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. Plos Genetics. 9: e1003359. PMID 23555280 DOI: 10.1371/journal.pgen.1003359  1
2013 Ebner BA, Ingram MA, Barnes JA, Duvick LA, Frisch JL, Clark HB, Zoghbi HY, Ebner TJ, Orr HT. Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 5806-20. PMID 23536093 DOI: 10.1523/JNEUROSCI.6311-11.2013  1
2013 Kim E, Lu HC, Zoghbi HY, Song JJ. Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. Genes & Development. 27: 590-5. PMID 23512657 DOI: 10.1101/gad.212068.112  1
2013 Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 152: 984-96. PMID 23452848 DOI: 10.1016/j.cell.2013.01.038  1
2013 Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HY. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes & Development. 27: 485-90. PMID 23431031 DOI: 10.1101/gad.207456.112  1
2013 Zoghbi HY. The basics of translation. Science (New York, N.Y.). 339: 250. PMID 23329019 DOI: 10.1126/science.1234799  1
2013 Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Human Molecular Genetics. 22: 96-109. PMID 23026749 DOI: 10.1093/hmg/dds406  1
2013 Zoghbi H. Curiosity and observation Biotechniques. 55: 53. DOI: 10.2144/000114060  1
2013 Opal P, Zoghbi H. The Hereditary Ataxias Emery and Rimoin's Principles and Practice of Medical Genetics. 1-32. DOI: 10.1016/B978-0-12-383834-6.00125-7  1
2012 Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Science Translational Medicine. 4: 163ra158. PMID 23220634 DOI: 10.1126/scitranslmed.3004430  1
2012 Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, ... ... Zoghbi HY, et al. Preclinical research in Rett syndrome: setting the foundation for translational success. Disease Models & Mechanisms. 5: 733-45. PMID 23115203 DOI: 10.1242/dmm.011007  1
2012 Hughes V, Sheng M, Zoghbi H. Childhood disorders of the synapse: challenges and opportunities. Science Translational Medicine. 4: 152ps17. PMID 22993293 DOI: 10.1126/scitranslmed.3004356  1
2012 Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 75: 799-809. PMID 22958821 DOI: 10.1016/j.neuron.2012.06.027  1
2012 Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nature Neuroscience. 15: 176-7. PMID 22281712 DOI: 10.1038/nn.3027  1
2012 Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harbor Perspectives in Biology. 4. PMID 22258914 DOI: 10.1101/cshperspect.a009886  1
2012 Samaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nature Genetics. 44: 206-11. PMID 22231481 DOI: 10.1038/ng.1066  1
2012 Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, Dent SY. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Human Molecular Genetics. 21: 394-405. PMID 22002997 DOI: 10.1093/hmg/ddr474  1
2011 Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science (New York, N.Y.). 334: 690-3. PMID 22053053 DOI: 10.1126/science.1212673  1
2011 Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Developmental Cell. 21: 746-57. PMID 22014525 DOI: 10.1016/j.devcel.2011.08.017  1
2011 Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, ... ... Zoghbi HY, et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nature Genetics. 43: 1074-81. PMID 21964572 DOI: 10.1038/ng.944  1
2011 Lai S, O'Callaghan B, Zoghbi HY, Orr HT. 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. The Journal of Biological Chemistry. 286: 34606-16. PMID 21835928 DOI: 10.1074/jbc.M111.238527  1
2011 Lai HC, Klisch TJ, Roberts R, Zoghbi HY, Johnson JE. In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 10859-71. PMID 21795538 DOI: 10.1523/JNEUROSCI.0445-11.2011  1
2011 Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 70: 806-8. PMID 21658575 DOI: 10.1016/j.neuron.2011.05.025  1
2011 Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Science Translational Medicine. 3: 86ra49. PMID 21653829 DOI: 10.1126/scitranslmed.3002166  1
2011 McGraw CM, Samaco RC, Zoghbi HY. Adult neural function requires MeCP2. Science (New York, N.Y.). 333: 186. PMID 21636743 DOI: 10.1126/science.1206593  1
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/hmg/ddr243  1
2011 Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Human Molecular Genetics. 20: 2204-12. PMID 21427130 DOI: 10.1093/hmg/ddr108  1
2011 Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. Journal of Child Neurology. 26: 288-94. PMID 21383226 DOI: 10.1177/0883073810380047  1
2011 Klisch TJ, Xi Y, Flora A, Wang L, Li W, Zoghbi HY. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proceedings of the National Academy of Sciences of the United States of America. 108: 3288-93. PMID 21300888 DOI: 10.1073/pnas.1100230108  1
2011 Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 108: 2142-7. PMID 21245341 DOI: 10.1073/pnas.1018748108  1
2011 Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Human Molecular Genetics. 20: 510-27. PMID 21078624 DOI: 10.1093/hmg/ddq496  1
2010 Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 468: 263-9. PMID 21068835 DOI: 10.1038/nature09582  1
2010 Zoghbi HY, Warren ST. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 68: 165-73. PMID 20955921 DOI: 10.1016/j.neuron.2010.10.015  1
2010 Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, Orr HT. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 67: 929-35. PMID 20869591 DOI: 10.1016/j.neuron.2010.08.022  1
2010 Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. Plos Genetics. 6: e1001021. PMID 20628574 DOI: 10.1371/journal.pgen.1001021  1
2010 White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. Plos Genetics. 6: e1000984. PMID 20548952 DOI: 10.1371/journal.pgen.1000984  1
2010 Akil H, Brenner S, Kandel E, Kendler KS, King MC, Scolnick E, Watson JD, Zoghbi HY. Medicine. The future of psychiatric research: genomes and neural circuits. Science (New York, N.Y.). 327: 1580-1. PMID 20339051 DOI: 10.1126/science.1188654  1
2009 Rose MF, Ahmad KA, Thaller C, Zoghbi HY. Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proceedings of the National Academy of Sciences of the United States of America. 106: 22462-7. PMID 20080794 DOI: 10.1073/pnas.0911579106  1
2009 Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/ana.21715  1
2009 Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proceedings of the National Academy of Sciences of the United States of America. 106: 21966-71. PMID 20007372 DOI: 10.1073/pnas.0912257106  1
2009 Flora A, Klisch TJ, Schuster G, Zoghbi HY. Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science (New York, N.Y.). 326: 1424-7. PMID 19965762 DOI: 10.1126/science.1181453  1
2009 Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 64: 341-54. PMID 19914183 DOI: 10.1016/j.neuron.2009.10.023  1
2009 Maricich SM, Xia A, Mathes EL, Wang VY, Oghalai JS, Fritzsch B, Zoghbi HY. Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 11123-33. PMID 19741118 DOI: 10.1523/JNEUROSCI.2232-09.2009  1
2009 Maricich SM, Wellnitz SA, Nelson AM, Lesniak DR, Gerling GJ, Lumpkin EA, Zoghbi HY. Merkel cells are essential for light-touch responses. Science (New York, N.Y.). 324: 1580-2. PMID 19541997 DOI: 10.1126/science.1172890  1
2009 Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT. Phosphorylation of ATXN1 at Ser776 in the cerebellum. Journal of Neurochemistry. 110: 675-86. PMID 19500214 DOI: 10.1111/j.1471-4159.2009.06164.x  1
2009 Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics. 18: 2431-42. PMID 19369296 DOI: 10.1093/hmg/ddp181  1
2009 Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, ... Zoghbi HY, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Human Molecular Genetics. 18: 2188-203. PMID 19324899 DOI: 10.1093/hmg/ddp151  1
2009 Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 106: 4577-8. PMID 19293386 DOI: 10.1073/pnas.0901518106  1
2009 Zoghbi HY. Rett syndrome: what do we know for sure? Nature Neuroscience. 12: 239-40. PMID 19238181 DOI: 10.1038/nn0309-239  1
2009 Miesegaes GR, Klisch TJ, Thaller C, Ahmad KA, Atkinson RC, Zoghbi HY. Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Developmental Biology. 327: 339-51. PMID 19135992 DOI: 10.1016/j.ydbio.2008.12.016  1
2009 Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT. Characterization of the zebrafish atxn1/axh gene family. Journal of Neurogenetics. 23: 313-23. PMID 19085187 DOI: 10.1080/01677060802399976  1
2009 Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. The Journal of Biological Chemistry. 284: 7425-9. PMID 18957430 DOI: 10.1074/jbc.R800041200  1
2008 Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 455: 912-8. PMID 18923513 DOI: 10.1038/nature07457  1
2008 Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 59: 947-58. PMID 18817733 DOI: 10.1016/j.neuron.2008.07.030  1
2008 Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. Plos Genetics. 4: e1000179. PMID 18773074 DOI: 10.1371/journal.pgen.1000179  1
2008 Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nature Neuroscience. 11: 1137-9. PMID 18758459 DOI: 10.1038/nn.2183  1
2008 Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proceedings of the National Academy of Sciences of the United States of America. 105: 11987-92. PMID 18687887 DOI: 10.1073/pnas.0804350105  1
2008 Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). 320: 1224-9. PMID 18511691 DOI: 10.1126/science.1153252  1
2008 Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 452: 713-8. PMID 18337722 DOI: 10.1038/nature06731  1
2008 Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 70: 1313-21. PMID 18337588 DOI: 10.1212/01.wnl.0000291011.54508.aa  1
2008 Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Human Molecular Genetics. 17: 1718-27. PMID 18321864 DOI: 10.1093/hmg/ddn062  1
2008 Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proceedings of the National Academy of Sciences of the United States of America. 105: 1291-6. PMID 18216249 DOI: 10.1073/pnas.0711257105  1
2007 Al-Ramahi I, Pérez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. Plos Genetics. 3: e234. PMID 18166084 DOI: 10.1371/journal.pgen.0030234  1
2007 Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 56: 422-37. PMID 17988628 DOI: 10.1016/j.neuron.2007.10.001  1
2007 Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 56: 58-65. PMID 17920015 DOI: 10.1016/j.neuron.2007.08.018  1
2007 Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proceedings of the National Academy of Sciences of the United States of America. 104: 15382-7. PMID 17878293 DOI: 10.1073/pnas.0707456104  1
2007 Alvarez-Saavedra M, Sáez MA, Kang D, Zoghbi HY, Young JI. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Human Molecular Genetics. 16: 2315-25. PMID 17635839 DOI: 10.1093/hmg/ddm185  1
2007 Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, Zoghbi HY. Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 132: 2478-88. PMID 17570220 DOI: 10.1053/j.gastro.2007.03.047  1
2007 Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, Opal P. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. Embo Reports. 8: 671-7. PMID 17557114 DOI: 10.1038/sj.embor.7400983  1
2007 Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. Journal of Neurochemistry. 102: 2040-8. PMID 17540008 DOI: 10.1111/j.1471-4159.2007.04678.x  1
2007 Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. Plos Medicine. 4: e182. PMID 17535104 DOI: 10.1371/journal.pmed.0040182  1
2007 Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annual Review of Neuroscience. 30: 575-621. PMID 17417937 DOI: 10.1146/annurev.neuro.29.051605.113042  1
2007 Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nature Genetics. 39: 373-9. PMID 17322884 DOI: 10.1038/ng1977  1
2006 Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 127: 1335-47. PMID 17190598 DOI: 10.1016/j.cell.2006.11.038  1
2006 del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, ... ... Zoghbi HY, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 784-92. PMID 17172942 DOI: 10.1097/01.gim.0000250502.28516.3c  1
2006 Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 127: 697-708. PMID 17110330 DOI: 10.1016/j.cell.2006.09.036  1
2006 McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 103: 18267-72. PMID 17108082 DOI: 10.1073/pnas.0608702103  1
2006 Fryer JD, Zoghbi HY. Huntingtin's critical cleavage. Nature Neuroscience. 9: 1088-9. PMID 16936769 DOI: 10.1038/nn0906-1088  1
2006 Maricich SM, Zoghbi HY. Getting back to basics. Cell. 126: 11-5. PMID 16839867 DOI: 10.1016/j.cell.2006.06.029  1
2006 Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Pérez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. The Journal of Biological Chemistry. 281: 26714-24. PMID 16831871 DOI: 10.1074/jbc.M601603200  1
2006 Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 125: 801-14. PMID 16713569 DOI: 10.1016/j.cell.2006.03.032  1
2006 Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Current Opinion in Genetics & Development. 16: 276-81. PMID 16647848 DOI: 10.1016/j.gde.2006.04.009  1
2006 Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmüller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, Devys D. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. Plos Biology. 4: e67. PMID 16494529 DOI: 10.1371/journal.pbio.0040067  1
2006 Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 319-27. PMID 16399702 DOI: 10.1523/JNEUROSCI.2623-05.2006  1
2005 Zoghbi HY. SILencing misbehaving proteins. Nature Genetics. 37: 1302-3. PMID 16314860 DOI: 10.1038/ng1205-1302  1
2005 Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proceedings of the National Academy of Sciences of the United States of America. 102: 17551-8. PMID 16251272 DOI: 10.1073/pnas.0507856102  1
2005 Shroyer NF, Wallis D, Venken KJ, Bellen HJ, Zoghbi HY. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes & Development. 19: 2412-7. PMID 16230531 DOI: 10.1101/gad.1353905  1
2005 Zoghbi HY. MeCP2 dysfunction in humans and mice. Journal of Child Neurology. 20: 736-40. PMID 16225828  1
2005 Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nature Reviews. Genetics. 6: 743-55. PMID 16205714 DOI: 10.1038/nrg1691  1
2005 Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 48: 31-43. PMID 16202707 DOI: 10.1016/j.neuron.2005.08.024  1
2005 Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, ... ... Zoghbi HY, et al. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 437: 1173-8. PMID 16189514 DOI: 10.1038/nature04209  1
2005 Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 122: 633-44. PMID 16122429 DOI: 10.1016/j.cell.2005.06.012  1
2005 Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA. Identification of a novel phosphorylation site in ataxin-1. Biochimica Et Biophysica Acta. 1744: 11-8. PMID 15878393 DOI: 10.1016/j.bbamcr.2004.10.012  1
2005 Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 64: 1258-60. PMID 15824357 DOI: 10.1212/01.WNL.0000156801.64549.6B  1
2005 Riley BE, Zoghbi HY, Orr HT. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. The Journal of Biological Chemistry. 280: 21942-8. PMID 15824120 DOI: 10.1074/jbc.M501677200  1
2005 Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Human Molecular Genetics. 14: 1095-105. PMID 15757972 DOI: 10.1093/hmg/ddi122  1
2005 Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. Journal of Medical Genetics. 42: e15. PMID 15689438 DOI: 10.1136/jmg.2004.026161  1
2005 Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Human Molecular Genetics. 14: 679-91. PMID 15661755 DOI: 10.1093/hmg/ddi064  1
2005 Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Human Molecular Genetics. 14: 205-20. PMID 15548546 DOI: 10.1093/hmg/ddi016  1
2004 Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, Orr HT. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 8853-61. PMID 15470152 DOI: 10.1523/JNEUROSCI.2978-04.2004  1
2004 Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Human Molecular Genetics. 13: 2679-89. PMID 15351775 DOI: 10.1093/hmg/ddh282  1
2004 Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY, Orr HT. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Human Molecular Genetics. 13: 2535-43. PMID 15317756 DOI: 10.1093/hmg/ddh268  1
2004 Riley BE, Xu Y, Zoghbi HY, Orr HT. The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up. The Journal of Biological Chemistry. 279: 42290-301. PMID 15280365 DOI: 10.1074/jbc.M406284200  1
2004 Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. American Journal of Human Genetics. 74: 1216-24. PMID 15127363 DOI: 10.1086/421526  1
2004 Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 10: 118-28. PMID 15070486 DOI: 10.1177/1073858403260995  1
2004 Opal P, Garcia JJ, McCall AE, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice. Molecular and Cellular Biology. 24: 3140-9. PMID 15060138 DOI: 10.1128/MCB.24.8.3140-3149.2004  1
2004 Young JI, Zoghbi HY. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. American Journal of Human Genetics. 74: 511-20. PMID 14973779 DOI: 10.1086/382228  1
2003 Fritz-Six KL, Cox PR, Fischer RS, Xu B, Gregorio CC, Zoghbi HY, Fowler VM. Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. The Journal of Cell Biology. 163: 1033-44. PMID 14657235 DOI: 10.1083/jcb.200308164  1
2003 Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science (New York, N.Y.). 302: 826-30. PMID 14593168 DOI: 10.1126/science.1089071  1
2003 Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 425: 907-8. PMID 14586449 DOI: 10.1038/425907a  1
2003 Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Human Molecular Genetics. 12: 2789-95. PMID 12952864 DOI: 10.1093/hmg/ddg300  1
2003 Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 61: 156-7. PMID 12874390  1
2003 Opal P, Garcia JJ, Propst F, Matilla A, Orr HT, Zoghbi HY. Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. The Journal of Biological Chemistry. 278: 34691-9. PMID 12807913 DOI: 10.1074/jbc.M302785200  1
2003 Cox PR, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Molecular and Cellular Neurosciences. 23: 1-12. PMID 12799133 DOI: 10.1016/S1044-7431(03)00025-3  1
2003 Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 113: 457-68. PMID 12757707 DOI: 10.1016/S0092-8674(03)00349-0  1
2003 Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 38: 375-87. PMID 12741986 DOI: 10.1016/S0896-6273(03)00258-7  1
2003 Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nature Reviews. Genetics. 4: 296-307. PMID 12671660 DOI: 10.1038/nrg1045  1
2003 Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 37: 383-401. PMID 12575948 DOI: 10.1016/S0896-6273(02)01190-X  1
2003 Wallis D, Hamblen M, Zhou Y, Venken KJ, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, Bellen HJ. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development (Cambridge, England). 130: 221-32. PMID 12441305 DOI: 10.1242/dev.00190  1
2002 Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Human Molecular Genetics. 11: 3237-48. PMID 12444108  1
2002 Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. American Journal of Human Genetics. 71: 1259-72. PMID 12442230 DOI: 10.1086/345360  1
2002 Wang VY, Hassan BA, Bellen HJ, Zoghbi HY. Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts. Current Biology : Cb. 12: 1611-6. PMID 12372255 DOI: 10.1016/S0960-9822(02)01144-2  1
2002 Jensen P, Zoghbi HY, Goldowitz D. Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 8110-6. PMID 12223565  1
2002 Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. American Journal of Medical Genetics. 111: 164-8. PMID 12210344 DOI: 10.1002/ajmg.10557  1
2002 Zoghbi HY, Nelson D. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 20: 467-8. PMID 12175888 DOI: 10.1016/S0736-5748(02)00024-2  1
2002 Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends in Genetics : Tig. 18: 463-71. PMID 12175807 DOI: 10.1016/S0168-9525(02)02729-4  1
2002 Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 35: 243-54. PMID 12160743 DOI: 10.1016/S0896-6273(02)00768-7  1
2002 Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Mental Retardation and Developmental Disabilities Research Reviews. 8: 82-6. PMID 12112732 DOI: 10.1002/mrdd.10025  1
2002 Zoghbi HY. Introduction: Rett syndrome. Mental Retardation and Developmental Disabilities Research Reviews. 8: 59-60. PMID 12112727 DOI: 10.1002/mrdd.10028  1
2002 Watase K, Weeber EJ, Xu B, Antalffy B, Yuva-Paylor L, Hashimoto K, Kano M, Atkinson R, Sun Y, Armstrong DL, Sweatt JD, Orr HT, Paylor R, Zoghbi HY. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 34: 905-19. PMID 12086639 DOI: 10.1016/S0896-6273(02)00733-X  1
2002 Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends in Molecular Medicine. 8: 232-6. PMID 12067633 DOI: 10.1016/S1471-4914(02)02310-9  1
2002 Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochemical and Biophysical Research Communications. 293: 307-13. PMID 12054600 DOI: 10.1016/S0006-291X(02)00211-5  1
2002 Skinner PJ, Vierra-Green CA, Emamian E, Zoghbi HY, Orr HT. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Medicine. 1: 33-42. PMID 12025814 DOI: 10.1385/NMM:1:1:33  1
2002 Chen P, Johnson JE, Zoghbi HY, Segil N. The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development (Cambridge, England). 129: 2495-505. PMID 11973280  1
2002 Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 58: 983-4. PMID 11914424  1
2002 Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Human Molecular Genetics. 11: 115-24. PMID 11809720  1
2002 Gitschier J, Zoghbi HY. Editorial overview: Surprises still in store Current Opinion in Genetics and Development. 12: 263-265. DOI: 10.1016/S0959-437X(02)00296-4  1
2001 Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiology of Disease. 8: 974-81. PMID 11741393 DOI: 10.1006/nbdi.2001.0444  1
2001 Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science (New York, N.Y.). 294: 2155-8. PMID 11739954 DOI: 10.1126/science.1065718  1
2001 Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain & Development. 23: S147-51. PMID 11738862 DOI: 10.1016/S0387-7604(01)00376-X  1
2001 Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 9185-93. PMID 11717352  1
2001 Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Human Molecular Genetics. 10: 2307-11. PMID 11673415  1
2001 Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 12: 796-8. PMID 11668396 DOI: 10.1007/s00335-001-1006-5  1
2001 Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. The American Journal of Pathology. 159: 905-13. PMID 11549583 DOI: 10.1016/S0002-9440(10)61766-X  1
2001 Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, Dillmann WH, Zoghbi HY. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Human Molecular Genetics. 10: 1511-8. PMID 11448943  1
2001 Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nature Reviews. Neuroscience. 2: 484-91. PMID 11433373 DOI: 10.1038/35081558  1
2001 Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1. Neuron. 30: 411-22. PMID 11395003 DOI: 10.1016/S0896-6273(01)00305-1  1
2001 Inoue T, Lin X, Kohlmeier KA, Orr HT, Zoghbi HY, Ross WN. Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. Journal of Neurophysiology. 85: 1750-60. PMID 11287496  1
2001 Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current Opinion in Neurology. 14: 171-6. PMID 11262731 DOI: 10.1097/00019052-200104000-00006  1
2001 Yue S, Serra HG, Zoghbi HY, Orr HT. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Human Molecular Genetics. 10: 25-30. PMID 11136710  1
2001 Cox PR, Siddique T, Zoghbi HY. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-I and Tropomodulin 4 Bmc Genomics. 2. DOI: 10.1186/1471-2164-2-7  1
2000 Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annual Review of Genomics and Human Genetics. 1: 281-328. PMID 11701632 DOI: 10.1146/annurev.genom.1.1.281  1
2000 Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. American Journal of Medical Genetics. 97: 147-52. PMID 11180222 DOI: 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO;2-O  1
2000 Zoghbi HY, Gage FH, Choi DW. Neurobiology of disease. Current Opinion in Neurobiology. 10: 655-60. PMID 11084329 DOI: 10.1016/S0959-4388(00)00135-5  1
2000 Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 408: 101-6. PMID 11081516 DOI: 10.1038/35040584  1
2000 Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. American Journal of Human Genetics. 67: 1428-36. PMID 11055898 DOI: 10.1086/316913  1
2000 Zoghbi HY. Spinocerebellar ataxias. Neurobiology of Disease. 7: 523-7. PMID 11042068 DOI: 10.1006/nbdi.2000.0346  1
2000 Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, ... Zoghbi HY, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genetics. 26: 191-4. PMID 11017075 DOI: 10.1038/79911  1
2000 Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Human Molecular Genetics. 9: 2305-12. PMID 11001934  1
2000 Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annual Review of Physiology. 62: 779-802. PMID 10845111 DOI: 10.1146/annurev.physiol.62.1.779  1
2000 Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annual Review of Neuroscience. 23: 217-47. PMID 10845064 DOI: 10.1146/annurev.neuro.23.1.217  1
2000 Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Current Opinion in Genetics & Development. 10: 275-9. PMID 10826991 DOI: 10.1016/S0959-437X(00)00083-6  1
2000 Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Annals of Neurology. 47: 670-9. PMID 10805343 DOI: 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F  1
2000 Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 101: 1-4. PMID 10778849 DOI: 10.1016/S0092-8674(00)80617-0  1
2000 Hassan BA, Bermingham NA, He Y, Sun Y, Jan YN, Zoghbi HY, Bellen HJ. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain. Neuron. 25: 549-61. PMID 10774724  1
2000 Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Human Molecular Genetics. 9: 909-16. PMID 10767314  1
2000 Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Human Molecular Genetics. 9: 779-85. PMID 10749985  1
2000 Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. American Journal of Human Genetics. 66: 1461-4. PMID 10739772 DOI: 10.1086/302868  1
2000 Prakash SK, Paylor R, Jenna S, Lamarche-Vane N, Armstrong DL, Xu B, Mancini MA, Zoghbi HY. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Human Molecular Genetics. 9: 477-88. PMID 10699171  1
2000 Helms AW, Abney AL, Ben-Arie N, Zoghbi HY, Johnson JE. Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. Development (Cambridge, England). 127: 1185-96. PMID 10683172  1
2000 Ben-Arie N, Hassan BA, Bermingham NA, Malicki DM, Armstrong D, Matzuk M, Bellen HJ, Zoghbi HY. Functional conservation of atonal and Math1 in the CNS and PNS. Development (Cambridge, England). 127: 1039-48. PMID 10662643  1
2000 Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nature Neuroscience. 3: 157-63. PMID 10649571 DOI: 10.1038/72101  1
2000 Amir R, Dahle EJ, Toriolo D, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. American Journal of Medical Genetics. 90: 69-71. PMID 10602120 DOI: 10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.0.CO;2-W  1
1999 Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 24: 879-92. PMID 10624951  1
1999 Lin X, Cummings CJ, Zoghbi HY. Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 24: 499-502. PMID 10595501  0.48
1999 Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American Journal of Human Genetics. 65: 1520-9. PMID 10577905 DOI: 10.1086/302690  1
1999 Zoghbi HY, Orr HT. Polyglutamine diseases: protein cleavage and aggregation. Current Opinion in Neurobiology. 9: 566-70. PMID 10508741 DOI: 10.1016/S0959-4388(99)00013-6  1
1999 Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics. 23: 185-8. PMID 10508514 DOI: 10.1038/13810  1
1999 Cummings CJ, Orr HT, Zoghbi HY. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 354: 1079-81. PMID 10434309 DOI: 10.1098/rstb.1999.0462  1
1999 Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 59: 77-84. PMID 10395802 DOI: 10.1006/geno.1999.5844  0.36
1999 Bermingham NA, Hassan BA, Price SD, Vollrath MA, Ben-Arie N, Eatock RA, Bellen HJ, Lysakowski A, Zoghbi HY. Math1: an essential gene for the generation of inner ear hair cells. Science (New York, N.Y.). 284: 1837-41. PMID 10364557 DOI: 10.1126/science.284.5421.1837  1
1999 Klement IA, Zoghbi HY, Orr HT. Pathogenesis of polyglutamine-induced disease: A model for SCA1. Molecular Genetics and Metabolism. 66: 172-8. PMID 10066385 DOI: 10.1006/mgme.1999.2801  1
1998 Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 51: 1081-6. PMID 9781533  1
1998 Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 95: 41-53. PMID 9778246 DOI: 10.1016/S0092-8674(00)81781-X  1
1998 Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 51: 251-61. PMID 9722948 DOI: 10.1006/geno.1998.5350  0.36
1998 Van den Veyver IB, Subramanian S, Zoghbi HY. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. American Journal of Medical Genetics. 78: 179-81. PMID 9674913 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<179::AID-AJMG17>3.0.CO;2-K  0.36
1998 Cummings CJ, Dahle EJ, Zoghbi HY. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. American Journal of Medical Genetics. 78: 176-8. PMID 9674912 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<176::AID-AJMG16>3.0.CO;2-K  0.48
1998 Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY, Matzuk MM. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 5508-16. PMID 9651231  1
1998 Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nature Genetics. 19: 148-54. PMID 9620770 DOI: 10.1038/502  1
1997 Ben-Arie N, Bellen HJ, Armstrong DL, McCall AE, Gordadze PR, Guo Q, Matzuk MM, Zoghbi HY. Math1 is essential for genesis of cerebellar granule neurons. Nature. 390: 169-72. PMID 9367153 DOI: 10.1038/36579  1
1997 Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 389: 974-8. PMID 9353121 DOI: 10.1038/40159  1
1997 Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 389: 971-4. PMID 9353120 DOI: 10.1038/40153  1
1997 Kaytor MD, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Increased trinucleotide repeat instability with advanced maternal age. Human Molecular Genetics. 6: 2135-9. PMID 9328478 DOI: 10.1093/hmg/6.12.2135  1
1997 Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. American Journal of Human Genetics. 61: 634-41. PMID 9326329  1
1997 Clark HB, Burright EN, Yunis WS, Larson S, Wilcox C, Hartman B, Matilla A, Zoghbi HY, Orr HT. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 7385-95. PMID 9295384  1
1997 Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, Orr HT. Identification of a self-association region within the SCA1 gene product, ataxin-1. Human Molecular Genetics. 6: 513-8. PMID 9097953 DOI: 10.1093/hmg/6.4.513  0.64
1996 Orr HT, Zoghbi HY. Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. Cold Spring Harbor Symposia On Quantitative Biology. 61: 649-57. PMID 9246491  1
1996 Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Human Molecular Genetics. 5: 1311-8. PMID 8872471 DOI: 10.1093/hmg/5.9.1311  1
1996 Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ, Zoghbi HY. Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. Human Molecular Genetics. 5: 1207-16. PMID 8872459 DOI: 10.1093/hmg/5.9.1207  1
1996 Banfi S, Servadio A, Chung M, Capozzoli F, Duvick LA, Elde R, Zoghbi HY, Orr HT. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Human Molecular Genetics. 5: 33-40. PMID 8789437 DOI: 10.1093/hmg/5.1.33  1
1996 Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 34: 166-72. PMID 8661044 DOI: 10.1006/geno.1996.0261  1
1995 Bond JS, Rojas K, Overhauser J, Zoghbi HY, Jiang W. The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively. Genomics. 25: 300-3. PMID 7774936 DOI: 10.1016/0888-7543(95)80142-9  1
1995 Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 10: 344-50. PMID 7670474 DOI: 10.1038/ng0795-344  1
1995 Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genetics. 10: 94-8. PMID 7647801 DOI: 10.1038/ng0595-94  1
1995 Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptácek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genetics. 10: 89-93. PMID 7647799 DOI: 10.1038/ng0595-89  1
1995 Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Seminars in Cell Biology. 6: 29-35. PMID 7620119 DOI: 10.1016/1043-4682(95)90012-8  1
1995 Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Annals of Neurology. 38: 68-72. PMID 7611728 DOI: 10.1002/ana.410380113  0.36
1995 Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 82: 937-48. PMID 7553854 DOI: 10.1016/0092-8674(95)90273-2  1
1994 Percy AK, Glaze DG, Schultz RJ, Zoghbi HY, Williamson D, Frost JD, Jankovic JJ, del Junco D, Skender M, Waring S. Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Annals of Neurology. 35: 464-70. PMID 8154874 DOI: 10.1002/ana.410350415  1
1994 Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genetics. 7: 513-20. PMID 7951322 DOI: 10.1038/ng0894-513  1
1994 Kish SJ, el-Awar M, Stuss D, Nobrega J, Currier R, Aita JF, Schut L, Zoghbi HY, Freedman M. Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity. Neurology. 44: 1738-46. PMID 7936307  1
1993 Zoghbi HY, Frontali M, Orr HT, Sandkuijl L, Cann H, Sasaki H, Chamberlain S, Terrenato L, Rich SS. Linkage studies in dominantly inherited ataxias. Advances in Neurology. 61: 133-7. PMID 8421963  1
1993 Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 4: 221-6. PMID 8358429 DOI: 10.1038/ng0793-221  1
1993 Banfi S, Chung MY, Kwiatkowski TJ, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics. 18: 627-35. PMID 8307572 DOI: 10.1016/S0888-7543(05)80365-9  1
1993 Durkin AS, Maglott DR, Vamvakopoulos NC, Zoghbi HY, Nierman WC. Assignment of an intron-containing human heat-shock protein gene (hsp90 beta, HSPCB) to chromosome 6 near TCTE1 (6p21) and two intronless pseudogenes to chromosomes 4 and 15 by polymerase chain reaction amplification from a panel of hybrid cell lines. Genomics. 18: 452-4. PMID 8288256 DOI: 10.1006/geno.1993.1498  1
1993 Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genetics. 5: 254-8. PMID 8275090 DOI: 10.1038/ng1193-254  1
1992 Banfi S, Ledbetter SA, Chinault AC, Zoghbi HY. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. Nucleic Acids Research. 20: 1814. PMID 1579482  0.32
1992 Meese EU, Witkowski CM, Zoghbi HY, Stanbridge EJ, Meltzer PS, Trent JM. Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6. Genomics. 12: 542-8. PMID 1559705 DOI: 10.1016/0888-7543(92)90446-Y  1
1992 Huang TH, Cottingham RW, Ledbetter DH, Zoghbi HY. Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 13: 375-80. PMID 1351869 DOI: 10.1016/0888-7543(92)90256-R  1
1992 Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 14: 813-5. PMID 1294119  0.84
1991 Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. American Journal of Human Genetics. 49: 23-30. PMID 2063871  0.36
1991 Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM. A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 9: 420-8. PMID 2032717 DOI: 10.1016/0888-7543(91)90407-6  1
1991 Ranum LP, Chung MY, Duvick LA, Zoghbi HY, Orr HT. Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Research. 19: 1171. PMID 2020562 DOI: 10.1093/nar/19.5.1171-a  1
1991 Weber JL, Kwitek AE, May PE, Zoghbi HY. Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Research. 19: 968. PMID 2017389 DOI: 10.1093/nar/19.4.968  1
1991 Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 9: 278-82. PMID 2004777  0.84
1991 Keats BJ, Pollack MS, McCall A, Wilensky MA, Ward LJ, Lu M, Zoghbi HY. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. American Journal of Human Genetics. 49: 972-7. PMID 1928103  1
1991 Kwiatkowski TJ, Beaudet AL, Trask BJ, Zoghbi HY. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 10: 921-6. PMID 1916824  0.84
1991 Huang TH, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, Zoghbi HY, Ledbetter DH. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). American Journal of Human Genetics. 49: 1312-9. PMID 1746558  1
1991 Zoghbi HY, McCall AE, LeBorgne-Demarquoy F. Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR. Genomics. 9: 713-20. PMID 1674731  0.36
1990 Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. American Journal of Medical Genetics. 35: 148-51. PMID 2301468 DOI: 10.1002/ajmg.1320350131  0.36
1990 Kwiatkowski TJ, Zoghbi HY, Ledbetter SA, Ellison KA, Chinault AC. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Research. 18: 7191-2. PMID 2263507  0.32
1990 Zoghbi HY, McCall AE. TaqI polymorphism at the D6S91 locus. Nucleic Acids Research. 18: 5923. PMID 1977146  0.36
1990 Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ, Ledbetter SA, Beaudet AL. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics. 6: 352-7. PMID 1968423  0.84
1990 Zoghbi HY, McCall AE. BclI and MspI polymorphisms at the D6S90 locus. Nucleic Acids Research. 18: 5922. PMID 1699208  0.36
1989 Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, Percy AK. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Annals of Neurology. 25: 56-60. PMID 2913929 DOI: 10.1002/ana.410250109  0.36
1989 Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. American Journal of Human Genetics. 44: 255-63. PMID 2563195  0.84
1988 Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Annals of Neurology. 23: 580-4. PMID 3165612 DOI: 10.1002/ana.410230609  1
1988 Zoghbi HY, O'Brien WE, Ledley FD. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics. 3: 396-8. PMID 2907507  0.48
1988 Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL. Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. American Journal of Human Genetics. 42: 877-83. PMID 2897163  0.84
1988 Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. American Journal of Human Genetics. 42: 839-46. PMID 2897160  0.32
1988 Ballantyne CM, Zoghbi HY, Grzeschik KH, O'Brien WE, Beaudet AL. A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. Nucleic Acids Research. 16: 1650. PMID 2894640  0.84
1987 Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Archives of Neurology. 44: 1053-6. PMID 3632378  0.36
1987 Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Annals of Neurology. 21: 377-82. PMID 3579223 DOI: 10.1002/ana.410210410  0.36
1987 Percy AK, Zoghbi HY, Glaze DG. Rett syndrome: discrimination of typical and variant forms. Brain & Development. 9: 458-61. PMID 3434720  0.36
1986 Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Annals of Neurology. 20: 367-9. PMID 3767322 DOI: 10.1002/ana.410200318  0.84
1985 Zoghbi HY, Okumura S, Laurent JP, Fishman MA. Acute effect of glycerol on net cerebrospinal fluid production in dogs. Journal of Neurosurgery. 63: 759-62. PMID 4056879 DOI: 10.3171/jns.1985.63.5.0759  1
1985 Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. The New England Journal of Medicine. 313: 921-4. PMID 2412119 DOI: 10.1056/NEJM198510103131504  0.36
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