2017

 Zoghbi HY. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Dis Model Mech. 2017 May 1;10(5):503-507. doi: 10.1242/dmm.029751. PMID: 28468936

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. 2017 Apr 19;94(2):294-303.e4. doi: 10.1016/j.neuron.2017.03.024. Epub 2017 Apr 6. PMID: 28392070

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, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. PMID: 28288114

Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J. An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways. Mol Cell Proteomics. 2017 Apr;16(4):581-593. doi: 10.1074/mcp.M116.061440. Epub 2017

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. Hum Mol Genet. 2016 Dec 1;25(23):5083-5093. doi: 10.1093/hmg/ddw337. PMID:28007900

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. 2016 Dec 14;11(12):e0166703. doi: 10.1371/journal.pone.0166703. eCollection 2016. PMID: 27973548

Katsnelson A, De Strooper B, Zoghbi HYNeurodegeneration: From cellular concepts to clinical applications. Sci Transl Med. 2016 Nov 9;8(364):364ps18. Review. PMID: 27831899

Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 Oct 26;19(11):1408-1417. doi: 10.1038/nn.4420. Review. PMID: 27786181

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. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 2016 Oct 25;5. pii: e19809. doi: 10.7554/eLife.19809. PMID: 27779468

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, Botas J, Zoghbi HY. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. 2016 Oct 1. pii: S0896-6273(16)30581-5. doi:10.1016/j.neuron.2016.09.022. PMID: 27720485

Zoghbi HY. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 6;167(2):293-297. doi: 10.1016/j.cell.2016.09.039. PMID: 27716498

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, Smirnakis SM, Zoghbi HY. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17;91(4):739-47. doi: 10.1016/j.neuron.2016.07.018. PMID: 27499081

Meng X, Wang W, Lu H, He LJ, Chen W, Chao ES, 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. 2016 Jun 21;5. pii: e14199. doi: 10.7554/eLife.14199. PMID: 27328325 

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. 2016 Jun 21;5. pii: e14198. doi: 10.7554/eLife.14198. PMID: 27328321

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. 2016 Mar 16;89(6):1194-207. doi: 10.1016/j.neuron.2016.02.011. Epub 2016 Mar 3. PMID: 26948890

Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harb Perspect Biol. 2016 Feb 1;8(2):a019497. doi: 10.1101/cshperspect.a019497. Review. PMID: 26834142

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, Hassan BA. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 2016 Jan 28;164(3):460-75. doi: 10.1016/j.cell.2015.12.048. PMID: 26824657

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. 2015 Dec 17;4. pii: e10891. doi: 10.7554/eLife.10891. PMID: 26673892

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. 2015 Dec 3;528(7580):123-6. doi: 10.1038/nature16159. PMID: 26605526

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. 2015 Nov 18;88(4):651-8. doi: 10.1016/j.neuron.2015.10.029. PMID: 26590342

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. 2015 Oct 15;526(7573):430-4. doi: 10.1038/nature15694. PMID: 26469053

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, Neilson JR, Schaaf CP, Zoghbi HY. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27;4. doi: 10.7554/eLife.10782. PMID: 26312503

Baker SA, Lombardi LM, Zoghbi HY. Karyopherin alpha 3 and Karyopherin alpha 4 Mediate Nuclear Import of Methyl-CpG Binding Protein 2. J Biol Chem. 2015 Aug 5. pii: jbc.M115.658104. PMID: 26245896

Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167. Epub 2015 Aug PMID: 26237041

Pohodich AE, Zoghbi HY. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet. 2015 Jun 9. pii: ddv217.  PMID: 26060191

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. 2015 May 19;4. doi: 10.7554/eLife.07558. PMID: 25988806

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. Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5509-14. doi: 10.1073/pnas.1505909112. PMID: 25870282

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. J Neurosci. 2015 Apr 8;35(14):5870-83. doi: 10.1523/JNEUROSCI.5083-14.2015. PMID: 25855195

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. Hum Mol Genet. 2015 Apr 1;24(7):1813-23. PMID: 25432536

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. 2015 Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012. PMID: 25768905

Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. Rousseaux MW, Zoghbi HY. JAMA Neurol. 2015 Mar;72(3):259-60. doi: 10.1001/jamaneurol.2014.4109. PMID: 25560048

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. Sci Rep. 2015 Feb 5;5:8272. doi: 10.1038/srep08272. PMID: 25653040

2014

Zoghbi HY. From anatomy to electrophysiology: clinical Lasker goes deep. Cell. 2014 Sep 11;158(6):1225-9. doi: 10.1016/j.cell.2014.08.021. PMID: 25215480

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. 2014 Jun 26;3. doi: 10.7554/eLife.02676. PMID: 24970834

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. 2014 May 14;3:e02265. doi: 10.7554/eLife.02265. PMID: 24842997

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, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. PMID: 24651605

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; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23. PMID: 24462372

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z. PMID: 23921973

2013

Han K, Holder Jr 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. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Oct 23. doi: 10.1038/nature12630. PMID: 24153177

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. 2013 Aug 2;8(8):e70610. doi: 10.1371/journal.pone.0070610. Print 2013. PMID: 23936457

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief Report: MECP2 Mutations in People Without Rett Syndrome. J Autism Dev Disord. 2013 Aug 7. PMID: 23921973

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. J Neurosci. 2013 May 29;33(22):9328-36. doi: 10.1523/JNEUROSCI.3465-12.2013. PMID: 23719801

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, Gao Y, Shaw CA, Arthur JS, Orr HT, Westbrook TF, Botas J, Zoghbi HYRAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.Nature. 2013 Jun 20;498(7454):325-31. doi: 10.1038/nature12204. Epub 2013 May 29. PMID: 23719381

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 Genet. 2013 Mar;9(3):e1003359. doi: 10.1371/journal.pgen.1003359. Epub 2013 Mar 28. PMID: 23555280
 
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. J Neurosci. 2013 Mar 27;33 (13):5806-20. doi: 10.1523/JNEUROSCI.6311-11.2013. PMID: 23536093

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 Dev. 2013 Mar 15;27(6):590-5. doi: 10.1101/gad.212068.112. PMID: 23512657

Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HYAn AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders. Cell. 2013 Feb 28;152(5):984-96. doi: 10.1016/j.cell.2013.01.038. PMID: 23452848

Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HYHuman-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev. 2013 Feb 21

Zoghbi HYThe basics of translation. Science. 2013 Jan 18;339(6117):250. doi: 10.1126/science.1234799. No abstract available. PMID: 23329019

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. Sci Transl Med. 2012 Dec 5;4(163):163ra158. doi: 10.1126/scitranslmed.3004430. PMID: 23220634 [PubMed - in process]
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Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HYFemale Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013 Jan 1;22(1):96-109. doi: 10.1093/hmg/dds406. Epub 2012 Oct 1. PMID: 23026749 [PubMed - in process] Free Article 
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Hughes V, Sheng M, Zoghbi HChildhood disorders of the synapse: challenges and opportunities. Sci Transl Med. 2012 Sep 19;4(152):152ps17. PMID: 22993293 [PubMed - in process] 
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Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HYAtoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 6;75(5):799-809. doi: 10.1016/j.neuron.2012.06.027. PMID: 22958821 [PubMed - indexed for MEDLINE]
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Chao HT, Zoghbi HYMeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26;15(2):176-7. doi: 10.1038/nn.3027. No abstract available. PMID: 22281712 [PubMed - indexed for MEDLINE]
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Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar 1;4(3). doi:pii: a009886. 10.1101/cshperspect.a009886. Review. PMID: 22258914 [PubMed - indexed for MEDLINE]
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Zoghbi HY, Bear MF. Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities. Cold Spring Harb Perspect Biol 2012 Jan 18. pii: cshperspect.a009886v1. doi: 10.1101/cshperspect.a009886. [Epub ahead of print] PubMed PMID: 22258914

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. 2011 Nov 4;334(6056):606-7. PMID: 22053053. Reprint available at Science.

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. 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. Dev Cell. 2011 Oct 18;21(4):746-57. PMID: 22014525.

Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disordersSci Transl Med. 2011 Jun 8; 3(86): 86ra49. PubMed PMID: 21653829. Reprint available at Science Translational Medicine.

McGraw CM, Samaco RC, Zoghbi HY. Adult Neural Function Requires MeCP2. Science. 2011 Jun 2. [Epub ahead of print] PubMed PMID: 21636743. Reprint available at Science.

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 disorderHum Mol Genet. 2011 May 30. [Epub ahead of print] PubMed PMID: 21624971

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.
Hum Mol Genet. 2011 Jun 1;20(11):2204-12. Epub 2011 Mar 22. PubMed PMID: 21427130 

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. J Child Neurol. 2011 Mar;26(3):288-94. PubMed PMID: 21383226 

Klisch TJ, Xi Y, Flora A, Wang L, Li W, Zoghbi HY. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar developmentProc Natl Acad Sci U S A. 2011 Feb 22;108(8):3288-93. Epub 2011 Feb 7. PubMed PMID: 21300888 

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. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2142-7. Epub 2011 Jan 18. PubMed PMID: 21245341

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.Hum Mol Genet. 2011 Feb 1;20(3):510-27. Epub 2010 Nov 15. PubMed PMID: 21078624.

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.  2010 Nov 11;468(7321):263-9. PubMed PMID: 21068835 

Zoghbi HY, Warren ST. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 2010 Oct 21;68(2):165-73. PubMed PMID: 20955921 

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. 2010 Sep 23;67(6):929-35. PubMed PMID: 20869591

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 Genet. 2010 Jul 8;6(7):e1001021. PubMed PMID: 20628574; PubMed Central PMCID: PMC2900305.

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 Genet. 2010 Jun 10;6(6):e1000984. PubMed PMID: 20548952; PubMed Central PMCID: PMC2883596.

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. 2010 Mar 26;327(5973):1580-1. PubMed PMID: 20339051.