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, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. Epub 2009 Mar 26. PMID: 19324899

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Y Zoghbi H. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Apr 15. [Epub ahead of print] PMID: 19369296

Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4577-8. Epub 2009 Mar 17. No abstract available. PMID: 19293386

Zoghbi HY. Rett syndrome: what do we know for sure? Nat Neurosci. 2009 Mar;12(3):239-40. No abstract available. PMID: 19238181

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. Dev Biol. 2009 Mar 15;327(2):339-51. Epub 2008 Dec 25. PMID: 19135992

Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284(12):7425-9. Epub 2008 Oct 28. Review. PMID: 18957430

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Carlson KM, Melcher L, Lai S, Zoghbi HY, Brent Clark H, Orr HT. Characterization of the Zebrafish atxn1/axh Gene Family. J Neurogenet. 2008 Dec 10:1-11. [Epub ahead of print] PMID: 19085187

Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284(12):7425-9. Epub 2008 Oct 28. PMID: 18957430

Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 2008 Oct 16;455(7215):912-8. Review. PMID: 18923513

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. 2008 Sep 25;59(6):947-58. PMID: 18817733

Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. PLoS Genet. 2008 Sep 5;4(9):e1000179. PMID: 18773074

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. Nat Neurosci. 2008 Oct;11(10):1137-9. Epub 2008 Aug 31. PMID: 18758459

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. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92. Epub 2008 Aug 7. PMID: 18687887

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. 2008 May 30;320(5880):1224-9. PMID: 18511691

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. 2008 Apr 10; 452(7188):713-8. Epub 2008 Mar 12. PMID: 18337722

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. Hum Mol Genet. 2008 Jun 15;17(12):1718-27. Epub 2008 Mar 4. PMID: 18321864

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. Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1291-6. Epub 2008 Jan 23. PMID: 18216249

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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 Genet. 2007 Dec 28;3(12):e234. Epub 2007 Nov 16. PMID: 18166084

Chahrour M, Zoghbi HY.The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 8;56(3):422-37. Review. PMID: 17988628

Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 4;56(1):58-65. PMID: 17920015

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. Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15382-7. Epub 2007 Sep 18. PMID: 17878293

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. Hum Mol Genet. 2007 Oct 1;16(19):2315-25. Epub 2007 Jul 17. PMID: 17635839

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. 2007 Jun;132(7):2478-88. Epub 2007 Mar 24. PMID: 17570220

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 Rep. 2007 Jul;8(7):671-7. Epub 2007 Jun 8. PMID: 17557114

Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem. 2007 Sep;102(6):2040-8. Epub 2007 Jun 1. PMID: 17540008

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 Med. 2007 May;4(5):e182. PMID: 17535104

Orr, H.T. and Zoghbi, H.Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci, 2007. 30: p. 575-621.
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. Nat Genet. 2007 Mar;39(3):373-9. Epub 2007 Feb 18. PMID: 17322884

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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. 2006 Dec 29;127(7):1335-47.

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, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec;8(12):784-92.

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. 2006 Nov 17;127(4):697-708.

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. Proc Natl Acad Sci U S A. 2006 Nov 28;103(48):18267-72.

Fryer JD, Zoghbi HY. Huntingtin's critical cleavage. Nat Neurosci. 2006 Sep;9(9):1088-9.

Maricich SM, Zoghbi HY. Getting back to basics. Cell. 2006 Jul 14;126(1):11-5.

Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Perez 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. J Biol Chem. 2006 Sep 8;281(36):26714-24.

Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabasi AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19;125(4):801-14.

Zoghbi HY and Beaudet AL. 2006. Epigenetics and Human Disease. Reinberg D, Allis CD, Jenuwein T, eds. (New York: CSH Press).

Beaudet AL and Zoghbi HY. 2006. A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism. In Understanding Autism: From Basic Neuroscience to Treatment. Mouldin SO and Rubenstein JLR, eds. (CRC Press: Boca Raton, FL).

Zoghbi, HY. 2006. Genetic Mechanisms in Degenerative Diseases of the Nervous System. In: Principles of Neural Science, 5th edition.  Kandel ER, Schwartz JH, Jessell TM, Siegelbaum S, and Hudspeth J, eds. (New York: McGraw-Hill).

Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun;16(3):276-81.

Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmuller 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 Biol. 2006 Mar;4(3):e67.

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. J Neurosci. 2006 Jan 4;26(1):319-27.

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Zoghbi HY. SILencing misbehaving proteins. Nat Genet. 2005 Dec;37(12):1302-3.

Young JI, Hong EP, Castle J, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson J, Berget S, Zoghbi H. Regulation of RNA splicing by the methylation-dependent transcriptional repressor MeCP2. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17551-8.

Shroyer NF, Schultz DW, Venken KJT, Bellen HJ, Zoghbi HY. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev. 2005 Oct 15;19(20):2412-7.

Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep;20(9):736-40.

Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005 Oct;6(10):743-55.

Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 2005 Oct 6;48(1):31-43.

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, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 2005 Oct 20;437(7062):1173-8.

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. 2005 Aug 26;122(4):633-44.

Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA. Identification of a novel phosphorylation site in ataxin-1. Biochim Biophys Acta. 2005 May 15;1744(1):11-8.

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, Raskind WH, Bird TD. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12;64(7):1258-60.

Riley BE, Zoghbi HY, Orr HT. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem. 2005 Jun 10;280(23):21942-8.

Ross MT et al. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37.

Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Hum Mol Genet. 2005 Apr 15;14(8):1095-105.

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. J Med Genet. 2005 Feb;42(2):e15.

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. Hum Mol Genet. 2005 Mar 1;14(5):679-91.

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. Hum Mol Genet. 2005 Jan 15;14(2):205-20.

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Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, Orr HT. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci. 2004 Oct 6;24(40):8853-61.

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, Sweatt JD, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 1;13(21):2679-89.

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. Hum Mol Genet. 2004 Oct 15;13(20):2535-43.

Riley BE, Xu Y, Zoghbi HY, Orr HT. The Effects of the Polyglutamine Repeat Protein Ataxin-1 on the UbL-UBA Protein A1Up. J Biol Chem. 2004 Oct 1;279(40):42290-301.

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. Am J Hum Genet. 2004 Jun;74(6):1216-24.

Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr;10(2):118-28.

Opal P, Garcia JJ, McCall E, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice.  Mol Cell Biol. 2004 Apr;24(8):3140-9.

Young J, Zoghbi HY. X-Chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome.  Am J Hum Genet. 2004 Mar;74(3):511-20.

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Fritz-Six KL, Cox PR, Fischer RS, Xu B, Gregorio CC, Zoghbi HY, Fowler VM. Aberrant myofibril assembly in tropomodulin 1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol. 2003 Dec 8;163(5):1033-44.

Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31;302(5646):826-30.

Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30;425(6961):907-8.

Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by Notch in Xenopus embryos. Mol Cell. 2003 Aug;12(2):425-35.

Watase K, Venken KJT, 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. Hum Mol Genet. 2003 Nov 1;12(21):2789-95.

Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 2003 Jul 22;61(2):156-7.

Opal P, Garcia J, 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.  J Biol Chem. 2003 Sep 5;278(36):34691-9.

Cox P, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. Mice lacking tropomodulin-2 (Tmod2) show enhanced long-term potentiation, hyperactivity and deficits in learning and memory. Mol Cell Neurosci. 2003 May;23(1):1-12.

Chen H-K, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EMC, Orr HT, Botas J, Zoghbi HY. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003 May 16;113(4):457-68.

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. 2003 May 8;38(3):375-87.

Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr;4(4):296-307.

Yoo S-Y, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Wu SM, Sweatt JD, Zoghbi HY.   SCA7 knockin mice model human SCA7 and reveal gradual accumulation of ataxin-7 neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 6;37(3):383-401.

Wallis D, Hamblen M, Zhou Y, Venken KJT, 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. 2003 Jan;130(1):221-32.

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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. Hum Mol Genet. 2002 Dec 1;11(25):3237-48.

Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec;71(6):1259-72.

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.  Curr Biol. 2002 Sep 17;12(18):1611-6.

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.   J. Neuroscience. 2002 Sep 15;22(18):8110-6.

Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 1;111(2):164-8.

Zoghbi HY, Nelson D. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):467-8.

Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep;18(9):463-71.

Shahbazian MD, Young  JI, Yuva-Paylor LA, Antalffy BA, Spencer CM, Noebels JL, Armstrong DL, Paylor R, Zoghbi HY. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.  Neuron. 2002 Jul 18;35(2):243-54.

Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):82-6.

Zoghbi HY. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):59-60.

Lin X, Jung J, Kang D, Xu B, Zaret KS, Zoghbi HY. Prenylcysteine carboxylmethyltransferase (PCCMT) is essential for the earliest stages of liver development in mice.  Gastroenterology. 2002 Jul;123(1):345-51.

Watase K, Weeber EJ, Xu B, Antalffy B, Nellis A, Yuva-Paylor L, Armstrong D, Sweatt JD, Orr HT, Paylor RL Zoghbi HY. A long CAG repeat in the mouse Sca1 locus replicates human SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13;34(6):905-19.

Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends Mol Med. 2002 May;8(5):232-6.

Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochem Biophys Res Commun. 2002 Apr 26;293(1):307-13.

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 Med. 2002;1(1):33-42.

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. 2002 May;129(10):2495-505.

Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reye C, Yuva-Paylor L, Armstrong D, Zoghbi HY, Sweatt, JD, Paylor R, Nelson, DL. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knockout mice.  J. Neuroscience. 2002 Apr 1;22(7):2753-63.

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. 2002 Mar 26;58(6):983-4.

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. Hum Mol Genet. 2002 Jan 15;11(2):115-24.

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Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001 Dec;8(6):974-81.

Yang Q, Bermingham N, Finegold M, Zoghbi H.  Requirement of Math1 for secretory cell lineage commitment in the mouse  intestine. Science. 2001 Dec 7;294(5549):2155-8.

Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec;23 Suppl 1:S147-51.

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. J Neurosci. 2001 Dec 1;21(23):9185-93.

Cox PR, Siddique T, Zoghbi HY. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. BMC Genomics. 2001;2(1):7. Epub 2001 Oct 17.

Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum Mol Genet. 2001 Oct 1;10(20):2307-11.

Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB.  Analysis of Mid1, Hccs, Arhgap6, and Ms1311 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome, 2001 Oct;12(10):796-8.

Skinner PJ, Vierra-Green CA, Brent Clark H, Zoghbi HY, Orr HT.  Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice. Am J Pathol. 2001 Sep;159(3):905-13.

Cummings C J, 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. Hum Mol Genet. 2001 Jul 1;10(14):1511-8.

Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci. 2001 Jul;2(7):484-91.

Bermingham NA, Hassan B, Fernandez M, Banfi S, Bellen H, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1.  Neuron. 2001 May;30(2):411-22.

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.  J Neurophysiol. 2001 Apr;85(4):1750-60.

Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr;14(2):171-6.

Shi O, Morris SM Jr, Zoghbi H, Porter CW, O'Brien WE. Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol. 2001 Feb;21(3):811-3.

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.  Hum Mol Genet. 2001 Jan 1;10(1):25-30.

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Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000;1:281-328.

Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet., 2000 Summer;97(2):147-52.

Zoghbi HY, Gage FH, Choi DW. Neurobiology of disease. Curr Opin Neurobiol. 2000 Oct;10(5):655-60.

Fernandez-Funez P, Rosales MLN, de Gouyon B, She W-C, Luchack J, 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. 2000 Nov 2;408(6808):101-6.

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. Am J Hum Genet. 2000 Dec;67(6):1428-36.

Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000 Oct;7(5):523-7.

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, Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.  Nature Genet. 2000 Oct;26(2):191-4.

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.  Hum Mol Genet. 2000 Sep 22;9(15):2305-12.

Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annu Rev Physiol. 2000;62:779-802.

Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annu Rev Neurosci. 2000;23:217-47.

Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun;10(3):275-9.

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.  Ann Neurol. 2000 May;47(5):670-9.

Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 2000 Mar 31;101(1):1-4.

Hassan BA, Bermingham NA, He Y, Sun Y, Jan Y-N, Zoghbi HY, Bellen HJ. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain.  Neuron. 2000 Mar;25(3):549-61.

Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet. 2000 Apr 12;9(6):909-16.

Lorenzetti D, Watase K, Xu B, Antalffy B, Matzuk M, Guo Q, Wang P, Orr H, Zoghbi H. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22;9(5):779-85.

Zhang W, Amir R, Stockton D, Van den Veyver I, Bacino C, Zoghbi H. Terminal osseous dysplasia and pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr;66(4):1461-4.

Prakash S, Paylor R, Jenna S, Lamarche-Vane N, Armstrong D, Xu B, Mancini M, Zoghbi HY. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 1;9(4):477-88.

Helms AW, Abney AL, Ben-Arie N, Zoghbi HY, Johnson JE. Autoregulation and multiple enhancers control Math1 expression in the developing nervous system.  Development.  2000 Mar;127(6):1185-96.

Cox P, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulins genes and their mouse orthologs.  Genomics. 2000 Jan 1;63(1):97-107.

Ben-Arie N, Hassan BA, Bermingham NA, Armstrong D, Matzuk MM, Bellen HJ, Zoghbi HY. Functional conservation of atonal and Math 1 in the CNS and PNS. Development. 2000 Mar;127(5):1039-48.

Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.  Nature Neurosci. 2000 Feb;3(2):157-63.

Amir R, Roth-Dahle EJ, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.  Am J Med Genet. 2000 Jan 3;90(1):69-71.

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Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y-H, 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 transgenic mice. Neuron. 1999 Dec;24(4):879-92.

Lin X, Cummings CJ, Zoghbi HY. Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 1999 Nov;24(3):499-502.

Wan M, Lee SS, Zhang X, Houwink-Manville I, Song H-R, Amir RE, Budden S, Naidu S, Pereira JLL, Lo IFM, Zoghbi HY, Schanen NC, Francke U. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.  Am J Hum Genet. 1999 Dec;65(6):1520-9.

Zoghbi HY, Orr HT. Polyglutamine diseases: protein cleavage and aggregation. Curr Opin Neurobiol. 1999 Oct;9(5):566-70.

Amir R, Van den Veyver IB, Wan M, Tran C, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.  Nat Genet. 1999 Oct;23(2):185-8.

Cummings CJ, Orr HT, Zoghbi HY. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1079-81.

Prakash SD, Van den Veyver IG, Franco B, Volta M, Ballabio A, Zoghbi H.Y. Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-3.  Genomics. 1999 Jul 1;59(1):77-84.

Bermingham N, 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. 1999 Jun 11;284(5421):1837-41.

Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.  Ann Neurol.  1999 Mar;45(3):407-11.

Klement IA, Zoghbi HY, Orr HT. Pathogenesis of polyglutamine-induced disease: A model for SCA1. Mol Genet Metab. 1999 Mar;66(3):172-8.

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Benton, C.S., de Silva, R., Rutledge, S.L., Bohlega, S., Ashizawa, T., and Zoghbi, H.Y. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.  Neurology. 1998 Oct;51(4):1081-6.

Klement, I. A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y., and Orr, H.T.  Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic Mice.  Cell. 1998 Oct 2;95(1):41-53.

Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Dürr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., and Tsuji, S. Close associations between prevalence of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.  Am J Hum Genet. 1998 Oct;63(4):1060-6.

Van den Veyver, I. B., T. A. Cormier, V. Jurecic, A. Baldini, and H. Y. Zoghbi. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.  Genomics. 1998 Jul 15;51(2):251-61.

Van den Veyver, I. B., S. Subramanian, and H. Y. Zoghbi. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.  Am J Med Genet. 1998 Jun 30;78(2):179-81.

Cummings, C. J., E. J. R. Dahle, and H. Y. Zoghbi. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.  Am J Med Genet. 1998 Jun 30;78(2):176-8.

Narayanan, V., S. Olinsky, E. Dahle, S. Naidu, and H. Y. Zoghbi. Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30;78(2):165-8.

Matilla, A., E. D. Roberson, S. Banfi, J. Morales, D. L. Armstrong, E. N. Burright, H. T. Orr, J. D. Sweatt, H. Y. Zoghbi, and M. M. Matzuk. Mice lacking ataxin-1 do not have ataxia but display neurobehavioral abnormalities and decreased hippocampal PPF. J Neurosci. 1998 Jul 15;18(14):5508-16.

Cummings, C. J., M. A. Mancini, B. Antalffy, D. B. DeFranco, H.T. Orr, H. Zoghbi. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet. 1998 Jun;19(2):148-54.

Pearson, C. E., E. E. Eichler, D. Lorenzetti, S. F. Kramer, H. Y. Zoghbi, D. L. Nelson, and R. R. Sinden.  Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation.  Biochemistry. 1998 Feb 24;37(8):2701-8.

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Schaefer, L., S. Prakash, and H. Y. Zoghbi. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.  Genomics. 1997 Dec 1;46(2):268-77.

Zoghbi HY. CAG repeats in SCA6. Anticipating new clues. Neurology. 1997 Nov;49(5):1196-9.

Ben-Arie N., H. J. Bellen, D. L. Armstrong, A. E. McCall, P. R. Gordadze, Q. Guo, M. M. Matzuk, and H. Y. Zoghbi.  Math1 is essential for genesis of cerebellar granule neurons. Nature. 1997 Nov 13;390(6656):169-72.

Matilla, T., B. Koshy, C. J. Cummings, T. Isobe, H. T. Orr and H. Y. Zoghbi.  The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1.  Nature. 1997 Oct 30;389(6654):974-8.

Skinner, P., B. Koshy, C. J. Cummings, I. A. Klement, K. Helin, A. Servadio, H. Y. Zoghbi, and H. T. Orr. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures.  Nature. 1997 Oct 30;389(6654):971-4.

Kaytor, M. D., E. N. Burright, L. A. Duvick, H. Y. Zoghbi and H. T. Orr.  Increased trinucleotide repeat instability with advanced maternal age.  Hum Mol Genet. 1997 Nov;6(12):2135-9.

Lorenzetti, D., S. Bohlega, and H. Y. Zoghbi. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.  Neurology. 1997 Oct;49(4):1009-13.

Schanen, N. C., E. J. R. Dahle, F. Capozzoli, V. A. Holm, H. Y. Zoghbi, and U. Francke. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.  Am J Hum Genet. 1997 Sep;61(3):634-41.

Clark, H. B., E. N. Burright, W. S. Yunis, S. Larson, C. Wilcox, B. Hartman, A. Matilla, H. Y. Zoghbi, and H. T. Orr. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behavior, followed by a progressive cerebellar dysfunction and histological alterations.  J Neurosci.1997 Oct 1;17(19):7385-95.

Heintz N, Zoghbi H. alpha-Synuclein--a link between Parkinson and Alzheimer diseases? Nat Genet. 1997 Aug;16(4):325-7.

Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 1997 Jul;7(3):927-42.

Zoghbi HY. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May;41(5):722-6.

Burright, E. N., J. D. Davidson, L. A. Duvick, B. Koshy, H. Y. Zoghbi, and H. T. Orr. Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet. 1997 Apr;6(4):513-8.

Zhuchenko, O., J. Bailey, P. Bonnen, T. Ashizawa, D. W. Stockton, C. Amos, W. B. Dobyns, S. H. Subramony, H. Y. Zoghbi, and C. C. Lee. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansion in the alpha1A-voltage-dependent calcium channel.  Nat Genet. 1997 Jan;15(1):62-9.

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Zoghbi HY. The expanding world of ataxins. Nat Genet. 1996 Nov;14(3):237-8.

Koshy, B., T. Matilla, E. N. Burright, D. E. Merry, K. H. Fischbeck, H. T. Orr, and H. Y. Zoghbi.  Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet. 1996 Sep;5(9):1311-8.

Ben-Arie, N., A. McCall, S. Berkman, G. Eichele, H. J. Bellen, and H. Y. Zoghbi. Evolutionary conservation of sequence and expression of the bHLH protein atonal suggests a conserved role in neurogenesis.  Hum Mol Genet. 1996 Sep;5(9):1207-16.

Schaefer, L., A. Ballabio, and H. Y. Zoghbi. 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.1996 Jun 1;34(2):166-72.

Orr HT, Zoghbi HY. Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. Cold Spring Harb Symp Quant Biol. 1996;61:649-57.

Banfi, S., A. Servadio, M-Y. Chung, F. Capozzoli, L. A. Duvick, R. Elde, H. Y. Zoghbi, and H. T. Orr. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).Hum Mol Genet. 1996 Jan;5(1):33-40.

Banfi S, Zoghbi HY. Detection of chimerism in YAC clones. Methods Mol Biol. 1996;54:115-21.

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O'Donnell DM, Zoghbi HY. Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr. 1995 Dec;7(6):715-25.

Servadio, A., A. McCall, H. Y. Zoghbi, and E. M. Eicher. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes.  Genomics. 1995 Oct 10;29(3):812-3.

Burright, E. N., H. B. Clark, A. Servadio, T. Matilla, R. M. Feddersen, W. S. Yunis, L. A. Duvick, H. Y. Zoghbi, and H. T. Orr. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.  Cell. 1995 Sep 22;82(6):937-48.

Zoghbi HY. Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. Proc Assoc Am Physicians. 1995 Jul;107(2):231-6.

Chong, S. S., A. E. McCall, J. Cota, S. H. Subramony, H. T. Orr, M. R. Hughes, and H. Y. Zoghbi. Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.  Nat Genet. 1995 Jul;10(3):344-50.

Matilla, T., A. McCall, S. H. Subramony, and H. Y. Zoghbi. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.  Ann Neurol. 1995 Jul;38(1):68-72.

Servadio, A., B. Koshy, D. Armstrong, B. Antalffy, H. T. Orr, and H. Y. Zoghbi. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.  Nat Genet. 1995 May;10(1):94-8.

Gouw, L. G., C. D. Kaplan, J. H. Haines, K. B. Digre, L. S. Rutledge, A. Matilla, M. Leppert, H. Y. Zoghbi, and L. J. Ptacek.  Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.  Nat Genet. 1995 May;10(1):89-93.

Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Semin Cell Biol. 1995 Feb;6(1):29-35.

Bond, J. S., K. Rojas, J. Overhauser, H. Y. Zoghbi, and W. Jiang. The structural genes, MEP1A and MEP1B, for the a and ß subunits of the metalloendopeptidase meprin map to human chromosome 6p and 18q, respectively.  Genomics. 1995 Jan 1;25(1):300-3.

Zoghbi HY. Spinocerebellar ataxia type 1. Clin Neurosci. 1995;3(1):5-11.

Ferrero, G. B., B. Franco, E. J. Roth, B. A. Firullli, G. Borsani, J. Delmas-Mata, J. Weissenbach, G. Halley, D. Schlessinger, A. C. Chinault, H. Y. Zoghbi, D. L. Nelson, and A. Ballabio.  1995.  An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.  Hum Mol Genet. 4:1821-1827.

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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. 1994 Sep;44(9):1738-46.

Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol. 1994 Aug;3(2):281-95.

Banfi, S., A. Servadio, M-Y. Chung , T. J. Kwiatkowski Jr., A. E. McCall, L. A. Duvick, Y. Shen, E. J. Roth, H. T. Orr, and H. Y. Zoghbi. Identification and characterization of the gene causing type 1 spinocerebellar ataxia.  Nat Genet. 1994 Aug;7(4):513-20.

Wapenaar, M. C., M. V. Schiaffino, M. T. Bassi, L. Schaefer, A. C. Chinault, H. Y. Zoghbi, and A. Ballabio.  A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.  Hum Mol Genet. 1994 Jul;3(7):1155-61.

Percy AK, Glaze DG, Schultz RJ, Zoghbi HY, Williamson D, Frost JD Jr, Jankovic JJ, del Junco D, Skender M, Waring S, & al. Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol. 1994 Apr;35(4):464-70.

van Slegtenhorst, M. A., M. T. Bassi, G. Borsani, M. C. Wapenaar, G. B. Ferrero, L. de Conciliis, E. Rugarli, A. Grillo, B. Franco, H. Y. Zoghbi, and A. Ballabio. A gene from the human Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr;3(4):547-52.

Percy, A. K., D. G. Glaze, R. J. Schultz, H. Y. Zoghbi, D. Williamson, J. D. Frost Jr., J. J. Jankovic, D. del Junco, M. Skender, S. Waring, and E. C. Myer. Rett Syndrome: Controlled study of an oral opiate antagonist, naltrexone.  Ann Neurol. 1994 Apr;35(4):464-70.

Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hulten M, Gould C, Baldini A, Zoghbi HY, & al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. 1994 Jan 15;49(2):229-34.

Durkin AS, Nierman WC, Zoghbi H, Jones C, Kozak CA, Maglott DR. Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels. Cytogenet Cell Genet. 1994;65(1-2):86-91.

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Banfi, S., M-Y. Chung, T. J. Kwiatkowski Jr., L. P. W. Ranum, A. E. McCall, A. C. Chinault, H. T. Orr, and H. Y. Zoghbi. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene in a yeast artificial chromosome contig spanning 1.2 Mb.  Genomics. 1993 Dec;18(3):627-35.

Ellison, K. A., E. J. Roth, E. R. B. McCabe, A. C. Chinault, and H. Y. Zoghbi. Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.  Am J Med Genet. 1993 Nov 15;47(7):1124-34.

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. 1993 Nov;18(2):452-4.

Chong, S. S., K. Kristjansson,H. Y. Zoghbi, and M. R. Hughes. Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23.  Genomics. 1993 Nov;18(2):355-9.

Chung, M-Y., L. P. W. Ranum, L. A. Duvick, A. Servadio, H. Y. Zoghbi, and H. T. Orr. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1.  Nat Genet. 1993 Nov;5(3):254-8.

Friedmann, M., L. T. Holth, H. Y. Zoghbi, and R. Reeves. Organization, inducible expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene.  Nucleic Acids Res. 1993 Sep 11;21(18):4259-67.

Wapenaar, M. C., M. T. Bassi, L. Schaefer, A. Grillo, G. B. Ferrero, A. C. Chinault, A. Ballabio, and H. Y. Zoghbi. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions.  Hum Mol Genet. 1993 Jul;2(7):947-52.

Schaefer, L., G. B. Ferrero, A. Grillo, M. T. Bassi, E. J. Roth, M. C. Wapenaar, G. J. van Ommen, T. K. Mohandas, M. Rocchi, H. Y. Zoghbi, and A. Ballabio. A high resolution deletion map of human Xp22 region.  Nat Genet. 1993 Jul;4(3):272-9.

Orr, H., M-Y. Chung, S. Banfi, T. J. Kwiatkowski Jr., A. Servadio, A. L. Beaudet, A. E. McCall, L. A. Duvick, L. P. W. Ranum, and H. Y. Zoghbi. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1.  Nat Genet. 1993 Jul;4(3):221-6.

Zoghbi HY, Frontali M, Orr HT, Sandkuijl L, Cann H, Sasaki H, Chamberlain S, Terrenato L, Rich SS. Linkage studies in dominantly inherited ataxias. Adv Neurol. 1993;61:133-7.

Worley, K. C., K. A. Ellison, Y. H. Zhang, D. F. Wang, J. Mason, E. J. Roth, V. Adams, D. D. Fogt, X. M. Zhu, J. A. Towbin, A. C. Chinault, H. Y. Zoghbi, and E. R. B. McCabe.  1993.  Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.  Genomics. 16:407-416.

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Allen, R. C., H. Y. Zoghbi, A. B. Moseley, H. M. Rosenblatt, and BJ. W. Belmont.  Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation.  Am J Hum Genet. 1992 Dec;51(6):1229-39.

Eng, C. M., B. A. Durtschi, H. Y. Zoghbi, and A. L. Beaudet. Isolation, mapping and characterization of two cDNA clones expressed in the cerebellum. Genomics. 1992 Nov;14(3):813-5.

Gruen JR, Goei VL, Summers KM, Capossela A, Powell L, Halliday J, Zoghbi H, Shukla H, Weissman SM. Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE). Genomics. 1992 Oct;14(2):232-40.

Huang, T. H. M., R. Cottingham, D. H. Ledbetter,and H. Y. Zoghbi. Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454 and DXS424, on the X chromosome using multiplex polymerase chain reaction.  Genomics. 1992 Jun;13(2):375-80.

Banfi, S., A. Ledbetter, A. C. Chinault, and H. Y. Zoghbi. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones.  Nucleic Acids Res. 1992 Apr 11;20(7):1814.

Cutting, G. R., S. Curristin, H. Y. Zoghbi, B. O'Hara, M. Seldin, and G. R. Uhl. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.  Genomics. 1992 Apr;12(4):801-6.

Meese, E. U., C. M. Witkowski, H. Y. Zoghbi, E. J. Stanbridge, and J. M. Trent.  Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6.Genomics. 1992 Mar;12(3):542-8.

Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zoghbi. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis.  Am J Hum Genet. 1992 Feb;50(2):278-87.

Chen, M., S. K. Mishra, H. Y. Zoghbi, R. W. Cottingham, H. T. Orr, H. M. Cann, and H. Donis-Keller. A comprehensive genetic linkage map of the human genome.  Science. 1992; 258:67-86.

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Summers KM, Tam KS, Bartley PB, Drysdale J, Zoghbi HY, Halliday JW, Powell LW. Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis. Hum Genet. 1991 Dec;88(2):175-8.

Huang, T. H. M., J. F. Hejtmancik, A. Edwards, A. L. Pettigrew, C. A. Herrera, H. A. Hammond, C. T. Caskey, H. Y. Zoghbi, and D. H. Ledbetter. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human HPRT locus (Xq26).  Am J Hum Genet. 1991 Dec;49(6):1312-9.

Le Borgne-Demarquoy, F., T. J. Kwiatkowski Jr., and H. Y. Zoghbi. Two dinucleotide repeat polymorphisms at the D6S202 locus.  Nucleic Acids Res. 1991 Nov 11;19(21):6060.

Keats, B. J. B., M. S. Pollack, A. McCall, M. A. Wilensky, L. J. Ward, M. Lu, and H. Y. Zoghbi.  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 HLA and F13A1 is excluded. Am J Hum Genet. 1991 Nov;49(5):972-7.

Ellison, K. A., C. P. Fill, and H. Y. Zoghbi. MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 1991 Sep 25;19(18):5101.

Lupski, J. R., C. A. Garcia, H. Y. Zoghbi, E. P. Hoffman, and F. G. Fenwick. Discordance of muscular dystrophy in monozygotic female twins:  Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 1;40(3):354-64.

Kwiatkowski Jr., T. J., A. L. Beaudet, B. J. Trask, and H. Y. Zoghbi.  Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: Analysis of dinucleotide polymorphisms on native gels.  Genomics. 1991 Aug;10(4):921-6.

Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, & al. 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. Am J Hum Genet. 1991 Jul;49(1):23-30.

Zoghbi, H. Y. , A. E. McCall, and F. Le Borgne-Demarquoy. Sixty five radiation hybrids for the short arm of human chromosome 6p: Their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR.  Genomics. 1991 Apr;9(4):713-20.

Ranum, L. P. W., M-Y. Chung, L. A. Duvick, H. Y. Zoghbi, and H. T. Orr.  Dinucleotide repeat polymorphism at the D6S109 locus.  Nucleic Acids Res. 1991 Mar 11;19(5):1171.

Blanche, H., H. Y. Zoghbi, E. W. Jabs, B. De Gouyon, R. Zunec, R. L. White, J. Dausset, and H. M. Cann.  A centromere-based genetic map of the short arm of human chromosome 6.  Genomics. 1991 Mar;9(3):420-8.

Weber, J. L., A. E. Kwitek, P. E. May, and H. Y. Zoghbi. Dinucleotide repeat polymorphism at the D6S105 locus.  Nucleic Acids Res. 1991 Feb 25;19(4):968.

Eng, C. M., C. A. Kozak, A. L. Beaudet, and H. Y. Zoghbi. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.  Genomics. 1991 Feb;9(2):278-82.

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Kwiatkowski Jr., T.J., H. Y. Zoghbi, S. A. Ledbetter, K. A. Ellison, and C. Chinault. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.  Nucleic Acids Res. 1990 Dec 11;18(23):7191-2.

Zoghbi, H. Y., D. H. Ledbetter, R. Schultz, A. K. Percy, and D. G. Glaze.  A de novo X; 3 translocation in Rett syndrome.  Am J Med Genet.1990 Jan;35(1):148-51.

Zoghbi, H. Y., C. M. Ballantyne, W. E. O’Brien, A. E. McCall, T. J. Kwiatkowski Jr., S. A. Ledbetter, and A. L. Beaudet.  Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.  Genomics.1990 Feb;6(2):352-7.

Zoghbi, H. Y., A. K. Percy, R. Schultz, and C. Fill.  Patterns of X chromosome  inactivation in Rett syndrome.  Brain Dev. 1990;12(1):131-5.

Zoghbi, H. Y. and A. E.  McCall.  1990.  TaqI polymorphism at the D6S91 locus.  Nucleic Acids Res.1990 Oct 11;18(19):5923.

Zoghbi, H. Y. and A. E. McCall. BclI and MspI polymorphisms at the D6S90 locus.  Nucleic Acids Res.1990 Oct 11;18(19):5922.

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Bibbins KB, Tsai JY, Schimenti J, Sarvetnick N, Zoghbi HY, Goodfellow P, Silver LM. Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics. 1989 Jul;5(1):139-43.

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. Am J Hum Genet. 1989 Feb;44(2):255-63.

Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, Percy AK. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol. 1989 Jan;25(1):56-60.

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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. 1988 Nov;3(4):396-8.

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. Ann Neurol. 1988 Jun;23(6):580-4.

Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL. Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. Am J Hum Genet. 1988 Jun;42(6):877-83.

Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet. 1988 Jun;42(6):839-46.

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 Res. 1988 Feb 25;16(4):1650.

Percy AK, Zoghbi HY, Lewis KR, Jankovic J. Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol. 1988;3 Suppl:S65-7.

Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol. 1988;3 Suppl:S76-8. Review.

Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol (Berl). 1988;76(2):142-58.

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Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol. 1987 Oct;44(10):1053-6.

Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987 Apr;21(4):377-82.

Percy AK, Zoghbi HY, Glaze DG. Rett syndrome: discrimination of typical and variant forms. Brain Dev. 1987;9(5):458-61.

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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. Ann Neurol. 1986 Sep;20(3):367-9.

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Zoghbi HY, Okumura S, Laurent JP, Fishman MA. Acute effect of glycerol on net cerebrospinal fluid production in dogs. J Neurosurg. 1985 Nov;63(5):759-62.

Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med. 1985 Oct 10;313(15):921-4.

Percy AK, Zoghbi H, Riccardi VM. Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 1985;7(3):300-4.

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