Huda Y. Zoghbi, M.D.

Professor of Pediatrics
Professor of Neurology
Professor of Molecular and Human Genetics
Professor of Neuroscience

Clinical Service Area

Pediatrics

Specialty

Neurology

Board Certification

American Board of Pediatrics
American Board of Psychiatry and Neurology, Neurology with Special Qualifications in Child Neurology

Clinic Appointments

832-822-5046

Consult

832-822-5046

Medical School

Meharry Medical College, Nashville, TN

Residency

Neurology, Baylor College of Medicine, Houston, TX
Pediatrics, Baylor College of Medicine, Houston, TX

Fellowship

Child Neurology, Baylor College of Medicine, Houston, TX

Clinic Location

Blue Bird Circle Clinic for Pediatric Neurology
TCH Clinical Care Center
6701 Fannin St., Suite 950
Houston, TX 77030

Research Interests

Genetic and cell biological approaches to explore the pathogenesis of Rett syndrome and autistic spectrum disorders, polyglutamine neurodegenerative diseases, and to study genes essential for normal neurodevelopment

Publications
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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;39:373-9.
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;:.
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;132:2478-88.
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;281:26714-24.
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, et al.. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006;8:784-92.
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;127:1335-47.
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;125:801-14.
Maricich SM, Zoghbi HY. Getting back to basics. Cell 2006;126:05-Nov.
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;103:18267-72.
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;26:319-27.
Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006;16:276-81.
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;42: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;14:679-91.
Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005;6:743-55.
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;14:205-20.
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 Dev 2005;19:2412-7.
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;122:633-44.
Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron 2005;48:31-43.
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. Proc Natl Acad Sci U S A 2005;102:17551-8.
Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol 2005;20:736-40.
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. Hum Mol Genet 2004;13:2679-89.
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;74:1216-24.
Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 2004;10:118-28.
Opal P, Garcia JJ, McCall AE, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice. Mol Cell Biol 2004;24:3140-9.
Young JI, 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;74:511-20.
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 2003;113:457-68.
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. Mol Cell Neurosci 2003;23:12-Jan.
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. J Biol Chem 2003;278:34691-9.
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 2003;130:221-32.
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. Hum Mol Genet 2003;12:2789-95.
Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet 2003;4:296-307.
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 2003;37:383-401.
Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse?. Science 2003;302:826-30.
Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reyes C, Yuva-Paylor L, Armstrong D, Zoghbi H, Sweatt JD, Paylor R, Nelson DL. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci 2002;22:2753-63.
Lin X, Jung J, Kang D, Xu B, Zaret KS, Zoghbi H. Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. Gastroenterology 2002;123:345-51.
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;58:983-4.
Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends Mol Med 2002;8:232-6.
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;11:3237-48.
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 2002;35:243-54.
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;11:115-24.
Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet 2002;111:164-8.
Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 2002;71:1259-72.
Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002;8:82-6.
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;12:1611-6.
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 2002;34:905-19.
Zoghbi HY. Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev 2002;8:59-60.
Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends Genet 2002;18:463-71.
Zoghbi HY, Nelson D. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci 2002;20:467-8.
Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1. Neuron 2001;30:411-22.
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. Mamm Genome 2001;12:796-8.
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;2:7.
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. Hum Mol Genet 2001;10:1511-8.
Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis 2001;8:974-81.
Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2001;14:171-6.
Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev 2001;:S147-51.
Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nat Rev Neurosci 2001;2:484-91.
Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science 2001;294:2155-8.
Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000;1:281-328.
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 1997;390:169-72.
Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol 1997;7:927-42.
Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997;49:1009-13.
Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 1997;389:974-8.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
Zoghbi HY. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res 1997;41:722-6.
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). Hum Mol Genet 1996;5:33-40.
Banfi S, Zoghbi HY. Detection of chimerism in YAC clones. Methods Mol Biol 1996;54:115-21.
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. Hum Mol Genet 1996;5:1207-16.
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. Hum Mol Genet 1996;5:1311-8.
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 1996;34:166-72.
Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72.
O'Donnell DM, Zoghbi HY. Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr 1995;7:715-25.
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. Nat Genet 1995;10:94-8.
Servadio A, McCall A, Zoghbi H, Eicher EM. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. Genomics 1995;29:812-3.
Zoghbi HY. Spinocerebellar ataxia type 1. Clin Neurosci 1995;3:11-May.
Zoghbi HY. Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. Proc Assoc Am Physicians 1995;107:231-6.
Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Semin Cell Biol 1995;6:29-35.
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, Jr., McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7:513-20.
Banfi S, Zoghbi HY. Molecular genetics of hereditary ataxias. Baillieres Clin Neurol 1994;3:281-95.
Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hulten M, Gould C, Baldini A, Zoghbi HY, et al.. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1994;49:229-34.
van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, et al.. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet 1994;3:547-52.
Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet 1994;3:1155-61.
Banfi S, Chung MY, Kwiatkowski TJ, Jr., 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 1993;18:627-35.
Chong SS, Kristjansson K, Zoghbi HY, Hughes MR. Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics 1993;18:355-9.
Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY. Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet 1993;47:1124-34.
Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJ, Mohandas TK, Rocchi M, Zoghbi HY, et al.. A high resolution deletion map of human chromosome Xp22. Nat Genet 1993;4:272-9.
Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY. 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;2:947-52.
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.
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 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;51:1229-39.
Banfi S, Ledbetter SA, Chinault AC, Zoghbi HY. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. Nucleic Acids Res 1992;20:1814.
Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 1992;50:278-87.
Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics 1992;14:813-5.
Huang TH, Cottingham RW, Jr., 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 1992;13:375-80.
Ellison KA, Fill CP, Zoghbi HY. MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res 1991;19:5101.
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 1991;9:278-82.
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). Am J Hum Genet 1991;49:1312-9.
Kwiatkowski TJ, Jr., 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 1991;10:921-6.
Le Borgne-Demarquoy F, Kwiatowski TJ, Jr., Zoghbi HY. Two dinucleotide repeat polymorphisms at the D6S202 locus. Nucleic Acids Res 1991;19:6060.
Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. 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;40:354-64.
Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ, Jr., McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et 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;49:23-30.
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 1991;9:713-20.
Kwiatkowski TJ, Jr., Zoghbi HY, Ledbetter SA, Ellison KA, Chinault AC. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res 1990;18:7191-2.
Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ, Jr., Ledbetter SA, Beaudet AL. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics 1990;6:352-7.
Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. Am J Med Genet 1990;35:148-51.
Zoghbi HY, McCall AE. BclI and MspI polymorphisms at the D6S90 locus. Nucleic Acids Res 1990;18:5922.
Zoghbi HY, McCall AE. TaqI polymorphism at the D6S91 locus. Nucleic Acids Res 1990;18:5923.
Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 1990;12:131-5.
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;25:56-60.
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;44:255-63.
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;16:1650.
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;42:839-46.
Percy AK, Zoghbi HY, Lewis KR, Jankovic J. Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol 1988;:S65-7.
Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol 1988;:S76-8.
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;42:877-83.
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;3:396-8.
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;23:580-4.
Percy AK, Zoghbi HY, Glaze DG. Rett syndrome: discrimination of typical and variant forms. Brain Dev 1987;9:458-61.

Contact Information

Huda Y. Zoghbi, M.D.
Department of Pediatrics-Neurology
Baylor College of Medicine
One Baylor Plaza, MS T809
Houston, Texas 77030

Tel: 713-798-6523
Fax: 713-798-8728
Email: