Huda Zoghbi Lab



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.




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.




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.




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.




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. Firulli, 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.




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.




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.




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.




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.




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.