Publications
2006 - 2005 - 2004 - 2003 - 2002 - 2001 - 2000
For publications older than 2000 click here.
2006
Stevenson WS, Hoyt R, Bell A, Guipponi M, Juneja S, Grigg AP, Curtis DJ, Scott HS, Szer J, Alexander WS, Tuckfield A, Roberts AW. Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood. Pathology. 2006 Aug;38(4):336-42. PubMed.
Sang Q, Kim MH, Kumar S, Bye N, Morganti-Kossman MC, Gunnersen J, Fuller S, Howitt J, Hyde L, Beissbarth T, Scott HS, Silke J, Tan SS. Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury. J Neurosci. 2006 Jul 5;26(27):7234-44. PubMed. 
Brown AL, Wilkinson CR, Waterman SR, Kok CH, Salerno DG, Diakiw SM, Reynolds B, Scott HS, Tsykin A, Glonek GF, Goodall GJ, Solomon PJ, Gonda TJ, D'Andrea RJ. Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling. J Leukoc Biol. 2006 Jun 12; PubMed.
Brodnicki TC, Fletcher AL, Pellicci DG, Berzins SP, McClive P, Quirk F, Webster KE, Scott HS, Boyd RL, Godfrey DI, Morahan. Localization of Idd11 Is Not Associated With Thymus and NKT Cell Abnormalities in NOD Mice. Diabetes. 2005 Dec;54(12):3453-3457. PubMed
Scott HS. Technophiles seek genomic imperfections with the Greek gods at Atlantis. Nat Genet. 2005 Oct;37(10):1019-21. PubMed
Guipponi M, Herbert S, Toh MY, Poetter K, Forrest S, Scott HS. Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput. Biotechniques. 2005 Jul;39(1):34, 36, 38, 40. PubMed
George AJ, Holsinger RM, McLean CA, Tan SS, Scott HS, Cardamone T, Cappai R, Masters CL, Li QX. Decreased phosphatidylethanolamine binding protein expression correlates with Abeta accumulation in the Tg2576 mouse model of Alzheimer's disease. Neurobiol Aging. 2005 Jun 4. PubMed
Webster KE, O'Bryan MK, Fletcher S, Crewther PE, Aapola U, Craig J, Harrison DK, Aung H, Phutikanit N, Lyle R, Meachem SJ, Antonarakis SE, de Kretser DM, Hedger MP, Peterson P, Carroll BJ, Scott HS. Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4068-73. Epub 2005 Mar 7. PubMed
Smyth GK, Michaud J, Scott HS. Use of within-array replicate spots for assessing differential expression in microarray experiments. Bioinformatics. 2005 Jan 18. PubMed
Liston A, Gray DH, Lesage S, Fletcher AL, Wilson J, Webster KE, Scott HS, Boyd RL, Peltonen L, Goodnow CC. Gene Dosage-limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity. J Exp Med. 2004 Oct 18;200(8):1015-26. PubMed
Boon WM, Beissbarth T, Hyde L, Smyth G, Gunnersen J, Denton DA, Scott H, Tan SS. A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering. Proc Natl Acad Sci U S A. 2004 Oct 4 [Epub ahead of print] PubMed
Escher R, Muhlematter D, Scott HS, Jotterand M, Tobler A. Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. Haematologica. 2004 Aug;89(8):ECR26.PubMed Full text
Escher R, Jones A, Hagos F, Carmichael C, Horwitz M, Olopade OI, Scott HS. Chromosome band 16q22-linked familial AML: Exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms. Genes Chromosomes Cancer. 2004 Nov;41(3):278-82. PubMed
Beissbarth T, Hyde L, Smyth GK, Job C, Boon WM, Tan SS, Scott HS, Speed TP. Statistical modeling of sequencing errors in SAGE libraries. Bioinformatics. 2004 Aug 4;20 Suppl 1:I31-I39. PubMed
Koukoulas I, Augustine C, Silkenbeumer N, Gunnersen JM, Scott HS, Tan SS. Genomic organisation and nervous system expression of radial spoke protein 3. Gene. 2004 Jul 7;336(1):15-23. PubMed
Escher R, Hagos F, Michaud J, Sveen L, Horwitz M, Olopade OI, Scott HS. No evidence for core-binding factor CBFbeta as a leukemia predisposing factor in chromosome 16q22-linked familial AML. Leukemia. 2004 Apr;18(4):881 PubMed
Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004 Jan;23(1):77-84. PubMed
Friedli M, Guipponi M, Bertrand S, Bertrand D, Neerman-Arbez M, Scott HS, Antonarakis SE, Reymond A. Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene. 2003 Nov 27;320:31-40. PubMed
Lalioti MD, Antonarakis SE, Scott HS. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. Cytogenet Genome Res. 2003;100(1-4):213-23. PubMed
Wang CY, Shi JD, Yang P, Kumar PG, Li QZ, Run QG, Su YC, Scott HS, Kao KJ, She JX. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). Gene. 2003 Mar 13;306:37-44. PubMed
Michaud J, Scott HS, Escher R. AML1 interconnected pathways of leukemogenesis. Cancer Invest. 2003;21(1):105-36. Review. Erratum in: Cancer Invest. 2003;21(4):659. PubMed
Blackshaw S, Kuo WP, Park PJ, Tsujikawa M, Gunnersen JM, Scott HS, Boon WM, Tan SS, Cepko CL. MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues. Genome Biol. 2003;4(3):R17. Epub 2003 Feb 18. PubMed
Heath, W.R & Scott H.S. (2002). Education and promiscuity. Nature; 420: 468-469.
Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. PMID: 12393794 [PubMed - indexed for MEDLINE]
Wattenhofer M., Di Iorio V., Rabionet R., Dougherty L., Pampanos A., Schwede T., Montserrat-Sentis B., Arbones L., Iliades T., Pasquadibisceglie A., D'Amelio M., Alwan S., Rossier C., Dahl H.H., Petersen M.B., Estivill X., Gasparini P., Scott H.S. & Antonarakis S.E. (2002). Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med Feb; 80 (2): 124-31. PubMed
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS. (2002). In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood Feb 15; 99 (4): 1364-72. PubMed
Antonarakis S.E., Lyle R., Chrast R., Scott H.S. (2001). Differential gene expression studies to explore the molecular pathophysiology of Down syndrome. Brain Res Brain Res Rev. Oct;36(2-3):265-74. PubMed
Masmoudi S., Antonarakis S.E., Schwede T., Ghorbel A.M., Grati M., Pappasavas M.P., Drira M., Elgaied-Boulila A., Wattenhofer M., Rossier C., Scott H.S., Ayadi H., Guipponi M. (2001). Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Hum Mutat Jul;18(2):101. PubMed
Scott HS, Chrast R. (2001). Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE). Genet Eng (N Y). 2001;23:201-19. PubMed
Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K. , APECED mutations in the autoimmune regulator (AIRE) gene.
Hum Mutat. 2001 Sep;18(3):205-11. Review.
PMID: 11524731 PubMed
Ben-Yosef T., Wattenhofer M., Riazuddin S., Ahmed Z.M., Scott H.S., Kudoh J., Shibuya K., Antonarakis S.E., Bonne-Tamir B., Radhakrishna U., Naz S., Ahmed Z., Riazuddin S., Pandya A., Nance W.E., Wilcox E.R., Friedman T.B. & Morell R.J. (2001). Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
J Med Genet. 2001 Jun;38(6):396-400. PubMed
Wattenhofer M., Shibuya K., Kudoh J., Lyle R., Michaud J., Rossier C., Kawasaki K., Asakawa S., Minoshima S., Berry A., Bonne-Tamir B., Shimizu N., Antonarakis S.E. & Scott H.S. (2001). Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Hum Genet. Feb;108(2):140-7. PubMed
Bartoloni L., Blouin J.L., Maiti A.K., Sainsbury A., Rossier C., Gehrig C., She J.X., Marron M.P., Lander E.S., Meeks M., Chung E., Armengot M., Jorissen M., Scott H.S., Delozier-Blanchet C.D., Gardiner R.M. & Antonarakis S.E. (2001). Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
Genomics. Feb 15;72(1):21-33. PubMed
Deutsch S., Iseli C., Bucher P., Antonarakis S.E. & Scott H.S. (2001). A cSNP map and database for human chromosome 21. Genome Res. Feb;11(2):300-7. PubMed
Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S., Minoshima S., Younus F., Mehdi S.Q., Radhakrishna U., Papasavvas M.P., Gehrig C., Rossier C., Korostishevsky M., Gal A., Shimizu N., Bonne-Tamir B., Antonarakis S.E. (2001). Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet. Jan;27(1):59-63. PubMed
Scott, Hamish. What transcripts are found in a human cell?
Genome Biology. 2000, 1:reports031 Full text
Chrast R., Scott H.S., Papasavvas M.P., Rossier C., Antonarakis E.S., Barras C., Davisson M.T., Schmidt C., Estivill X., Dierssen M., Pritchard M., Antonarakis S.E. (2000). The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.
Genome Res. Dec;10(12):2006-21. PubMed
Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima S, Shimizu N, Scott HS, Antonarakis SE. (2000). Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Genomics. Dec 1;70(2):190-200. PubMed
Michaud J., Kudoh J., Berry A., Bonne-Tamir B., Lalioti M.D., Rossier C., Shibuya K., Kawasaki K., Asakawa S., Minoshima S., Shimizu N., Antonarakis S.E., Scott H.S. (2000). Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics. Aug 15;68(1):71-9. PubMed
Guipponi M., Brunschwig K., Chamoun Z., Scott H.S., Shibuya K., Kudoh J., Delezoide A.L., El Samadi S., Chettouh Z., Rossier C., Shimizu N., Mueller F., Delabar J.M., Antonarakis S.E. (2000). C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Genomics. Aug 15;68(1):30-40. PubMed
Berry A., Scott H.S., Kudoh J., Talior I., Korostishevsky M., Wattenhofer M., Guipponi M., Barras C., Rossier C., Shibuya K., Wang J., Kawasaki K., Asakawa S., Minoshima S., Shimizu N., Antonarakis S., Bonne-Tamir B. (2000). Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics. Aug 15;68(1):22-9. PubMed
Heino M., Peterson P., Sillanpaa N., Guerin S., Wu L., Anderson G., Scott H.S., Antonarakis S.E., Kudoh J., Shimizu N., Jenkinson E.J., Naquet P.& Krohn K.J. (2000). RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
Eur J Immunol. Jul;30(7):1884-93. PubMed
Chrast R., Scott H.S., Madani R., Huber L., Wolfer D.P., Prinz M., Aguzzi A., Lipp H.P. & Antonarakis S.E. (2000). Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome. Hum Mol Genet. Jul 22;9(12):1853-64. PubMed
Scott HS, Antonarakis SE, Mittaz L, Lalioti MD, Younus F, Mohyuddin A, Mehdi SQ, Gal A. (2000). Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. Adv Otorhinolaryngol. 2000;56:158-63. Review. PubMed
Aapola U., Kawasaki K., Scott H.S., Ollila J., Vihinen M., Heino M., Shintani A., Kawasaki K., Minoshima S., Krohn K., Antonarakis S.E., Shimizu N., Kudoh J. & Peterson P. (2000). Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Genomics. May 1;65(3):293-8. PubMed
Pitkanen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vahamurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, Peterson P.
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein.
J Biol Chem. 2000 Jun 2;275(22):16802-9.
PMID: 10748110 PubMed
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