Gagliardi, L., K. H. Ling, C. H. Kok, J. Carolan, P. J. Brautigan, R. Kenyon, R. J. D'Andrea, M. van der Hoek, C. N. Hahn, D. J. Torpy and H. S. Scott. "Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia." Endocrine-Related Cancer Mar 1. [Epub ahead of print]: (2012)

Kazenwadel, J., G. A. Secker, Y. J. Liu, J. A. Rosenfeld, R. S. Wildin, J. Cuellar-Rodriguez, A. P. Hsu, S. Dyack, C. V. Fernandez, C. E. Chong, M. Babic, P. G. Bardy, A. Shimamura, M. Zhang, T. Walsh, S. M. Holland, D. D. Hickstein, M. S. Horwitz, C. N. Hahn, H. S. Scott and N. L. Harvey. "Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature." Blood 119: 1283-1291. (2012)

Leong, D. W., J. C. Komen, C. A. Hewitt, E. Arnaud, M. McKenzie, B. Phipson, M. Bahlo, A. Laskowski, S. A. Kinkel, G. M. Davey, W. R. Heath, A. K. Voss, R. P. Zahedi, J. J. Pitt, R. Chrast, A. Sickmann, M. T. Ryan, G. K. Smyth, D. R. Thorburn and H. S. Scott. "Proteomic and metabolomic analyses of a mitochondrial complex I deficient mouse model generated by spontaneous B2 Short Interspersed Nuclear Element (SINE) insertion into the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene." J Biol Chem Apr 25. [Epub ahead of print]: (2012)

Parker, W. T., M. Ho, H. S. Scott, T. P. Hughes and S. Branford. "Poor response to second-line kinase inhibitors in CML patients with multiple low-level mutations, irrespective of their resistance profile." Blood 119: 2234-2238. (2012)

Sharma, A., H. T. Tan, G. Cheetham, H. S. Scott and M. P. Brown. "Association of Epidermal Growth Factor Receptor Mutations including Novel Mutations with Lack of Clinical Response to Gefitinib in Three Non-Small Cell Lung Cancer Patients." Journal of Thoracic Oncology 7: 941-942. (2012)

Torpy, D. J., B. A. Lundgren, J. T. Ho, J. G. Lewis, H. S. Scott and V. Mericq. "CBG Santiago: A Novel CBG Mutation." J Clin Endocrinol Metab 97: E151-155. (2012)

Wang, X., M. Laan, R. Bichele, K. Kisand, H. S. Scott and P. Peterson. "Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens." Frontiers in Immunology 3: (2012)

Drini, M., N. C. Wong, H. S. Scott, J. M. Craig, A. Dobrovic, C. A. Hewitt, J. Young, R. Saffery and F. A. Macrae. "Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in Hyperplastic Polyposis Syndrome." PLoS One 6: e16831. (2011 )

Ahlgren, K. M., S. Moretti, B. A. Lundgren, I. Karlsson, E. Ahlin, A. Norling, A. Hallgren, J. Perheentupa, J. Gustafsson, F. Rorsman, P. E. Crewther, J. Ronnelid, S. Bensing, H. S. Scott, O. Kampe, L. Romani and A. Lobell. "Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model." Eur J Immunol 41: 235-245. (2011)

Aricha, R., T. Feferman, H. S. Scott, M. C. Souroujon, S. Berrih-Aknin and S. Fuchs. "The susceptibility of Aire(-/-) mice to experimental myasthenia gravis involves alterations in regulatory T cells." J Autoimmun 36: 16-24. (2011)

Butcher, C. M., P. J. Neufing, L. Eriksson, C. L. Carmichael, E. J. Wilkins, J. V. Melo, I. D. Lewis, P. G. Bardy, H. S. Scott and R. J. D'Andrea. "RUNX1 mutations are rare in chronic phase polycythaemia vera." Br J Haematol 153: 672-675. (2011)

Fasquelle, L., H. S. Scott, M. Lenoir, J. Wang, G. Rebillard, S. Gaboyard, S. Venteo, F. Francois, A. L. Mausset-Bonnefont, S. E. Antonarakis, E. Neidhart, C. Chabbert, J. L. Puel, M. Guipponi and B. Delprat. "Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing." J Biol Chem 286: 17383-17397. (2011)

Hahn, C. N., C.-E. Chong, C. L. Carmichael, E. J. Wilkins, P. J. Brautigan, X.-C. Li, M. Babic, M. Lin, A. Carmagnac, Y. K. Lee, C. M. Butcher, K. L. Friend, P. G. Ekert, C. H. Kok, L. Gagliardi, A. L. Brown, I. D. Lewis, L. B. To, A. E. Timms, J. Storek, S. Moore, M. Altree, R. Escher, P. G. Bardy, G. K. Suthers, R. J. D'Andrea, M. S. Horwitz and H. S. Scott. "Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia." Nature Genetics 43: 1012-1017. (2011)

Hubert, F. X., S. A. Kinkel, G. M. Davey, B. Phipson, S. N. Mueller, A. Liston, A. I. Proietto, P. Z. Cannon, S. Forehan, G. K. Smyth, L. Wu, C. C. Goodnow, F. R. Carbone, H. S. Scott and W. R. Heath. "Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance." Blood 118: 2462-2472. (2011)

Kont, V., A. Murumagi, L. O. Tykocinski, S. A. Kinkel, K. E. Webster, K. Kisand, L. Tserel, M. Pihlap, P. Strobel, H. S. Scott, A. Marx, B. Kyewski and P. Peterson. "DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues." Mol Immunol 49: 518-526. (2011)

Kraft, M., I. C. Cirstea, A. K. Voss, T. Thomas, I. Goehring, B. N. Sheikh, L. Gordon, H. Scott, G. K. Smyth, M. R. Ahmadian, U. Trautmann, M. Zenker, M. Tartaglia, A. Ekici, A. Reis, H.-G. Dörr, A. Rauch and C. T. Thiel. "Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice." The Journal of Clinical Investigation 121: 3479-3491. (2011)

Ling, K. H., P. J. Brautigan, C. N. Hahn, T. Daish, J. R. Rayner, P. S. Cheah, J. M. Raison, S. Piltz, J. R. Mann, D. M. Mattiske, P. Q. Thomas, D. L. Adelson and H. S. Scott. "Deep sequencing analysis of the developing mouse brain reveals a novel microRNA." BMC Genomics 12: 176. (2011)

Ling, K. H., C. A. Hewitt, T. Beissbarth, L. Hyde, P. S. Cheah, G. K. Smyth, S. S. Tan, C. N. Hahn, T. Thomas, P. Q. Thomas and H. S. Scott. "Spatiotemporal Regulation of Multiple Overlapping Sense and Novel Natural Antisense Transcripts at the Nrgn and Camk2n1 Gene Loci during Mouse Cerebral Corticogenesis." Cereb Cortex 21: 683-697. (2011)

Parker, W. T., R. M. Lawrence, M. Ho, D. L. Irwin, H. S. Scott, T. P. Hughes and S. Branford. "Sensitive Detection of BCR-ABL1 Mutations in Patients With Chronic Myeloid Leukemia After Imatinib Resistance Is Predictive of Outcome During Subsequent Therapy." J Clin Oncol 29: 4250-4259. (2011)

Pomie, C., R. Vicente, Y. Vuddamalay, B. A. Lundgren, M. van der Hoek, G. Enault, J. Kagan, N. Fazilleau, H. S. Scott, P. Romagnoli and J. P. van Meerwijk. "Autoimmune regulator (AIRE)-deficient CD8+CD28low regulatory T lymphocytes fail to control experimental colitis." Proc Natl Acad Sci U S A 108: 12437-12442. (2011)

Rao, N., C. M. Butcher, I. D. Lewis, D. M. Ross, J. V. Melo, H. S. Scott, P. G. Bardy and R. J. D'Andrea. "Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient." Br J Haematol Aug 22. doi: 10.1111/j.1365-2141.2011.08837.x. [Epub ahead of print]: (2011)

Zamudio, N. M., H. S. Scott, K. Wolski, C. Y. Lo, C. Law, D. Leong, S. A. Kinkel, S. Chong, D. Jolley, G. K. Smyth, D. de Kretser, E. Whitelaw and M. K. O'Bryan. "DNMT3L Is a Regulator of X Chromosome Compaction and Post-Meiotic Gene Transcription." PLoS One 6: e18276. (2011)

Carmichael, C. L., E. J. Wilkins, H. Bengtsson, M. S. Horwitz, T. P. Speed, P. C. Vincent, G. Young, C. N. Hahn, R. Escher and H. S. Scott. "Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes." British Journal of Haematology 150: 382-385. (2010)

Cowin, P. A., E. Gold, J. Aleksova, M. K. O'Bryan, P. M. D. Foster, H. S. Scott and G. P. Risbridger. "Vinclozolin Exposure in Utero Induces Postpubertal Prostatitis and Reduces Sperm Production via a Reversible Hormone-Regulated Mechanism." Endocrinology 151: 783-792. (2010)

George, A. J., L. Gordon, T. Beissbarth, I. Koukoulas, R. M. D. Holsinger, V. Perreau, R. Cappai, S. S. Tan, C. L. Masters, H. S. Scott and Q. X. Li. "A Serial Analysis of Gene Expression Profile of the Alzheimer's Disease Tg2576 Mouse Model." Neurotoxicity Research 17: 360-379. (2010)

Guipponi, M., Q. X. Li, L. Hyde, T. Beissbarth, G. K. Smyth, C. L. Masters and H. S. Scott. "SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1(G93A) Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology." Journal of Molecular Neuroscience 41: 172-182. (2010)

Hanifa, S., H. S. Scott, P. Crewther, M. Guipponi and J. Tan. "Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice." Neuroreport 21: 897-901. (2010)

Hewitt, C. A., K. H. Ling, T. D. Merson, K. M. Simpson, M. E. Ritchie, S. L. King, M. A. Pritchard, G. K. Smyth, T. Thomas, H. S. Scott and A. K. Voss. "Gene Network Disruptions and Neurogenesis Defects in the Adult Ts1Cje Mouse Model of Down Syndrome." Plos One 5: e11561. (2010)

Jongmans, M. C. J., R. P. Kuiper, C. L. Carmichael, E. J. Wilkins, N. Dors, A. Carmagnac, A. Y. N. Schouten-van Meeteren, X. Li, M. Stankovic, E. Kamping, H. Bengtsson, E. Schoenmakers, A. G. van Kessel, P. M. Hoogerbrugge, C. N. Hahn, P. P. Brons, H. S. Scott and N. Hoogerbrugge. "Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome." Leukemia 24: 242-246. (2010)

Kedzierska, K., S. A. Valkenburg, C. Guillonneau, F. X. Hubert, T. Cukalac, J. M. Curtis, J. Stambas, H. S. Scott, L. Kedzierski, V. Venturi and M. P. Davenport. "Diversity and clonotypic composition of influenza-specific CD8(+) TCR repertoires remain unaltered in the absence of Aire." European Journal of Immunology 40: 849-858. (2010)

Kelly, R. M., E. M. Goren, P. A. Taylor, S. N. Mueller, H. E. Stefanski, M. J. Osborn, H. S. Scott, E. A. Komarova, A. V. Gudkov, G. A. Hollander and B. R. Blazar. "Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantation." Blood 115: 1088-1097. (2010)

Ko, H. J., S. A. Kinkel, F. X. Hubert, Z. Nasa, J. Chan, C. Siatskas, P. Hirubalan, B. H. Toh, H. S. Scott and F. Alderuccio. "Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis." Eur J Immunol 40: 3499-3509. (2010)

Milicevic, Z., N. M. Milicevic, M. Laan, P. Peterson, K. Kisand, H. S. Scott and J. Westermann. "Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice." Immunology and Cell Biology 88: 50-56. (2010)

Shi, W., C. A. de Graaf, S. A. Kinkel, A. H. Achtman, T. Baldwin, L. Schofield, H. S. Scott, D. J. Hilton and G. K. Smyth. "Estimating the proportion of microarray probes expressed in an RNA sample." Nucleic Acids Research 38: 2168-2176. (2010)

Campbell, I. K., S. A. Kinkel, S. F. Drake, A. van Nieuwenhuijze, F. X. Hubert, D. M. Tarlinton, W. R. Heath, H. S. Scott and I. P. Wicks. "Autoimmune Regulator Controls T Cell Help for Pathogenetic Autoantibody Production in Collagen-Induced Arthritis." Arthritis and Rheumatism 60: 1683-1693. (2009)

Carmichael, C. L., I. J. Majewski, W. S. Alexander, D. Metcalf, D. J. Hilton, C. A. Hewitt and H. S. Scott. "Hematopoietic defects in the Ts1Cje mouse model of Down syndrome." Blood 113: 1929-1937. (2009)

Fletcher, A. L., T. E. Lowen, S. Sakkal, J. J. Reiseger, M. V. Hammett, N. Seach, H. S. Scott, R. L. Boyd and A. P. Chidgey. "Ablation and Regeneration of Tolerance-Inducing Medullary Thymic Epithelial Cells after Cyclosporine, Cyclophosphamide, and Dexamethasone Treatment." Journal of Immunology 183: 823-831. (2009)

Fletcher, A. L., N. Seach, J. J. Reiseger, T. E. Lowen, M. V. Hammett, H. S. Scott and R. L. Boyd. "Reduced Thymic Aire Expression and Abnormal NF-kappa B2 Signaling in a Model of Systemic Autoimmunity." Journal of Immunology 182: 2690-2699. (2009)

Gagliardi, L., C. Hotu, G. Casey, W. J. Braund, K. H. Ling, T. Dodd, J. Manavis, P. G. Devitt, R. Cutfield, Z. Rudzki, H. S. Scott and D. J. Torpy. "Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds." Clinical Endocrinology 70: 883-891. (2009)

Hubert, F. X., S. A. Kinkel, P. E. Crewther, P. Z. F. Cannon, K. E. Webster, M. Link, R. Uibo, M. K. O'Bryan, A. Meager, S. P. Forehan, G. K. Smyth, L. Mittaz, S. E. Antonarakis, P. Peterson, W. R. Heath and H. S. Scott. "Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype." Journal of Immunology 182: 3902-3918. (2009)

Laan, M., K. Kisand, V. Kont, K. Moll, L. Tserel, H. S. Scott and P. Peterson. "Autoimmune Regulator Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4(+) Thymocytes." Journal of Immunology 183: 7682-7691. (2009)

Ling, K. H., C. A. Hewitt, T. Beissbarth, L. Hyde, K. Banerjee, P. S. Cheah, P. Z. Cannon, C. N. Hahn, P. Q. Thomas, G. K. Smyth, S. S. Tan, T. Thomas and H. S. Scott. "Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling." Genome Biology 10: (2009)

Milicevic, N. M., Z. Milicevic, M. D. Miljkovic, M. Labudovic-Borovic, M. Laan, P. Peterson, K. Kisand, H. Scott, N. Qu and J. Westermann. "Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice." Histochemistry and Cell Biology 131: 643-649. (2009)

Roberts, N. A., G. E. Desanti, D. R. Withers, H. R. Scott, W. E. Jenkinson, P. J. L. Lane, E. J. Jenkinson and G. Anderson. "Absence of thymus crosstalk in the fetus does not preclude hematopoietic induction of a functional thymus in the adult." European Journal of Immunology 39: 2395-2402. (2009)

Alimohammadi, M., P. Bjorklund, A. Hallgren, N. Pontynen, G. Szinnai, N. Shikama, M. P. Keller, O. Ekwall, S. A. Kinkel, E. S. Husebye, J. Gustafsson, F. Rorsman, L. Peltonen, C. Betterle, J. Perheentupa, G. Akerstrom, G. Westin, H. S. Scott, G. A. Hollander and O. Kampe. "Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen." New England Journal of Medicine 358: 1018-1028. (2008)

Butcher, C. M., U. Hahn, L. B. To, J. Gecz, E. J. Wilkins, H. S. Scott, P. G. Bardy and R. J. D'Andrea. "Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients." Leukemia 22: 870-873. (2008)

Ferguson, B. J., C. Alexander, S. W. Rossi, I. Liiv, A. Rebane, C. L. Worth, J. Wong, M. Laan, P. Peterson, E. J. Jenkinson, G. Anderson, H. S. Scott, A. Cooke and T. Rich. "AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity." Journal of Biological Chemistry 283: 1723-1731. (2008)

Guipponi, M., M. Y. Toh, J. Tan, D. Park, K. Hanson, E. Ballana, D. Kwong, P. Z. F. Cannon, Q. Y. Wu, A. Gout, M. Delorenzi, T. P. Speed, R. J. H. Smith, H. H. Dahl, M. Petersen, R. D. Teasdale, X. Estivill, W. J. Park and H. S. Scott. "An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss." Human Mutation 29: 130-141. (2008)

Hubert, F. X., S. A. Kinkel, K. E. Webster, P. Cannon, P. E. Crewther, A. I. Proeitto, L. Wu, W. R. Heath and H. S. Scott. "A specific anti-Aire antibody reveals Aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery." Journal of Immunology 180: 3824-3832. (2008)

Irla, M., S. Hugues, J. Gill, T. Nitta, Y. Hikosaka, I. R. Williams, F. X. Hubert, H. S. Scott, Y. Takahama, G. A. Hollander and W. Reith. "Autoantigen-specific interactions with CD4(+) thymocytes control mature medullary thymic epithelial cell cellularity." Immunity 29: 451-463. (2008)

Kisand, K., M. Link, A. S. B. Wolff, A. Meager, L. Tserel, T. Org, A. Murumagi, R. Uibo, N. Willcox, K. T. Podkrajsek, T. Battelino, A. Lobell, O. Kampe, K. Lima, A. Meloni, B. Ergun-Longmire, N. K. Maclaren, J. Perheentupa, K. J. E. Krohn, H. S. Scott, E. S. Husebye and P. Peterson. "Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes." Blood 112: 2657-2666. (2008)

Kont, V., M. Laan, K. Kisand, A. Merits, H. S. Scott and P. Peterson. "Modulation of Aire regulates the expression of tissue-restricted antigens." Molecular Immunology 45: 25-33. (2008)

Michaud, J., K. M. Simpson, R. Escher, K. Buchet-Poyau, T. Beissbarth, C. Carmichael, M. E. Ritchie, F. Schutz, P. Cannon, M. Liu, X. Shen, Y. Ito, W. H. Raskind, M. S. Horwitz, M. Osato, D. R. Turner, T. P. Speed, M. Kavallaris, G. K. Smyth and H. S. Scott. "Integrative analysis of RUNX1 downstream pathways and target genes." Bmc Genomics 9: (2008)

Pitt, L. A., F. X. Hubert, H. S. Scott, D. I. Godfrey and S. P. Berzins. "NKT cell development in the absence of the autoimmune regulator gene (Aire)." European Journal of Immunology 38: 2689-2696. (2008)

Schaller, C. E., C. L. Wang, G. Beck-Engeser, L. Goss, H. S. Scott, M. S. Anderson and M. Wabl. "Expression of Aire and the early wave of apoptosis in spermatogenesis." Journal of Immunology 180: 1338-1343. (2008)

Seach, N., T. Ueno, A. L. Fletcher, T. Lowen, M. Mattesich, C. R. Engwerda, H. S. Scott, C. F. Ware, A. P. Chidgey, D. H. D. Gray and R. L. Boyd. "The lymphotoxin pathway regulates Aire-independent expression of ectopic genes and chemokines in thymic stromal cells." Journal of Immunology 180: 5384-5392. (2008)

White, A. J., D. R. Withers, S. M. Parnell, H. S. Scott, D. Finke, P. J. L. Lane, E. J. Jenkinson and G. Anderson. "Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input." European Journal of Immunology 38: 942-947. (2008)

Chong, S. Y., N. Vickaryous, A. Ashe, N. Zamudio, N. Youngson, S. Hemley, T. Stopka, A. Skoultchi, J. Matthews, H. S. Scott, D. de Kretser, M. O'Bryan, M. Blewitt and E. Whitelaw. "Modifiers of epigenetic reprogramming show paternal effects in the mouse." Nature Genetics 39: 614-622. (2007)

Escher, R., P. Wilson, C. Carmichael, R. Suppiah, M. Liu, M. Kavallaris, P. Cannon, J. Michaud and H. S. Scott. "A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12 : 21) positive pre-B acute lymphoblastic leukemia." Blood Cells Molecules and Diseases 39: 107-114. (2007)

Guipponi, M., J. Tan, P. Z. F. Cannon, L. Donley, P. Crewther, M. Clarke, Q. Y. Wu, R. K. Shepherd and H. S. Scott. "Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss." American Journal of Pathology 171: 608-616. (2007)

Hamazaki, Y., H. Fujita, T. Kobayashi, Y. Choi, H. S. Scott, M. Matsumoto and N. Minato. "Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin." Nature Immunology 8: 304-311. (2007)

Hewitt, C. A., C. L. Carmichael, E. J. Wilkins, P. Z. F. Cannon, M. A. Pritchard and H. S. Scott. "Multiplex ligation-dependent probe amplification (MLPA) genotyping assay for mouse models of down syndrome." Frontiers in Bioscience 12: 3010-3016. (2007)

Rossi, S. W., A. P. Chidgey, S. M. Parnell, W. E. Jenkinson, H. S. Scott, R. L. Boyd, E. J. Jenkinson and G. Anderson. "Redefining epithelial progenitor potential in the developing thymus." European Journal of Immunology 37: 2411-2418. (2007)

Rossi, S. W., M. Y. Kim, A. Leibbrandt, S. M. Parnell, W. E. Jenkinson, S. H. Glanville, F. M. McConnell, H. S. Scott, J. M. Penninger, E. J. Jenkinson, P. J. L. Lane and G. Anderson. "RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla." Journal of Experimental Medicine 204: 1267-1272. (2007)

Scarpino, S., A. Di Napoli, A. Stoppacciaro, M. Antonelli, E. Pilozzi, R. Chiarle, G. Palestro, M. Marino, F. Facciolo, E. A. Rendina, K. E. Webster, S. A. Kinkel, H. S. Scott and L. Ruco. "Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas." Clinical and Experimental Immunology 149: 504-512. (2007)

Brown, A. L., C. R. Wilkinson, S. R. Waterman, C. H. Kok, D. G. Salerno, S. M. Diakiw, B. Reynolds, H. S. Scott, A. Tsykin, G. F. Glonek, G. J. Goodall, P. J. Solomon, T. J. Gonda and R. J. D'Andrea. "Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling." Journal of Leukocyte Biology 80: 433-447. (2006)

George, A. J., R. M. D. Holsinger, C. A. McLean, S. S. Tan, H. S. Scott, T. Cardamone, R. Cappai, C. L. Masters and Q. X. Li. "Decreased phosphatidylethanolamine binding protein expression correlates with A beta accumulation in the Tg2576 mouse model of Alzheimer's disease." Neurobiology of Aging 27: 614-623. (2006)

Sang, Q., M. H. Kim, S. Kumar, N. Bye, M. C. Morganti-Kossman, J. Gunnersen, S. Fuller, J. Howitt, L. Hyde, T. Beissbarth, H. S. Scott, J. Silke and S. S. Tan. "Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury." Journal of Neuroscience 26: 7234-7244. (2006)

Stevenson, W. S., R. Hoyt, A. Bell, M. Guipponi, S. Juneja, A. P. Grigg, D. J. Curtis, H. S. Scott, J. Szer, W. S. Alexander, A. Tuckfield and A. W. Roberts. "Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: Implications for mutation detection in peripheral blood." Pathology 38: 336-342. (2006)

Brodnicki, T. C., A. L. Fletcher, D. G. Pellicci, S. P. Berzins, P. McClive, F. Quirk, K. E. Webster, H. S. Scott, R. L. Boyd, D. I. Godfrey and G. Morahan. "Localization of Idd11 is not associated with thymus and NKT cell abnormalities in NOD mice." Diabetes 54: 3453-3457. (2005)

Guipponi, M., S. Herbert, M. Y. Toh, K. Poetter, S. Forrest and H. S. Scott. "Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput." Biotechniques 39: 34-+. (2005)

Smyth, G. K., J. Michaud and H. S. Scott. "Use of within-array replicate spots for assessing differential expression in microarray experiments." Bioinformatics 21: 2067-2075. (2005)

Webster, K. E., M. K. O'Bryan, S. Fletcher, P. E. Crewther, U. Aapola, J. Craig, D. K. Harrison, H. Aung, N. Phutikanit, R. Lyle, S. J. Meachem, S. E. Antonarakis, D. M. de Krester, M. P. Hedger, P. Peterson, B. J. Carroll and H. S. Scott. "Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis." Proceedings of the National Academy of Sciences of the United States of America 102: 4068-4073. (2005)

Beissbarth, T., L. Hyde, G. K. Smyth, C. Job, W. M. Boon, S. S. Tan, H. S. Scott and T. P. Speed. "Statistical modeling of sequencing errors in SAGE libraries." Bioinformatics-Oxford 20: 31-39. (2004)

Boon, W. M., T. Beissbarth, L. Hyde, G. Smyth, J. Gunnersen, D. A. Denton, H. Scott and S. S. Tan. "A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering." Proceedings of the National Academy of Sciences of the United States of America 101: 14972-14977. (2004)

Escher, R., F. Hagos, J. Michaud, L. Sveen, M. Horwitz, O. I. Olopade and H. S. Scott. "No evidence for core-binding factor CBF beta as a leukemia predisposing factor in chromosome 16q22-linked familial AML." Leukemia 18: 881-881. (2004)

Escher, R., A. Jones, F. Hagos, C. Carmichael, M. Horwitz, O. I. Olopade and H. S. Scott. "Chromosome band 16q22-linked familial AML: Exclusion of candidate genes, and possible disease risk modification by NQOI polymorphisms." Genes Chromosomes & Cancer 41: 278-282. (2004)

Escher, R., D. Mühlematter, H. S. Scott, M. Jotterand and A. Tobler. "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 89: ECR26. (2004)

Koukoulas, I., C. Augustine, N. Silkenbeumer, J. M. Gunnersen, H. S. Scott and S. S. Tan. "Genomic organisation and nervous system expression of radial spoke protein 3." Gene 336: 15-23. (2004)

Liston, A., D. H. D. Gray, S. Lesage, A. L. Fletcher, J. Wilson, K. E. Webster, H. S. Scott, R. L. Boyd, L. Peltonen and C. C. Goodnow. "Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity." Journal of Experimental Medicine 200: 1015-1026. (2004)

Menzel, O., R. C. J. Bekkeheien, A. Reymond, N. Fukai, E. Boye, G. Kosztolanyi, S. Aftimos, S. Deutsch, H. S. Scott, B. R. Olsen, S. E. Antonarakis and M. Guipponi. "Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin." Human Mutation 23: 77-84. (2004)

Blackshaw, S., W. P. Kuo, P. J. Park, M. Tsujikawa, J. M. Gunnersen, H. S. Scott, W. M. Boon, S. S. Tan and C. L. Cepko. "MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues." Genome Biology 4: R17. (2003)

Friedli, M., M. Guipponi, S. Bertrand, D. Bertrand, M. Neerman-Arbez, H. S. Scott, S. E. Antonarakis and A. Reymond. "Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12." Gene 320: 31-40. (2003)

Wang, C. Y., J. D. Shi, P. Yang, P. G. Kumar, Q. Z. Li, Q. G. Run, Y. C. Su, H. S. Scott, K. J. Kao and J. X. She. "Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP)." Gene 306: 37-44. (2003)

Guipponi, M., G. Vuagniaux, M. Wattenhofer, K. Shibuya, M. Vazquez, L. Dougherty, N. Scamuffa, E. Guida, M. Okui, C. Rossier, M. Hancock, K. Buchet, A. Reymond, E. Hummler, P. L. Marzella, J. Kudoh, N. Shimizu, H. S. Scott, S. E. Antonarakis and B. C. Rossier. "The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro." Human Molecular Genetics 11: 2829-2836. (2002)

Michaud, J., F. Wu, M. Osato, G. M. Cotties, M. Yanagida, N. Asou, K. Shigesada, Y. Ito, K. F. Benson, W. H. Raskind, C. Rossier, S. E. Antonarakis, S. Israels, A. McNicol, H. Weiss, M. Horwitz and H. S. Scott. "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 99: 1364-1372. (2002)

Wattenhofer, M., M. V. Di Iorio, R. Rabionet, L. Dougherty, A. Pampanos, T. Schwede, B. Montserrat-Sentis, M. L. Arbones, T. Iliades, A. Pasquadibisceglie, M. D'Amelio, S. Alwan, C. Rossier, H. H. M. Dahl, M. B. Petersen, X. Estivill, P. Gasparini, H. S. Scott and S. E. Antonarakis. "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients." Journal of Molecular Medicine-Jmm 80: 124-131. (2002)

Bartoloni, L., J. L. Blouin, A. K. Maiti, A. Sainsbury, C. Rossier, C. Gehrig, J. X. She, M. P. Marron, E. S. Lander, M. Meeks, E. Chung, M. Armengot, M. Jorissen, H. S. Scott, C. D. Delozier-Blanchet, R. M. Gardiner and S. E. Antonarakis. "Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia." Genomics 72: 21-33. (2001)

Ben-Yosef, T., M. Wattenhofer, S. Riazuddin, Z. M. Ahmed, H. S. Scot, J. Kudoh, K. Shibuya, S. E. Antonarakis, B. Bonne-Tamir, U. Radhakrishna, S. Naz, Z. Ahmed, A. Pandya, W. E. Nance, E. R. Wilcox, T. B. Friedman and R. J. Morell. "Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness." Journal of Medical Genetics 38: 396-400. (2001)

Deutsch, S., C. Iseli, P. Bucher, S. E. Antonarakis and H. S. Scott. "A cSNP map and database for human chromosome 21." Genome Research 11: 300-307. (2001)

Masmoudi, S., S. E. Antonarakis, T. Schwede, A. M. Ghorbel, M. Gratri, M. P. Pappasavas, M. Drira, A. Elgaied-Boutila, M. Wattenhofer, C. Rossier, H. S. Scott, H. Ayadi and M. Guipponi. "Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness." Human Mutation 18: 101-108. (2001)

Scott, H. S., J. Kudoh, M. Wattenhofer, K. Shibuya, A. Berry, R. Chrast, M. Guipponi, J. Wang, K. Kawasaki, S. Asakawa, S. Minoshima, F. Younus, S. Q. Mehdi, U. Radhakrishna, M. P. Papasavvas, C. Gehrig, C. Rossier, M. Korostishevsky, A. Gal, N. Shimizu, B. Bonne-Tamir and S. E. Antonarakis. "Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness." Nature Genetics 27: 59-63. (2001)

Wattenhofer, M., K. Shibuya, J. Kudoh, R. Lyle, J. Michaud, C. Rossier, K. Kawasaki, S. Asakawa, S. Minoshima, A. Berry, B. Bonne-Tamir, N. Shimizu, S. E. Antonarakis and H. S. Scott. "Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains." Human Genetics 108: 140-147. (2001)

Aapola, U., K. Shibuya, H. S. Scott, J. Ollila, M. Vihinen, M. Heino, A. Shintani, K. Kawasaki, S. Minoshima, K. Krohn, S. E. Antonarakis, N. Shimizu, J. Kudoh and P. Peterson. "Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family." Genomics 65: 293-298. (2000)

Bartoloni, L., M. Wattenhofer, J. Kudoh, A. Berry, K. Shibuya, K. Kawasaki, J. Wang, S. Asakawa, I. Talior, B. Bonne-Tamir, C. Rossier, J. Michaud, E. R. B. McCabe, S. Minoshima, N. Shimizu, H. S. Scott and S. E. Antonarakis. "Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency." Genomics 70: 190-200. (2000)

Berry, A., H. S. Scott, J. Kudoh, I. Talior, M. Korostishevsky, M. Wattenhofer, M. Guipponi, C. Barras, C. Rossier, K. Shibuya, J. Wang, K. Kawasaki, S. Asakawa, S. Minoshima, N. Shimizu, S. Antonarakis and B. Bonne-Tamir. "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 68: 22-29. (2000)

Chrast, R., H. S. Scott, R. Madani, L. Huber, D. P. Wolfer, M. Prinz, A. Aguzzi, H. P. Lipp and S. E. Antonarakis. "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." Human Molecular Genetics 9: 1853-1864. (2000)

Chrast, R., H. S. Scott, M. P. Papasavvas, C. Rossier, E. S. Antonarakis, C. Barras, M. T. Davisson, C. Schmidt, X. Estivill, M. Dierssen, M. Pritchard and S. E. Antonarakis. "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 Research 10: 2006-2021. (2000)

Guipponi, M., K. Brunschwig, Z. Chamoun, H. S. Scott, K. Shibuya, J. Kudoh, A. L. Delezoide, S. El Samadi, Z. Chettouh, C. Rossier, N. Shimizu, F. Mueller, J. M. Delabar and S. E. Antonarakis. "C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning." Genomics 68: 30-40. (2000)

Heino, M., P. Peterson, N. Sillanpaa, S. Guerin, L. Wu, G. Anderson, H. S. Scott, S. E. Antonarakis, J. Kudoh, N. Shimizu, E. J. Jenkinson, P. Naquet and K. J. E. Krohn. "RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse." European Journal of Immunology 30: 1884-1893. (2000)

Michaud, J., J. Kudoh, A. Berry, B. Bonne-Tamir, M. D. Lalioti, C. Rossier, K. Shibuya, K. Kawasaki, S. Asakawa, S. Minoshima, N. Shimizu, S. E. Antonarakis and H. S. Scott. "Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein." Genomics 68: 71-79. (2000)

Pitkanen, J., V. Doucas, T. Sternsdorf, T. Nakajima, S. Aratani, K. Jensen, H. Will, P. Vahamurto, J. Ollila, M. Vihinen, H. S. Scott, S. E. Antonarakis, J. Kudoh, N. Shimizu, K. Krohn and P. Peterson. "The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein." Journal of Biological Chemistry 275: 16802-16809. (2000)

Chen, H. M., C. Rossier, M. A. Morris, H. S. Scott, A. Gos, A. Bairoch and S. E. Antonarakis. "A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y." Human Genetics 105: 399-409. (1999)

Chrast, R., H. S. Scott and S. E. Antonarakis. "Linearization and purification of BAC DNA for the development of transgenic mice." Transgenic Research 8: 147-150. (1999)

Heino, M., P. Peterson, J. Kudoh, K. Nagamine, A. Lagerstedt, V. Ovod, A. Ranki, I. Rantala, M. Nieminen, J. Tuukkanen, H. S. Scott, S. E. Antonarakis, N. Shimizu and K. Krohn. "Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla." Biochemical and Biophysical Research Communications 257: 821-825. (1999)

Heino, M., H. S. Scott, Q. Y. Chen, P. Peterson, U. Maenpaa, M. P. Papasavvas, L. Mittaz, C. Barras, C. Rossier, G. P. Chrousos, C. A. Stratakis, K. Nagamine, J. Kudoh, N. Shimizu, N. Maclaren, S. E. Antonarakis and K. Krohn. "Mutation analyses of North American APS-1 patients." Human Mutation 13: 69-74. (1999)

Lalioti, M. D., H. S. Scott and S. E. Antonarakis. "Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1." Human Molecular Genetics 8: 1791-1798. (1999)

Mittaz, L., C. Rossier, M. Heino, P. Peterson, K. J. E. Krohn, A. Gos, M. A. Morris, J. Kudoh, N. Shimizu, S. E. Antonarakis and H. S. Scott. "Isolation and characterization of the mouse Aire gene." Biochemical and Biophysical Research Communications 255: 483-490. (1999)

Radhakrishna, U., D. Bornholdt, H. S. Scott, U. C. Patel, C. Rossier, H. Engel, A. Bottani, D. Chandal, J. L. Blouin, J. V. Solanki, K. H. Grzeschik and S. E. Antonarakis. "The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations." American Journal of Human Genetics 65: 645-655. (1999)

Roessler, E., L. Mittaz, Y. Z. Du, H. S. Scott, J. Chang, C. Rossier, M. Guipponi, S. P. T. Matsuda, M. Muenke and S. E. Antonarakis. "Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)." Human Genetics 105: 489-495. (1999)

Guipponi, M., H. S. Scott, H. Chen, A. Schebesta, C. Rossier and S. E. Antonarakis. "Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon." Genomics 53: 369-376. (1998)

Guipponi, M., H. S. Scott, M. Hattori, K. Ishii, Y. Sakaki and S. E. Antonarakis. "Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1 -> q22.2." Cytogenetics and Cell Genetics 83: 218-220. (1998)

Guipponi, M., H. S. Scott, J. Kudoh, K. Kawasaki, K. Shibuya, A. Shintani, S. Asakawa, H. M. Chen, M. D. Lalioti, C. Rossier, S. Minoshima, N. Shimizu and S. E. Antonarakis. "Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence." Human Genetics 103: 386-392. (1998)

Lalioti, M. D., H. S. Scott, P. Genton, D. Grid, R. Ouazzani, A. M'Rabet, S. Ibrahim, R. Gouider, C. Dravet, T. Chkili, A. Bottani, C. Buresi, A. Malafosse and S. E. Antonarakis. "A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset." American Journal of Human Genetics 62: 842-847. (1998)

Lapenta, V., V. Sossi, P. Gosset, C. Vayssettes, T. Vitali, N. Rabatel, F. Tassone, J. L. Blouin, H. S. Scott, S. E. Antonarakis, N. Creau and C. Brahe. "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3." Genomics 49: 1-13. (1998)

Mehenni, H., C. Gehrig, J. Nezu, A. Oku, M. Shimane, C. Rossier, N. Guex, J. L. Blouin, H. S. Scott and S. E. Antonarakis. "Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity." American Journal of Human Genetics 63: 1641-1650. (1998)

Rosatelli, M. C., A. Meloni, M. Devoto, A. Cao, H. S. Scott, P. Peterson, M. Heino, K. J. E. Krohn, K. Nagamine, J. Kudoh, N. Shimizu and S. E. Antonarakis. "A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients." Human Genetics 103: 428-434. (1998)

Scott, H. S., S. E. Antonarakis, M. D. Lalioti, C. Rossier, P. A. Silver and M. F. Henry. "Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)." Genomics 48: 330-340. (1998)

Scott, H. S., M. Heino, P. Peterson, L. Mittaz, M. D. Lalioti, C. Betterle, A. Cohen, M. Seri, M. Lerone, G. Romeo, P. Collin, M. Salo, R. Metcalfe, A. Weetman, M. P. Papasavvas, C. Rossier, K. Nagamine, J. Kudoh, N. Shimizu, K. J. E. Krohn and S. E. Antonarakis. "Common mutations in autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy patients of different origins." Molecular Endocrinology 12: 1112-1119. (1998)

Scott, H. S., D. S. Kyriakou, P. Peterson, M. Heino, M. Tahtinen, K. Krohn, H. M. Chen, C. Rossier, M. D. Lalioti and S. E. Antonarakis. "Characterization of a novel gene, C21orf2, an human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis." Genomics 47: 64-70. (1998)

Blanch, L., B. Weber, X. H. Guo, H. S. Scott and J. J. Hopwood. "Molecular defects in Sanfilippo syndrome type A." Human Molecular Genetics 6: 787-791. (1997)

Chicheportiche, Y., P. R. Bourdon, H. D. Xu, Y. M. Hsu, H. Scott, C. Hession, I. Garcia and J. L. Browning. "TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis." Journal of Biological Chemistry 272: 32401-32410. (1997)

Chrast, R., H. S. Scott, H. M. Chen, J. Kudoh, C. Rossier, S. Minoshima, Y. M. Wang, N. Shimizu and S. E. Antonarakis. "Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the down syndrome chromosomal region." Genome Research 7: 615-624. (1997)

Gatti, R., P. DiNatale, G. R. D. Villani, M. Filocamo, V. Muller, X. H. Guo, P. V. Nelson, H. S. Scott and J. J. Hopwood. "Mutations among Italian mucopolysaccharidosis type I patients." Journal of Inherited Metabolic Disease 20: 803-806. (1997)

Krohn, K., V. Ovod, P. Vilja, M. Heino, H. Scott, D. S. Kyriakou, S. Antonarakis, H. T. Jacobs, J. Isola and P. Peterson. "Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3." Biochemical and Biophysical Research Communications 238: 806-810. (1997)

Lalioti, M. D., H. S. Scott and S. E. Antonarakis. "What is expanded in progressive myoclonus epilepsy?" Nature Genetics 17: 17-17. (1997)

Lalioti, M. D., H. S. Scott, C. Buresi, C. Rossier, A. Bottani, M. A. Morris, A. Malafosse and S. E. Antonarakis. "Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy." Nature 386: 847-851. (1997)

Mittaz, L., S. E. Antonarakis, M. Higuchi and H. S. Scott. "Localization of a novel human RNA-editing deaminase (hRED2, or ADARB2) to chromosome 10p15." Human Genetics 100: 398-400. (1997)

Mittaz, L., H. S. Scott, C. Rossier, P. H. Seeburg, M. Higuchi and S. E. Antonarakis. "Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3." Genomics 41: 210-217. (1997)

Nagamine, K., P. Peterson, H. S. Scott, J. Kudoh, S. Minoshima, M. Heino, K. J. E. Krohn, M. D. Lalioti, P. E. Mullis, S. E. Antonarakis, K. Kawasaki, S. Asakawa, F. Ito and N. Shimizu. "Positional cloning of the APECED gene." Nature Genetics 17: 393-398. (1997)

Scott, H. S., H. M. Chen, C. Rossier, M. D. Lalioti and S. E. Antonarakis. "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q122.3." Human Genetics 99: 616-623. (1997)

Karageorgos, L. E., X.-H. Guo, L. Blanch, B. Weber, D. S. Anson, H. S. Scott and J. J. Hopwood. "Structure and Sequence of the Human Sulphamidase Gene." DNA Res 3: 269-271. (1996)

Weber, B., L. Blanch, P. R. Clements, H. S. Scott and J. J. Hopwood. "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)." Human Molecular Genetics 5: 771-777. (1996)

Scott, H. S., L. Blanch, X. H. Guo, C. Freeman, A. Orsborn, E. Baker, G. R. Sutherland, C. P. Morris and J. J. Hopwood. "CLONING OF THE SULFAMIDASE GENE AND IDENTIFICATION OF MUTATIONS IN SANFILIPPO-A-SYNDROME." Nature Genetics 11: 465-467. (1995)

Bunge, S., W. J. Kleijer, C. Steglich, M. Beck, C. Zuther, C. P. Morris, E. Schwinger, J. J. Hopwood, H. S. Scott and A. Gal. "MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 8 NOVEL MUTATIONS AND DETERMINATION OF THE FREQUENCY OF THE 2 COMMON ALPHA-1-IDURONIDASE MUTATIONS (W402X AND Q70X) AMONG EUROPEAN PATIENTS." Human Molecular Genetics 3: 861-866. (1994)

Clarke, L. A., P. V. Nelson, C. L. Warrington, C. P. Morris, J. J. Hopwood and H. S. Scott. "MUTATION ANALYSIS OF 19 NORTH-AMERICAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS - IDENTIFICATION OF 2 ADDITIONAL FREQUENT MUTATIONS." Human Mutation 3: 275-282. (1994)

Morris, C. P., X. H. Guo, S. Apostolou, J. J. Hopwood and H. S. Scott. "MORQUIO-A-SYNDROME - CLONING, SEQUENCE, AND STRUCTURE OF THE HUMAN N-ACETYLGALACTOSAMINE 6-SULFATASE (GALNS) GENE." Genomics 22: 652-654. (1994)

Clarke, L. A. and H. S. Scott. "2 NOVEL MUTATIONS CAUSING MUCOPOLYSACCHARIDOSIS TYPE-1 DETECTED BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS OF THE ALPHA-L-IDURONIDASE GENE." Human Molecular Genetics 2: 1311-1312. (1993)

Hopwood, J. J., A. Vellodi, H. S. Scott, C. P. Morris, T. Litjens, P. R. Clements, D. A. Brooks, A. Cooper and J. E. Wraith. "LONG-TERM CLINICAL-PROGRESS IN BONE-MARROW TRANSPLANTED MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS WITH A DEFINED GENOTYPE." Journal of Inherited Metabolic Disease 16: 1024-1033. (1993)

Scott, H. S., T. Litjens, P. V. Nelson, P. R. Thompson, D. A. Brooks, J. J. Hopwood and C. P. Morris. "IDENTIFICATION OF MUTATIONS IN THE ALPHA-L-IDURONIDASE GENE (IDUA) THAT CAUSE HURLER AND SCHEIE SYNDROMES." American Journal of Human Genetics 53: 973-986. (1993)

Scott, H. S., P. V. Nelson, T. Litjens, J. J. Hopwood and C. P. Morris. "MULTIPLE POLYMORPHISMS WITHIN THE ALPHA-L-IDURONIDASE GENE (IDUA) - IMPLICATIONS FOR A ROLE IN MODIFICATION OF MPS-I DISEASE PHENOTYPE." Human Molecular Genetics 2: 1471-1473. (1993)

Koizumi, T., M. Macdonald, M. Bucan, J. J. Hopwood, C. P. Morris, H. S. Scott, J. F. Gusella and J. H. Nadeau. "LINKAGE, BUT NOT GENE ORDER, OF HOMOLOGOUS LOCI, INCLUDING ALPHA-L-IDURONIDASE (IDUA), IS CONSERVED IN THE HUNTINGTON DISEASE REGION OF THE MOUSE AND HUMAN GENOMES." Mammalian Genome 3: 23-27. (1992)

Scott, H. S., X. H. Guo, J. J. Hopwood and C. P. Morris. "STRUCTURE AND SEQUENCE OF THE HUMAN ALPHA-L-IDURONIDASE GENE." Genomics 13: 1311-1313. (1992)

Scott, H. S., T. Litjens, J. J. Hopwood and C. P. Morris. "PCR DETECTION OF 2 RFLPS IN EXON-I OF THE ALPHA-L-IDURONIDASE (IDUA) GENE." Human Genetics 90: 327-327. (1992)

Scott, H. S., T. Litjens, J. J. Hopwood and C. P. Morris. "A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype." Human Mutation 1: 103-108. (1992)

Scott, H. S., T. Litjens, P. V. Nelson, D. A. Brooks, J. J. Hopwood and C. P. Morris. "alpha-L-iduronidase mutations Q70X and P533R associate with a severe Hurler phenotype." Human Mutation 1: 333-339. (1992)

Scott, H. S., P. V. Nelson, A. Cooper, J. E. Wraith, J. J. Hopwood and C. P. Morris. "MUCOPOLYSACCHARIDOSIS TYPE-I (HURLER SYNDROME) - LINKAGE DISEQUILIBRIUM INDICATES THE PRESENCE OF A MAJOR ALLELE." Human Genetics 88: 701-702. (1992)

Scott, H. S., P. V. Nelson, M. E. Macdonald, J. F. Gusella, J. J. Hopwood and C. P. Morris. "AN 86-BP VNTR WITHIN IDUA IS THE BASIS OF THE D4S111 POLYMORPHIC LOCUS." Genomics 14: 1118-1120. (1992)

Macdonald, M. E., H. S. Scott, W. L. Whaley, T. Pohl, J. J. Wasmuth, H. Lehrach, C. P. Morris, A. M. Frischauf, J. J. Hopwood and J. F. Gusella. "HUNTINGTON DISEASE-LINKED LOCUS D4S111 EXPOSED AS THE ALPHA-L-IDURONIDASE GENE." Somatic Cell and Molecular Genetics 17: 421-425. (1991)

Scott, H. S., D. S. Anson, A. M. Orsborn, P. V. Nelson, P. R. Clements, C. P. Morris and J. J. Hopwood. "HUMAN ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION." Proceedings of the National Academy of Sciences of the United States of America 88: 9695-9699. (1991)

Scott, H. S., P. V. Nelson, J. J. Hopwood and C. P. Morris. "PCR OF A KPNI RFLP IN THE ALPHA-L-IDURONIDASE (IDUA) GENE." Nucleic Acids Research 19: 5796-5796. (1991)

Scott, H. S., P. V. Nelson, J. J. Hopwood and C. P. Morris. "PCR OF A VNTR LINKED TO MUCOPOLYSACCHARIDOSIS TYPE-I AND HUNTINGTON DISEASE." Nucleic Acids Research 19: 6348-6348. (1991)

Scott, H. S., L. J. Ashton, H. J. Eyre, E. Baker, D. A. Brooks, D. F. Callen, G. R. Sutherland, C. P. Morris and J. J. Hopwood. "CHROMOSOMAL LOCALIZATION OF THE HUMAN ALPHA-L-IDURONIDASE GENE (IDUA) TO 4P16.3." American Journal of Human Genetics 47: 802-807. (1990)

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Reviews

Guipponi, M., S. E. Antonarakis and H. S. Scott. "Tmprss3, a type ii transmembrane serine protease mutated in non-syndromic autosomal recessive deafness." FRONTIERS IN BIOSCIENCE 13: 1557-1567. (2008)

Lalioti, M. D., S. E. Antonarakis and H. S. Scott. "The epilepsy, the protease inhibitor and the dodecamer: Progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion." CYTOGENETIC AND GENOME RESEARCH 100: 213-223. (2003)

Michaud, J., H. S. Scott and R. Escher. "Aml1 interconnected pathways of leukemogenesis." CANCER INVESTIGATION 21: 105-136. (2003)

Antonarakis, S. E., R. Lyle, R. Chrast and e. al. "Differential gene expression studies to explore the molecular pathophysiology of down syndrome." BRAIN RESEARCH REVIEWS 36: 265-274. (2001)

Heino, M., P. Peterson, J. Kudoh and e. al. "Apeced mutations in the autoimmune regulator (aire) gene." HUMAN MUTATION 18: 205-211. (2001)

Peterson, P., K. Nagamine, H. Scott and e. al. "Apeced: A monogenic autoimmune disease providing new clues to self-tolerance." IMMUNOLOGY TODAY 19: 384-386. (1998)

Scott, H. S., S. Bunge, A. Gal and e. al. "Molecular-genetics of mucopolysaccharidosis type .1. Diagnostic, clinical, and biological implications." HUMAN MUTATION 6: 288-302. (1995)

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Book Chapters

Kinkel, S. A. and H. S. Scott. Lessons from DNMT3L dependent methylation during gametogenesis. Epigenetics: A Reference Manual. Craig, J. and Wong, N. London, Horizon Scientific Press and Caister Academic Press. http://www.horizonpress.com/epigenetics: 255-270.(2011)

Lalioti, M. D., S. E. Antonarakis and H. S. Scott. Dodecamer repeat expansion in Progressive Myoclonus Epilepsy 1 (EPM1). Human Nucleotide Expansion Disorders Fry, M. and Usdin, K. Heidelberg, Springer-Verlag. 19: 121-141.(2006)

Antonarakis, S. E. and H. S. Scott. TMPRSS3, a transmembrane protease mutated in congenital and childhood onset autosomal recessive deafness (DFNB10/DFNB8). Genetic Hearing Loss. Willems, P. New York, Marcel Dekker, Inc. . 26: 401-416.(2003)

Scott, H. S. and R. Chrast. Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE). Genetic Engineering, Principles and Methods. Setlow, J. K. New York, Kluwer Academic/Plenum press. 23: 201-219.(2001)

Scott, H. S., S. E. Antonarakis, L. Mittaz, M. D. Lalioti, F. Younus, A. Mohyuddin, S. Q. Mehdi and A. Gald. "Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22. 3." Genetics in otorhinolaryngology 56: 158-163. (2000)

Scott, H. S. and S. E. Antonarakis. The "genomics" of chromosome 21 and Down syndrome. Genetics and Cardiopathies. Schumacher, G. Stuttgart, Wissenschaftliche Verlagsgesellschaft: 164-179.(1998)

Antonarakis, S. E. and H. S. Scott. "The human genome project and its impact in medicine." European Review 4: 415-426. (1996)

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Other publications

Hahn, C. N. and H. S. Scott. "Spliceosome mutations in hematopoietic malignancies." Nat Genet 44: 9-10. (2012)

Scott, H. S. "One of the Reasons Why Humans, and not Sponges or Worms, get Psychiatric Disorders?" Human Mutation 31: v. (2010)

Scott, H. S. "Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know?" Human Mutation 30: vii. (2009)

Ling, K. H., C. A. Hewitt, S. G.K., S. A. Kinkel and H. S. Scott. "High-throughput and complex gene expression validation using the Universal ProbeLibrary and the LightCycler® 480 system." Biochemica 2008(2): 23-26. (2008)

Carmichael, C. and H. Scott. "Familial aspects of haematological malignancy." Cancer Forum 31: 160-164. (2007)

Antonarakis, S. E., A. Reymond, O. Menzel, R. C. Bekkeheien, N. Fukai, E. Boye, G. Kosztolanyi, S. Aftimos, D. S., H. S. Scott, B. R. Olsen and M. Guipponi. "How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? Reply." HUMAN MUTATION 25: 316. (2005)

Scott, H. S. "Technophiles seek genomic imperfections with the Greek gods at Atlantis." NATURE GENETICS 37: 1019-1021. (2005)

Heath, W. R. and H. S. Scott. "Immunology - Education and promiscuity." NATURE 420: 468-469. (2002)

Hyde, L., S. S. Tan and H. S. Scott. "Traversing the transcriptome." Today’s Life Science 14: 30-34. (2002)

Scott, H. S. and S. S. Tan. "Nervous system development and neurodegeneration in Mice. ." Today’s Life Science 13: 36-37. (2001)

Scott, H. "What transcripts are found in a human cell?" Genome Biology 1: reports031. (2000)

White, J. A., P. J. McAlpine, S. Antonarakis and e. al. "Guidelines for human gene nomenclature (1997)." GENOMICS 45: 468-471. (1997)