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  • 1. CURRICULUM VITAE KÁRI STEFÁNSSON Place of Birth: Reykjavik, Iceland Date of Birth: April 6, 1949 EDUCATION: 1970 Matriculation, The College of Reykjavik, Reykjavik, Iceland 1976 M.D., University of Iceland Medical School, Reykjavik, Iceland PROFESSIONAL AND RESEARCH EXPERIENCE: 1976-1977 Intern, National Hospital of Iceland (University of Iceland), Reykjavik, Iceland. 1977-1978 Resident, Department of Neurology, University of Chicago. 1979-1980 Research Associate, Department of Neurology, University of Chicago. 1980-1982 Resident in Neuropathology (Department of Pathology and Neurology), University of Chicago. 1982-1983 Advanced Clinical Fellow in Neurology and Neuropathology, Department of Neurology, University of Chicago. 1983-1986 Assistant Professor, Departments of Neurology and Pathology (Neuropathology), and a member of the Committees on Immunology and Neurobiology, University of Chicago. 1986-1991 Associate Professor, Departments of Neurology and Pathology (Neuropathology) and a member of the Committees on Immunology and Neurobiology, University of Chicago. 1991-1993 Professor, Departments of Neurology and Pathology (Neuropathology) and a member of the Committees on Immunology and Neurobiology, University of Chicago. 1993-1997 Professor of Neurology, Neuropathology and Neuroscience, Harvard Medical School and Chief, Division of Neuropathology, Departments of Neurology and Pathology, Beth Israel Hospital, Boston. 1996- President, CEO, and Director of deCODE genetics, Reykjavik, Iceland
  • 2. BOARD CERTIFICATION: American Board of Psychiatry and Neurology (Neurology) American Board of Pathology (Neuropathology) Certification in Neurology in Iceland Certification in Neuropathology in Iceland PROFESSIONAL American Neurological Association ORGANIZATIONS: Association of American Neuropathologists American Association for the Advancement of Science American Society of Human Genetics European Molecular Biology Organization HONORS and Honorable Engagements: One of the top ten entrepreneurs of the year, Red Herring Magazine 1997 Founding Fellow of the Biotechnology Center at New York University School of Medicine Technology Pioneer of the World Economic Forum 2000 Chosen by BusinessWeek as one of the stars of Europe in 2000, they included 50 leaders at the forefront of change The Abraham Ribikoff Lecture in the Department of Psychiatry, Yale University 1999 Member of the European Molecular Biology Organization (2005) Chosen by Time magazine as one of the 100 most influential men of the year for 2007 (Time100 list for 2007) Chosen 2007 by Newsweek as one of the 10 most important biologists of the 21 century The World Glaucoma Association Award, 2007 for present scientific impact Jakobus Award 2007 Karl Landsteiner lecture 2008 Keynote lecture at The Genomics of Common diseases (Nature Genetics and the Wellcome Trust) 2008 Noble Forum Lecture at the Karolinska Institute 2009 Anders Jahre Award 2009 Neurology Grand Rounds at the Massachustets General Hospital October 2009 Neurology Grand Rounds at the Longwood Medical Area October 2009 Lecture at the 100 Anniversery Symposium of the Finnish Academy of Science and Letters 2008 The Sackler Lecture at MIT 2009 The European Society of Human Genetics Award 2009
  • 3. PUBLICATIONS Revievs and correspondence 1. Szuchet S, and Stefansson K. In vitro behavior of isolated oligodendrocytes. In: Advances in Cellular Neurobiology. S. Federoff and L. Hertz (eds..) Academic Press, pp. 313-346, 1980. 2. Stefansson K, Antel JP, and Arnason BGW. Neuroimmunology of Aging. In: The Clinical Neurology of Aging, M. Alberd (ed), Oxford University Press, 1982. 3. Stefansson K, and Arnason BGW. Paraneoplastic syndromes of the brain, spinal cord, nerves and the muscle. In: Comprehensive Textbook of Oncology. A.R. Moosa, M.C. Robson and S.C. Schirupff (eds.) Williams and Wilkins Publishers, 1986. 4. Stefansson K, and Arnason BGW. Neurological manifestations of systemic neoplasia. In: Harrison's Principles of Internal Medicine (eds. Petersdorf, Adams, Braunwald, Isselbacher, Martin, Wilson), 11th Edition, 1986. 5. Stefansson K, and Gulcher JR: Neurologic Manifestations of Cancer. In: Clinics In Immunology and allergy. R.A. Goldstein (ed) 8(2):295, 1988. 6. Mikol DD, Szuchet S, Stefansson K. A peanut agglutinin-binding glycoprotein in CNS myelin and oligodendrocytes. Annals NY Academy of Sciences 540:409, 1988. 7. Antel JP, Gurney M, and Stefansson K. Immunological aspects of motor neuron disease (MND), in Amyotorphic lateral sclerosis. T. Tsubaki and Y. Yase (eds.), Elsevier Science Publishers B.V. (Amsterdam) 143:1988. 8. Dieperink ME, and Stefansson K. Sharing of epitopes by the nicotinic acetylcholine receptor and microorganisms; a role in the pathogenesis of myasthenia gravis. Current Topics in Microbiology and Immunology 145:57, 1989. 9. Antel JP, Gurney M, and Stefansson K. Immunologic aspects of motor neuron disease. In: Amyotrophic Lateral Sclerosis: Concepts in Pathogenesis and Etiology, A.J. Hudson (ed) University of Toronto Press, Toronto 1990. 10. Nicholas MK, Chenelle AG, Brown MM, Stefansson K, and Arnason BGW. Prevention of neural allograft rejection in the mouse following in vivo depletion of L8T4+ but not LYT-2+ T lymphocytes. In: Progress in Brain Research 82:161, 1990. 11. Gulcher JR, and Stefansson K. The hexabrachion gene as a candidate for a tuberous sclerosis gene. Annals NY Academy of Science 615:220, 1991.
  • 4. 12. Stefansson K. Tuberous Sclerosis (editorial). The Mayo Clinic Proceedings 66:868, 1991. 13. Gulcher JR, Stefánsson K. Ethics of population genomics research. Nature 400: 307-308 1999. 14. Gulcher J, Stefansson K. Guest Editorial - The Icelandic Healthcare Database: A Tool to Create Knowledge, A Social Debate, and a Bioethical and Privacy Challenge Medscape 2000. 15. Helgason A, Sigurðardóttir S, GulcherJR, Ward R, and Stefánsson K. Sampling saturation and the European mtDNA pool: Implications for detecting genetic relationships among populations. Archaeogenetics: DND and population prehistory of Europe. Edited by Coling Renfrew and Peter Forster 2000. 16. Gulcher JR, Kong A, Stefansson K. The role of linkage studies for common diseases Curr Opin Genet Dev 11(3):264-7 2001 17. Hakonarson H, Gulcher JR, Stefansson K deCODE genetics, Inc Pharmacogenomics 4(2):209-15 2003. 18. Gulcher J, Gretarsdottir S, Kong A, Stefansson K. Reply to "A call for accurate phenotype definition in the study of complex disorders". Nat Genet 36, 3 - 4 2004. 19. Gulcher JR, Gretarsdottir S, Helgadottir A, Stefansson K. Genes contributing to risk for common forms of stroke. Trends Mol Med. May;11(5):217-24. Review 2005. 20. Gulcher JR, Kong A, Gretarsdottir S, Thorleifsson G, Stefansson K. Reply to "Many hypotheses but no replication for the association between PDE4D and stroke". Nat Genet. Oct;38(10):1092-3 2006. 21. Gulcher J, Stefansson K. Positional cloning: complex cardiovascular traits. Methods Mol Med.128:137-52 2006. 22. Gulcher J, Stefansson K. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2009 Mar 26;360(13):1360; author reply 1361. 23. Gulcher J, Stefansson K. Questions about genetic variation in 9p21 as a predictor of cardiovascular risk. Ann Intern Med. 2009 May 19;150(10):736; author reply 737. 24. Stefansson K, Dieperink ME, Richman DP, and Marton LS. Sharing of epitopes by bacteria and the nicotinic acetylcholine receptor: a possible role in the pathogenesis of myasthenia gravis. Annals NY Academy Science 505:451, 1987.
  • 5. 25. Stefansson K, Wollmann RL, and Huttenlocher PR: Lineages of cells in the central nervous system lesions of tuberous sclerosis. In: Tuberous Sclerosis, M.R. Gomez (ed) Raven Press, 1988. 26. Hemesath TJ, Tarasewicz D, O'Neill A, Gulcher JR, and Stefansson K. A 70kd polypeptide secreted by human peripheral blood mononuclear cells that suppresses proliferation of a human glioblastoma cell line. Annals of the NY Academy of Sciences 540:333, 1988. 27. Gulcher JR, and Stefansson K. Cloning of cDNA coding for two large polypeptides (gps 150/225) found in myelinating oligodendrocytes. Annals NY Academy of Sciences 540:405, 1988. 28. Khoury MJ, McBride CM, Schully SD, Ioannidis JP, Feero WG, Janssens AC, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, Davis BR, Downing GJ, Duross A, Friedman S, Gail MH, Ginsburg GS, Green RC, Greene MH, Greenland P, Gulcher JR, Hsu A, Hudson KL, Kardia SL, Kimmel PL, Lauer MS, Miller AM, Offit K, Ransohoff DF, Roberts JS, Rasooly RS, Stefansson K, Terry SF, Teutsch SM, Trepanier A, Wanke KL, Witte JS, Xu J. The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med. 2009 Aug;11(8):559-67. Original Contributions 29. Stefansson K, Antel JP, Oger J, Burns J, Noronha ABC, Roos RP, Arnason BGW, Gudmundsson G. Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes. Annals of Neurology 7:436, 1980. 30. Szuchet S, Stefansson K, Wollmann RL, Dawson G, and Arnason BGW. Maintenance of isolated oligodendrocytes in long-term culture. Brain Research 200:151, 1980. 31. Stefansson K and Wollmann RL. Distribution of glial fibrillary acidic protein in central nervous system lesions of tuberous sclerosis. ACTA Neuropathologica (Berlin) 52:135, 1980. 32. Stefansson K, and Wollmann RL. Distribution of the neuronal specific protein, 14-3-2, in central nervous system lesions of tuberous sclerosis. ACTA Neuropathologica (Berlin) 53:113, 1981. 33. Stefansson K, Wollmann RL, and More BW. Distribution of S-100 protein outside the central nervous system in humans and rats. Brain Research 234:309, 1982.
  • 6. 34. Stefansson K, and Wollmann RL. The S-100 protein in granular cell tumors (myoblastomas). Cancer 49:1834, 1982. 35. Stefansson K, Wollmann RL and Jerkovic M. S-100 protein in soft tissue tumors derived from Schwann cells and melanocytes. American J Pathology 106:261, 1982. 36. Stefansson K, Wollmann RL, More BW, and Arnason BGW. S-100 protein in human chondrocytes. Nature 295:63, 1982. 37. Beutler B, Stefansson K, and Arnason BGW. A biochemically distinct subpopulation of neurons in the substantia gelatinosa: study with G-6-PD histochemistry. J Neurological Science 55(2):175, 1982. 38. Antel JP, Chelmicka-Schorr E, Sportiello M, Stefansson K, Wollmann RL, and Arnason BGW. Muscle acid protease activity in amyotrophic lateral sclerosis: correlation with clinical and pathological features. Neurology 32:901, 1982. 39. Lukes SA, Wollmann RL, and Stefansson K. Meningeal sarcomatosis and multiple astrocytomas. Archives Neurology 40:179, 1983. 40. Stefansson K, Marton LS, Antel JP, Wollmann RL, Roos RP, Chejfec C, and Arnason BGW. Neuropathy accompanying IgM monoclonal gammopathy. ACTA Neuropathologica 59:255, 1983. 41. Molnar ML, Stefansson K, Marton LS, Tripathi RC, and Molnar GK. Distribution of S-100 protein and glial fibrillary acidic protein in normal and gliotic retina. Experimental Eye Research 38:27, 1984. 42. Molnar ML, Stefansson K, Marton LS, Tripathi RC, and Molnar GK. Immunohistochemistry of human retinoblastomas: distribution of 14-3-2, glial fibrillary acidic protein, myelin associated glycoprotein and S-100 protein. American J Ophthalmology 97:308, 1984. 43. Molnar ML, Stefansson K, Molnar GK, Tripathi RC, and Marton LS. The distribution of S-100 protein in the retina of man, rabbit and chicken: a comparative study. Investigative Ophthalmology Visual Science 26(3):283, 1985. 44. Marton LS, and Stefansson K. Developmental alterations in molecular weights of proteins in the human central nervous system that react with three monoclonal antibodies against myelin-associated glycoprotein. J Cell Biology 99:1642, 1984. 45. Stefansson K, Molnar ML, Marton LS, Molnar GK, Mihovilovic M, and Richman DP. Myelin-associated glycoprotein in human retina. Nature 307:548, 1984.
  • 7. 46. Dawson G, and Stefansson K. Gangliosides of human spinal cord: aberrant composition of cords from patients with amyotrophic lateral sclerosis. J. Neuroscience Research 12:213, 1984. 47. Busis NA, Halperin JJ, Stefansson K, Kwiatkowski DJ, Sagar SM, Schiff SR, and Logigian EL. Peripheral neuropathy with elevated serum IgM and paraproteinemia in a mother and son. Neurology 35:679, 1985. 48. Stefansson K, Dieperink ME, Richman DP, Gomez CM, and Marton LS. Sharing of antigenic determinants between the nicotinic acetylcholine receptor and proteins in E coli, P vulgaris and K pneumoniae: possible role in the pathogenesis of myasthenia gravis. New England J Medicine 312:221, 1985. 49. Babikian VL, Stefansson K, Dieperink ME, Arnason BGW, Marton LS, and Levy BE. Paraneoplastic myelopathy: antibodies against a protein in normal spinal cord and underlying neoplasm. Lancet 6:49, 1985. 50. Stefansson K, Marton LS, Dieperink ME, Schlaepfer WW, and Molnar GK. Circulating autoantibodies against the 200,000 dalton protein of neurofilaments in the sera of normal individuals. Science 288:1117, 1985. 51. Adamis AP, Molnar ML, Tripathi BJ, Emmerson MS, Stefansson K, and Tripathi RC. Neuronal-specific enolase in human corneal endothelium and posterior keratocytes. Experimental Eye Research 41:665, 1985. 52. Lieberman F, Marton LS, and Stefansson K. Pattern of reactivity of IgM from the sera of 8 patients with IgM monoclonal gammopathy and neuropathy with components of neural tissues: evidence for interaction with more than one epitope. ACTA Neuropathologica (Berlin) 68:196, 1985. 53. Antel JP, Kuchibholta J, and Stefansson K. Generation of monoclonal antibodies (mcAbs) recognizing neuronal elements in formalin-fixed paraffin- embedded human tissue. J Neuropathology Experimental Neurology 44:533, 1985. 54. Stefansson K, Reder AT, Antel JP. An epitope shared by central nervous system myelin and peripheral blood macrophages. J. Neuroimmunology 12:49, 1986. 55. Gulcher JR, Marton LS, and Stefansson K. Two large glycosylated polypeptides found in myelinating oligodendrocytes but not in myelin. PNAS (USA) 83:2118, 1986. 56. Molnar ML, Roytta M, Stefansson K, Salmi TA, and Molnar GK. Myelin associated glycoprotein in the developing human retina. Experimental Eye Research 42:112, 1986. 57. Marton LS, and Stefansson K. Exposure of binding sites for antibodies and concanavalin A on collagen by solubilization in hot urea. J Immunology Methods 91:187, 1986.
  • 8. 58. Tripathi BJ, Tripathi RC, Stefansson K, Harvan WL, and Fitch FW: Monoclonal antibodies to human trabecular endothelium: a preliminary report on production and characterization. Experimental Eye Research 43:863, 1986. 59. Georgsson G, Palsson PA, Petursson G, Houwers DJ, and Stefansson K. Immunohistochemical detection of virus protein in the brain of an AIDS patient with a monoclonal antibody to the P25 core protein of visna virus. ACTA Neuropathologica 73:406, 1987. 60. Nicholas MK, Antel JP, Stefansson K, and Arnason BGW. Rejection of H-2 incompatible neural transplants placed into cerebral ventricles of the mouse. J. Immunology 7:112, 1987. 61. Nicholas MK, Stefansson K, Antel JP, and Arnason BGW. An in vivo and in vitro analysis of systemic immune function in mice with histologic evidence of neural transplant rejection. J. Neuroscience Research 18:245, 1987. 62. Nicholas MK, Sagher O, Hartley JP, Stefansson K, Arnason BGW. A phenotypic analysis of T lymphocytes from brains of mice with allogeneic transplants. Progress in Brain Research 78:249, 1988. 63. Mikol DD, Wrabetz L, Marton LS, and Stefansson K. Developmental changes in the molecular weights of polypeptides in the human central nervous system that carry the HNK-1 epitope and bind phaseolus vulgaris lectins. J Neurochemistry 50:1924, 1988. 64. Mikol DD, and Stefansson K. A phosphatidylinositol-linked peanut agglutinin binding glycoprotein in CNS myelin and on oligodendrocytes. J Cell Biology 106:1278, 1988. 65. Gulcher JR, Nies D, Marton LS, and Stefansson K. An alternatively spliced region of the human hexabrachion contains a novel repeat of potential N- glycosylatin sites. PNAS (USA) 86:1588, 1989. 66. Gulcher JR, and Stefansson K. Determination of contiguity of subclones using polymerase chain reaction. Nucleic Acid Research 16(22): 1988. 67. Marton LS, Gulcher JR, and Stefansson K. Binding of hexabrachions to heparin and DNA. J Biological Chemistry 264(22):13145, 1989. 68. Tripathi BJ, Marcus CH, Tripathi RC, Millard CB, Gulcher JR, and Stefansson K: Monoclonal antibodies and lectins as probes for investigation of cell biology of human trabecular meshwork: a preliminary report. Ophthalmic Res. 21(27):1989. 69. Mikol DD, Gulcher JR, and Stefansson K. The oligodendrocyte-myelin glycoprotein (OMgp) belongs to a distinct family of proteins and contains the HNK-1 carbohydrate. J. Cell Biol. 110:471, 1990.
  • 9. 70. Gulcher JR, Alexakos MJ, LeBeau MM, Lemons RS, and Stefansson K. Chromosomal localization of the human hexabrachion (tenascin) gene and evidence for recent reduplication within it. Genomics 6:616, 1990. 71. Aarli JA, Stefansson K, Marton LS, and Wollmann RL. Patients with myasthenia gravis and thymoma have in their sera antibodies against titin. J Clinical and Experimental Immunology 82:284, 1990. 72. Mikol DD, Alexakos MJ, Bayley CA, Lemons RS, LeBeau MM, and Stefansson K. Structure and chromosomal localization of the gene for the oligodendrocyte-myelin glycoprotein. J Cell Biology 111:2673, 1990. 73. Nies DE, Hemesath TJ, Kim J-H, Gulcher JR, and Stefansson K. The complete cDNA sequence of human hexabrachion (Tenascin): A multidomain protein containing unique EGF repeats. J Biological Chemistry 266(5):2818, 1991. 74. Gulcher JR, Nies DE, Alexakos ME, Ravikant NA, Sturgill ME, Marton LS, and Stefansson K. Structure of the human hexabrachion (tenascin) gene. Proc. Nat'l. Acad. Sci. (USA) 88: 9438, 1991. 75. Dieperink ME, O'Neill A, Maselli R, and Stefansson K. Experimental allergic neuritis in the SJL/J mouse: dysfunction of peripheral nerve without clinical signs. J Neuroimmunol. 35: 247, 1991. 76. Dieperink ME, O'Neill A, Magnoni G, Wollmann RL, Heinrikson RL, Zürcher-Neely HA, and Stefansson K. SAG: A glycoprotein induced in Schwann Cells by axonal contact. J. Neuroscience, 12(6): 2177-2185, 1992. 77. Bansal R, Stefansson K, and Pfeiffer SE. Proligoblast antigen (POA), a developmental antigen expressed by A007/04-positive oligodendro-cyte progenitors prior to the appearance of sulfatide and galacto-cerebroside. J. Neurochemistry 58: 2221-2229, 1992. 78. White DM, Mikol DD, Espinosa R, Weimer B, Le Beau MM and Stefansson K. Structure and chromosomal localization of the gene for the brain form of prostaglandin D2 synthetase. J. Biological Chemistry 267 (32): 2302-2308, 1992. 79. Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF and Breakfield XO. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Human Mol. Genet. 1: 141, 1992. 80. Kobayashi K, Vokes EE, Stefansson K, Janish L, Vogelzang NJ, Berezin F. and Ratain MJ. Suramin: is adaptive control necessary? Journal of Clinical Oncology 10(12): 1984-1985, 1992. 81. Mikol DD, Rongnoparut P, Allwardt BA, Marton LS and Stefansson K. The oligodendrocyte-myelin glycoprotein of mouse: primary structure and gene structure. Genomics 17, 604-610, 1993.
  • 10. 82. Kasuya H., Weir B, White DM, and Stefansson K. Mechanism of oxyhemoglobin-induced release of endothelin-1 from cultured vascular endothelial cells and smooth muscle cells. J. Neurosurgery 79(6):892-898, 1993. 83. Hemesath TJ, and Stefansson K. Expression of tenascin (hexabrachion) in thymus and thymic nonlymphoid cells. J. Immunology, 152(2), 422-428, 1994. 84. Hemesath TJ, Marton LS and Stefansson K. Inhibition of T cell activation by the extracellular matrix protein tenascin. J. Immunology, 152, 5199-5207, 1994. 85. Brodkey JA, Laywell ED, O'Brien TF, Faissner A, Stefansson K, Dorries U, Schachner M, and Steindler DA. Focal brain injury and upregulation of a developmentally-regulated extracellular matrix protein. J. Neurosurgery. 82(1):106-112, 1995 86. Vartanian T, Cofras G, Li Y, Fischbach GD and Stefansson K. A Role for ARIA in Differentiation of Oligodendrocytes. Proc. Natl. Acad. Sci. (USA) 91, 11626-11630,1994. 87. Gulcher JR, Vartanian T, and Stefansson, K. Is Multiple Sclerosis an Autoimmune Disease? Clinical Neuroscience 2 (3/4), 246-252, 1994. 88. Apostolski S, Sadiq SA, Hays A, Corbo M, Stefansson K, LeBaron RG, Hays AP and Latov N. Identification of Gal(, 1-3)GalNAc bearing glycoproteins at the nodes of Ranvier in periperal nerve. J. Neuroscience Research 38(2):134-141, 1994. 89. Vartanian T, Li You and Stefansson K. Interferon Induces Apoptosis of Oligodendrocytes: Implications for the Pathogenesis of Multiple Sclerosis. Molecular Medicine 1(7);732-743, 1995. 90. White DM, Takeda T, DeGroot LJ, Stefánsson K, Arnason BG. Beta-trace gene expression is regulated by a core promoter and a distal thyroid hormone response element. J. Biol. Chem. 272(22), 14387-93, 1997. 91. Habib A, Marton LS, Allwardt B, Gulcher JR, Mikol DD and Stefansson K. Expression of the oligodendrocyte-myelin glycoprotein (OMgp) by neurons in the mouse central nervous system. Journal of Neurochemistry 70(4)1704-1711, 1998. 92. Habib A, Gulcher JR, T. Högnason, L Zheng, and Stefansson K. The Oligodendrocyte-myelin glycoprotein, second growth-suppressor gene within the NF1 gene. Oncogene16, 1525-1531, 1998. 93. Habib, AA, Högnason T, Ren J, Stefansson K, and Ratan RR. The epidermal growth factor receptor associates with and recruits phospatidylinositol 3-
  • 11. kinase to the platelet-derived growth factor b receptor. J. Biochem 273 (12)6885-6891, 1997. 94. Singh J, Zeller W, Zhou N, Hategen G, Mishra R, Polozov A, Yu P, Onua E, Zhang J, Zembower D, Kiselyov A, Ramírez JL, Sigthorsson G, Bjornsson JM, Thorsteinsdottir M, Andrésson T, Bjarnadottir M, Magnusson O, Fabre JE, Stefansson K, Gurney ME. Antagonists of the EP(3) Receptor for Prostaglandin E(2) Are Novel Antiplatelet Agents That Do Not Prolong Bleeding. ACS Chem Biol. 2009 Feb 5. [Epub ahead of print] Papers on attempts to find correlations between diversity in the sequence of the human genome and diversity in the human phenotype 95. Gulcher JR, Jonsson P, Kong A, Kristjansson K, Frigge ML, Karason A, Einarsdottir IE, Stefansson H, Einarsdottir AS, Sigurdardottir S, Baldursson S, Bjornsdottir S, Hrafnkelsdottir SM, Jakobsson F, Benedikz J, Stefansson K. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 17(1):84-7 1997 96. Gulcher J, Stefansson K. Population genomics: laying the groundwork for genetic disease modeling and targeting. Clin Chem Lab Med 36(8):523-7 1998 97. Arngrimsson R, Sigurdardottir S, Frigge ML, Bjarnadottir RI, Jonsson T, Stefansson H, Baldursdottir A, Einarsdottir AS, Palsson B, Snorradottir S, Lachmeijer AM, Nicolae D, Kong A, Bragason BT, Gulcher JR, Geirsson RT, Stefansson K. A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13. Hum Mol Genet 8(9):1799-805 1999 98. Gulcher J, Stefansson K. An Icelandic saga on a centralized healthcare database and democratic decision making. Nat Biotechnol 17(7):620 1999. 99. Palsson B, Palsson F, Perlin M, Gudbjartsson H, Stefansson K, Gulcher J. Using quality measures to facilitate allele calling in high-throughput genotyping. Genome Res 9(10):1002-12 1999. 100.Grant SF, Kristjansdottir H, Steinsson K, Blondal T, Yuryev A, Stefansson K, Gulcher J Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1- DR3 J Immunol Methods 244(1-2):41-7 2000. 101.Gudmundsson H, Gudbjartsson DF, Frigge M, Gulcher JR, Stefansson K. Inheritance of human longevity in Iceland. Eur J Hum Genet 8(10):743-9 2000. 102.Gulcher J, Helgason A, Stefansson K. Genetic homogeneity of Icelanders. Nat Genet 26(4):395 2000. 103.Gulcher JR, Kristjansson K, Gudbjartsson H, Stefansson K. Protection of privacy by third-party encryption in genetic research in Iceland Eur J Hum Genet 8(10):739-42 2000.
  • 12. 104.Gulcher JR, Stefansson K. The Icelandic Healthcare Database and informed consent. N Engl J Med 342(24):1827-30 2000. 105.Helgason A, Sigurdardottir S, Gulcher JR, Ward R, Stefansson K. mtDNA and the Origin of the Icelanders: Deciphering Signals of Recent Population History. Am J Hum Genet 66(3):999-1016 2000. 106.Helgason A, Sigurdardottir S, Nicholson J, Sykes B, Hill EW, Bradley DG, Bosnes V, Gulcher JR, Ward R, Stefansson K. Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland. Am J Hum Genet 67(3):697-717 2000. 107.Ingvarsson T, Stefansson SE, Hallgrimsdottir IB, Frigge ML, Jonsson H Jr, Gulcher J, Jonsson H, Ragnarsson JI, Lohmander LS, Stefansson K. The inheritance of hip osteoarthritis in Iceland. Arthritis Rheum 2000. 108.Sigurdardottir S, Helgason A, Gulcher JR, Stefansson K, Donnelly P. The mutation rate in the human mtDNA control region. Am J Hum Genet 66(5):1599-609 2000. 109.Sveinbjornsdottir S, Hicks AA, Jonsson T, Petursson H, Gudmundsson G, Frigge ML, Kong A, Gulcher JR, Stefansson K. Familial aggregation of Parkinson's disease in Iceland. N Engl J Med 343(24):1765-70 2000. 110.Grant SF, Thorleifsson G, Frigge ML, Thorsteinsson J, Gunnlaugsdottir B, Geirsson AJ, Gudmundsson M, Vikingsson A, Erlendsson K, Valsson J, Jonsson H, Gudbjartsson DF, Stefansson K, Gulcher JR, Steinsson K. The inheritance of rheumatoid arthritis in Iceland. Arthritis Rheum 44(10):2247-54 2001. 111.Gulcher J, Kong A, Stefansson K. The genealogic approach to human genetics of disease Cancer J 7(1):61-8 2001. 112.Hakonarson H, Bjornsdottir US, Ostermann E, Arnason T, Adalsteinsdottir AE, Halapi E, Shkolny D, Kristjansson K, Gudnadottir SA, Frigge ML, Gislason D, Gislason T, Kong A, Gulcher J, Stefansson K. Allelic frequencies and patterns of single-nucleotide polymorphisms in candidategenes for asthma and atopy in Iceland Am J Respir Crit Care Med 164(11):2036-44 2001. 113.Hakonarson H, Halapi E, Whelan R, Gulcher J, Stefansson K, Grunstein MM. Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changesin multiple gene expression and altered responsiveness in airway smooth muscle Am J Respir Cell Mol Biol 25(6):761-71 2001. 114.Helgason A, Hickey E, Goodacre S, Bosnes V, Stefansson K, Ward R, Sykes B. mtDna and the islands of the North Atlantic: estimating the proportions of Norseand Gaelic ancestry. Am J Hum Genet 68(3):723-37 2001.
  • 13. 115.Ingvarsson T, Stefansson SE, Gulcher JR, Jonsson HH, Jonsson H, Frigge ML, Palsdottir E, Olafsdottir G, Jonsdottir T, Walters GB, Lohmander LS, Stefansson K. A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p. Arthritis Rheum 44(11):2548-55 2001. 116.Lachmeijer AM, Arngrimsson R, Bastiaans EJ, Frigge ML, Pals G, Sigurdardottir S, Stefansson H, Palsson B, Nicolae D, Kong A, Aarnoudse JG, Gulcher JR, Dekker GA, ten Kate LP, Stefansson K. A genome-wide scan for preeclampsia in the Netherlands. Eur J Hum Genet 9(10):758-64 2001. 117.Olafsdottir BR, Rye DB, Scammell TE, Matheson JK, Stefansson K, Gulcher JR. Polymorphisms in hypocretin/orexin pathway genes and narcolepsy. Neurology 57(10):1896-9 2001. 118.Stefansson H, Einarsdottir A, Geirsson RT, Jonsdottir K, Sverrisdottir G, Gudnadottir VG, Gunnarsdottir S, Manolescu A, Gulcher J, Stefansson K. Endometriosis is not associated with or linked to the GALT gene. Fertil Steril 2001. 119.Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong A, Frigge ML, Jonsdottir GM, Hakonarson H, Gulcher J, Stefansson K. Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome. Am J Respir Crit Care Med 166(6):833-8 2002. 120.Gretarsdottir S, Sveinbjornsdottir S, Jonsson HH, Jakobsson F, Einarsdottir E, Agnarsson U, Shkolny D, Einarsson G, Gudjonsdottir HM, Valdimarsson EM, Einarsson OB, Thorgeirsson G, Hadzic R, Jonsdottir S, Reynisdottir ST, Bjarnadottir SM, Gudmundsdottir T, Gudlaugsdottir GJ, Gill R, Lindpaintner K, Sainz J, Hannesson HH, Sigurdsson GT, Frigge ML, Kong A, Gudnason V, Stefansson K, Gulcher JR. Localization of a susceptibility gene for common forms of stroke to 5q12. Am J Hum Genet 70(3):593-603 2002. 121.Gudbjartsson T, Jonasdottir TJ, Thoroddsen A, Einarsson GV, Jonsdottir GM, Kristjansson K, Hardarson S, Magnusson K, Gulcher J, Stefansson K, Amundadottir. LT A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas. Int J Cancer 100(4):476-9 2002. 122.Gudjonsson JE, Karason A, Antonsdottir AA, Runarsdottir EH, Gulcher JR, Stefansson K, Valdimarsson H. HLA-Cw6-positive and HLA-Cw6-negative patients with Psoriasis vulgaris have distinct clinical features. J Invest Dermatol 118(2):362-5 2002. 123.Gudmundsson G, Matthiasson SE, Arason H, Johannsson H, Runarsson F, Bjarnason H, Helgadottir K, Thorisdottir S, Ingadottir G, Lindpaintner K, Sainz J, Gudnason V, Frigge ML, Kong A, Gulcher JR, Stefansson K. Localization of a gene for peripheral arterial occlusive disease to chromosome1p31. Am J Hum Genet 70(3):586-92 2002.
  • 14. 124.Nicholson G, Smith AV, Jonsson F, Gustafson Ó, Stefansson K, Donnelly P. Assessing population differentiation and isolation from single-nucleotide polymorphism data. J R Statistical Society 64, 695-715, 2002. 125.Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, Adalsteinsdottir E, GislasonD, Finnbogason G, Gislason T, Kristjansson K, Arnason T, Birkisson I, Frigge ML, Kong A, Gulcher JR, Stefansson K. A major susceptibility gene for asthma maps to chromosome 14q24. Am J Hum Genet 71(3):483-91 2002. 126.Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S A. susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 52(5):549-55 2002. 127.Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K. A high- resolution recombination map of the human genome. Nat Genet 31(3):241-7 2002. 128.Kristjansson K, Manolescu A, Kristinsson A, Hardarson T, Knudsen H, Ingason S, Thorleifsson G, Frigge ML, Kong A, Gulcher JR, Stefansson K. Linkage of essential hypertension to chromosome 18q. Hypertension 39(6):1044-9 2002. 129.Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 17(3):555-9 2002. 130.Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, Brynjolfsson J, Gunnarsdottir S, Ivarsson O, Chou TT, Hjaltason O, Birgisdottir B, Jonsson H, Gudnadottir VG, Gudmundsdottir E, Bjornsson A, Ingvarsson B, Ingason A, Sigfusson S, Hardardottir H, Harvey RP, Lai D, Zhou M, Brunner D, Mutel V, Gonzalo A, Lemke G, Sainz J, Johannesson G, Andresson T, Gudbjartsson D, Manolescu A, Frigge ML, Gurney ME, Kong A, Gulcher JR, Petursson H, Stefansson K. Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71(4):877-92 2002. 131.Backman VM, Thorsson AV, Fasquel A, Andrason HS, Kristjansson K, Gulcher JR, Stefansson K. HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandic and Norwegian populations. Diabetologia 45(3):452-3 2003. 132.Bjornsson A, Gudmundsson G, Gudfinnsson E, Hrafnsdottir M, Benedikz J, Skuladottir S, Kristjansson K, Frigge ML, Kong A, Stefansson K, Gulcher JR. Localization of a gene for migraine without aura to chromosome 4q21. Am J Hum Genet 73(5):986-93 2003.
  • 15. 133.Blondal T, Waage BG, Smarason SV, Jonsson F, Fjalldal SB, Stefansson K, Gulcher J, Smith AV. A novel MALDI-TOF based methodology for genotyping single nucleotidepolymorphisms. Nucleic Acids Res 31(24):e155 2003. 134.Giedraitis V, Modin H, Callander M, Landtblom AM, Fossdal R, Stefansson K, Hillert J, Gulcher J. Genome-wide TDT analysis in a localized population with a high prevalence of multiple sclerosis indicates the importance of a region on chromosome 14q. Genes Immun 4(8):559-63 2003. 135.Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, Jonsdottir T, Gudmundsdottir T, Bjarnadottir SM, Einarsson OB, Gudjonsdottir HM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Andrason H, Gudmundsdottir AS, Sigurdardottir M, Chou TT, Nahmias J, Goss S, Sveinbjornsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Gurney M, Gudbjartsson D, Frigge ML, Kong A, Stefansson K, Gulcher JR. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet 35(2):131-8 2003. 136.Gudjonsson JE, Karason A, Antonsdottir A, Runarsdottir EH, Hauksson VB, Upmanyu R, Gulcher J, Stefansson K, Valdimarsson H. Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes. Br J Dermatol 148(2):233-5 2003. 137.Helgason A, Hrafnkelsson B, Gulcher JR, Ward R, Stefansson K. A populationwide coalescent analysis of Icelandic matrilineal and patrilinealgenealogies: evidence for a faster evolutionary rate of mtDNA lineages than Ychromosomes. Am J Hum Genet 72(6):1370-88 2003. 138.Helgason A, Nicholson G, Stefansson K, Donnelly P. A reassessment of genetic diversity in Icelanders: strong evidence from multipleloci for relative homogeneity caused by genetic drift Ann Hum Genet 67(Pt 4):281-97 2003. 139.Helgason A, Stefansson K. Erroneous claims about the impact of mitochondrial DNA sequence database errors. Am J Hum Genet 73(4):974-5 2003. 140.Jonasdottir A, Thorlacius T, Fossdal R, Jonasdottir A, Benediktsson K, Benedikz J, Jonsson HH, Sainz J, Einarsdottir H, Sigurdardottir S, Kristjansdottir G, Sawcer S, Compston A, Stefansson K, Gulcher J. A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers. J Neuroimmunol 143(1-2):88-92 2003. 141.Jonsson H, Manolescu I, Stefansson SE, Ingvarsson T, Jonsson HH, Manolescu A, Gulcher J, Stefansson K. The inheritance of hand osteoarthritis in Iceland. Arthritis Rheum 48(2):391-5 2003.
  • 16. 142.Karason A, Gudjonsson JE, Upmanyu R, Antonsdottir AA, Hauksson VB, Runasdottir EH, Jonsson HH, Gudbjartsson DF, Frigge ML, Kong A, Stefansson K, ValdimarssonH, Gulcher JR. A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidencefor imprinting. Am J Hum Genet 72(1):125-31 2003. 143.Modin H, Masterman T, Thorlacius T, Stefansson M, Jonasdottir A, Stefansson K, Hillert J, Gulcher J. Genome-wide linkage screen of a consanguineous multiple sclerosis kinship. Mult Scler 9(2):128-34 2003. 144.Reynisdottir I, Thorleifsson G, Benediktsson R, Sigurdsson G, Emilsson V, Einarsdottir AS, Hjorleifsdottir EE, Orlygsdottir GT, Bjornsdottir GT, Saemundsdottir J, Halldorsson S, Hrafnkelsdottir S, Sigurjonsdottir SB, Steinsdottir S, Martin M, Kochan JP, Rhees BK, Grant SF, Frigge ML, Kong A, Gudnason V, Stefansson K, Gulcher JR. Localization of a susceptibility gene for type 2 diabetes to chromosome5q34-q35. Am J Hum Genet 73(2):323-35 2003. 145.Stefansson H, Sarginson J, Kong A, Yates P, Steinthorsdottir V, Gudfinnsson E, Gunnarsdottir S, Walker N, Petursson H, Crombie C, Ingason A, Gulcher JR, Stefansson K, St Clair D. Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet 72(1):83-7 2003. 146.Stefansson H, Thorgeirsson TE, Gulcher JR, Stefansson K. Neuregulin 1 in schizophrenia: out of Iceland. Mol Psychiatry 8(7):639-40 2003. 147.Stefansson SE, Jonsson H, Ingvarsson T, Manolescu I, Jonsson HH, Olafsdottir G, Palsdottir E, Stefansdottir G, Sveinbjornsdottir G, Frigge ML, Kong A, Gulcher JR, Stefansson K. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. Am J Hum Genet 72(6):1448-59 2003. 148.Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SF, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 1(3):E69 2003. 149.Thorgeirsson TE, Oskarsson H, Desnica N, Kostic JP, Stefansson JG, Kolbeinsson H, Lindal E, Gagunashvili N, Frigge ML, Kong A, Stefansson K, Gulcher JR. Anxiety with panic disorder linked to chromosome 9q in Iceland. Am J Hum Genet 72(5):1221-30 2003. 150.Amundadottir LT, Thorvaldsson S, Gudbjartsson DF, Sulem P, Kristjansson K, Arnason S, Gulcher JR, Bjornsson J, Kong A, Thorsteinsdottir U, Stefansson K. Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyondthe Nuclear Family. PLoS Med 1(3):e65 2004. 151.Birkisson IF, Halapi E, Bjornsdottir US, Shkolny DL, Adalsteinsdottir E, Arnason T, Gislason D, Gislason T, Gulcher J, Stefansson K, Hakonarson H.
  • 17. Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma. Am J Respir Crit Care Med 169(9):1007-13 2004. 152.Fossdal R, Jonasson F, Kristjansdottir GT, Kong A, Stefansson H, Gosh S, Gulcher JR, Stefansson K. A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinalatrophy (helicoid peripapillary chorioretinal degeneration). Hum Mol Genet 13(9):975-81 2004. 153.Hakonarson H and Stefansson K. Role of pharmacogenomics in drug development. Drug Development Research 62(2): 86-96 2004 154.Halapi E, Stefansson K, Hakonarson H. Population genomics of drug response. Am J Pharmacogenomics 4(2):73-82 2004. 155.Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SF, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Gurney ME, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K. The gene encoding 5-lipoxygenase activating protein confers risk of myocardialinfarction and stroke. Nat Genet 36(3):233-9 2004 156.Jonsson S, Thorsteinsdottir U, Gudbjartsson DF, Jonsson HH, Kristjansson K, Arnason S, Gudnason V, Isaksson HJ, Hallgrimsson J, Gulcher JR, Amundadottir LT, Kong A, Stefansson K. Familial risk of lung carcinoma in the Icelandic population. JAMA 292(24):2977-83 2004. 157.Kong A, Barnard J, Gudbjartsson DF, Thorleifsson G, Jonsdottir G, Sigurdardottir S, Richardsson B, Jonsdottir J, Thorgeirsson TE, Frigge ML, Lamb NE, Sherman S, Gulcher JR, Stefansson K. Recombination rate and reproductive success in humans. Nat Genet 36(11):1203-6 2004. 158.Laufs J, Andrason H, Sigvaldason A, Halapi E, Thorsteinsson L, Jonasson K, Soebech E, Gislason T, Gulcher JR, Stefansson K, Hakonarson H. Association of vitamin D binding protein variants with chronic mucushypersecretion in Iceland. Am J Pharmacogenomics 4(1):63-8 2004. 159.Li T, Stefansson H, Gudfinnsson E, Cai G, Liu X, Murray RM, Steinthorsdottir V, Januel D, Gudnadottir VG, Petursson H, Ingason A, Gulcher JR, Stefansson K, Collier DA. Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype. Mol Psychiatry 9(7):698-704 2004. 160.Reynisdottir I, Gudbjartsson DF, Johannsson JH, Manolescu I, Kristjansson K, Stefansson K, Gulcher J, Bjornsson S. A genetic contribution to inflammatory bowel disease in Iceland: a genealogic approach Clin Gastroenterol Hepatol 2(9):806-12 161.Stefansson H, Steinthorsdottir V, Thorgeirsson TE, Gulcher JR, Stefansson K. Neuregulin 1 and schizophrenia. Ann Med 36(1):62-71 2004.
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  • 37. Gudmundsson, Kristleifur Kristjansson, Jeffrey R. Gulcher, Kari Hemminki, Annika Lindblom, Lambertus A. Kiemeney, Jose I. Mayordomo, John A. Foekens, Fergus J. Couch, Olufunmilayo I. Olopade, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Thorunn Rafnar, Oskar T. Johannsson, Kari Stefansson. Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus. Submitted to PLOS, January 2010. Abstracts 1. Stefansson K, Roos RP, Wollmann RL, Arnason BGW, and Szuchet S. Immunological characterization of isolated oligodendrocytes maintained in long-term culture. Society of Neuroscience (abstract), 95th Annual Meeting, Atlanta GA, November 1979, p. 759. 1979 2. Szuchet S, Stefansson K, Dawson G, and Arnason BGW. Biochemical and immunological studies on isolated oligodendrocytes. 10th Annual Meeting American Society of Neurochemistry (abstract) 1979, p. 22. 3. Stefansson K, Roos RP, Wollman RL, and Szuchet S. Immunocytochemical identification of isolated oligodendrocytes. J Neuropathology and Experimental Neurology 39:390, 1980. 4. Stefansson K, Antel JP, Wollman RL, Levin KH, Larson R, and Arnason BGW. Antineuronal antibodies in serum of a patient with Hodgkin's disease and cerebellar ataxia. Neurology 31:163, 1981. 5. Stefansson K, Wollmann RL, and Arnason BGW. S-100 protein in an insulinoma accompanied by peripheral neuropathy. J Neuropathology and Experimental Neurology 40:320, 1981. 6. Stefansson K, Marton L, Roos RP, Helgason C, Yu R, Antel JP, and Arnason BGW. Heterogeneity of neuropathies accompanying monoclonal gammopathies. Neurology 12:107, 1982. 7. Molnar G, Stefansson K, Marton L, and Arnason BGW. Antiperipheral nerve antibodies in experimental allergic neuritis (EAN): an analysis by immunoblots. Neurology 33(4):126, 1983. 8. Antel JP, Bernstein A, Hendrickson B, Rosenkoetter P, Kohn N, and Stefansson K. Evaluation of human neurons by monoclonal antibodies. Neurology 33(4):104, 1983. 9. Stefansson K, Molnar ML, Marton LS, Mihovilovic M, Molnar GK, and Richman DP. Myelin associated glycoprotein in Muller cells of human retina:
  • 38. demonstration by monoclonal antibodies. Society for Neuroscience (abstract) 13th Annual Meeting Boston, MA 343(2):1983. 10. Marton LS, and Stefansson K. Differences between myelin associated glycoprotein from central and peripheral nervous systems detected with monoclonal antibodies. Society for Neuroscience (abstract) 13th Annual Meeting Boston, MA 71(1):1983. 11. Lieberman F, Stefansson K, and Dawson G. Demonstration of GD2 ganglioside in human peripheral nerve: 15th Annual Meeting of American Society for Neurochemistry (abstracts), 148:1984. 12. Kletti NB, Marton LS, Antel JP, and Stefansson K. Antibodies against neural antigens in sera of patients with amyotrophic lateral sclerosis. Neurology 34(suppl 1):238, 1984. 13. Babikian V, Stefansson K, Marton LS, Lieberman F, and Arnason BGW. Antibodies against antigens shared by an oat cell tumor and neural tissue in the serum of the patient with paraneoplastic disorder of peripheral nerve and spinal cord. Neurology 34(suppl 1):186, 1984. 14. Lieberman F, Stefansson K, Marton LS, and Atweh S. Antiretinal antibodies in serum of a patient with retinal degeneration on the background of an oat cell cancer of the lung. Neurology 34(suppl 1):386, 1984. 15. Marton LS, and Stefansson K. Developmental alterations in molecular weights of proteins in the human central nervous system that react with antibodies against myelin-associated glycoprotein (MAG). Neurology 34(suppl 1):140, 1984. 16. Stefansson K, Marton L, Molnar GK, Antel JP, and Arnason BGW. Antibodies against the 200kd protein of neurofilaments in sera of normal people. Annals of Neurology 16:112, 1984. 17. Stefansson K, Dieperink ME, Richman DP, Marton LS.: Antigenic determinants shared by nicotinic acetylcholine receptor and peptides in bacteria. Society for Neuroscience (abstract) 14th Annual Meeting of California, 291:1984. 18. Marton LS, and Stefansson K. Binding of monoclonal antibodies against myelin-associated glycoprotein (MAG) to a low molecular weight peptide in peripheral nerve. Soc. for Neurosci. (abstract) 14th Annual Meeting of California, 81: 1984. 19. Gulcher JR, Marton LS, and Stefansson K. Proteins Related to Myelin- Associated Glycoprotein in Human CNS. American Society for Neuroscience (abstracts) 15th Annual Meeting A5:1985.
  • 39. 20. Tripathi BJ, Tripathi RC, Stefansson K, and Adamis A. Neuroectodermal origin of corneal endothelium and keratocytes in human eyes. Invest. Ophthalmology and Visual Science 26(3)274:1985. 21. Dieperink ME, Marton LS, and Stefansson K. Antigenic determinants shared by human myelin and enteric bacteria. Abstracts of the Scandinavian Society for Immunology (1985). 22. Dieperink ME, Sahm D, Marton LS, Antel JP, and Stefansson K. Sharing of antigenic determinants between myelin and enteric bacteria. Annals of Neurology 18(1):129, 1985. 23. Antel JP, Kuchibhotla J, Stefansson K. Immunohistochemical studies with monoclonal antibodies recognizing human neurons in formalin-fixed tissue. Annals of Neurology 18(1):130. 24. Tripathi BJ, Tripathi RC, Stefansson K, and Fitch FW. Production and characterization of monoclonal antibodies to human trabecular endothelium. J Investigative Ophthalmology 1986. 25. Gulcher JR, and Stefansson K. Demonstration of large glycosylated polypeptides in a subpopulation of reactive glial cells in and around active M.S. plaques. Neurology 36(4):288, 1986. 26. Stefansson K, Reder AT, and Antel JP. An epitope shared by central nervous system myelin and peripheral blood macrophages. Neurology 36(4):287, 1986. 27. Mikol DD, Wrabetz L, Marton LS, and Stefansson K. Developmental alterations in lectin-binding polypeptides in the human CNS. Neurology 36(4):144, 1986. 28. Georgsson G, Hammers DJ, Stefansson K, and Petursson G. Immunocytochemical detection of infected cells in the CNS in visna and AIDS. Abstracts of the 10th International Congress of Neuropathology, 1986. 29. Stefansson K, Antel JP, and Reder AT. Antigenic mimicry ties together central nervous system myelin and peripheral blook macrophages. Abstracts of the 10th International Congress of Neuropathology, 1986. 30. Mikol DD, Wrabetz L, Marton LS, Stefansson K. Changes in sizes of lectin- binding polypeptides of the human CNS accompanying maturation. Abstracts of the 10th International Congress of Neuropathology, 1986. 31. Gulcher JR, and Stefansson K. Two large glycosylated polypeptides in myelinating oligodendrocytes and a subpopulation of glial cells in and around MS plaques. Abstracts of the 10th International Congress of Neuropathology, 1986.
  • 40. 32. Nicholas MK, Antel JP, Wong A, Stefansson K, and Arnason BGW. Immune responsiveness to iso- and allogeneic Intraventricular Neural implants in the mouse. Annals of Neurology 20(1):165, 1986. 33. Georgsson G, Houvers DJ, Stefansson K, Palsson PA, and Petursson G. Immunohistochemical staining of viral proteins in the CNS in visna and AIDS. Research Conference of the University of Iceland Medical School-Reykjavik, October 1986. 34. Swanson KA, Gulcher JR, and Stefansson K. A 180kd glycoprotein found in ventral horn neurons of spinal cord. Neurology 37(3):161, 1987. 35. Nicholas MK, Antel JP, Stefansson K, and Arnason BGW. Histologic evidence for rejection of neural transplants in the absence of evidence for host systemic sensitization in the mouse. Neurology 37(3):368, 1987. 36. Hemesath TJ, Tarasewicz D, O'Neill A, Gulcher JR, and Stefansson K.. A 70kd polypeptide secreted by human peripheral blood mononuclear cells that suppresses proliferation of a human glioblastoma cell line. J Neuroimmunology 16(1):77, 1987. 37. Gulcher JR, and Stefansson K. Cloning of cDNA coding for two large polypeptides (gps 150/225) found in myelinating oligodendrocytes. J Neuroimmunology 16(1): 68, 1987. 38. Mikol DD, Szuchet S, and Stefansson K. A peanut agglutinin-binding glycoprotein in CNS myelin and oligodendrocytes. J Neuroimmunology 16(1):125, 1987. 39. Dieperink ME, Marton LS, and Stefansson K. Reactivity of human monoclonal immunoglobulins (HMI) with autoantigens. J Neuroimmunology 16(1):42, 1987. 40. Dieperink ME, O'Neill A, Kim Y-H, Maselli R, and Stefansson K. Characterization of EAN in the SJL/J mouse. J Neuroimmunology 16(1):43, 1987. 41. Marton LS, Gulcher JR, and Stefansson K. Gp 150/225 bind to heparin. J Cell Biology 105:135, 1987. 42. Nicholas MK, Stefansson K, and Arnason BGW. Immunopathologic characteristics of intra-CNS and extra-CNS fetal neural allografts. Abstracts Society for Experimental Neuropathology, 1988. 43. Nicholas MK, Stefansson K, and Arnason BGW. T-cell phenotypes in allogeneic neural transplant rejection: a time course study. Neurology 38:273, 1988. 44. Gulcher JR, and Stefansson K. Analysis of the gene for the hexabrachions. Transactions of the American Society for Neurochemistry 20:159, 1989.
  • 41. 45. Stefansson K, and Gulcher JR. What does the structure of hexabrachion tell us. Transactions of the American Society for Neurochemistry 20:201, 1989. 46. Marton LS, Gulcher JR, and Stefansson K. Comparison of the binding properties of fibronectin and hexabrachion. Transactions of the American Society for Neurochemistry 20:154, 1989. 47. Gudmundsson G, Jensson O, Arnason A, and Stefansson K. Huntington's Chorea in Iceland: epidemiological study. Clinical Genetics 35:209, 1989. 48. Gulcher JR, Nies D, and Stefansson K. Sequences of alternative messages of hexabrachion. Neurology 39:240, 1989. 49. Marton LS, Gulcher JR, Johnson DL, Erickson RK, and Stefansson K. The HNK-1 carbohydrate of hexabrachion in normal and neoplastic CNS. J Cell Biology 109(4):321, 1989. 50. Mikol DD, Gulcher JR, and Stefansson K. The oligodendrocyte-myelin glycoprotein (OMgp): an adhesion molecule in the oligodendrocyte myelin unit. J Neuropathology and Experimental Neurology 49(3):286, 1990. 51. Aarli JA, Stefansson K, Gilhus NG, Marton LS, and Wollmann RL. CA-antigen in striated muscle: Localization and chemical nature. ACTA Neurologica Scandinavica 128(H82):46, 1990. 52. Gulcher JR, Marton LS, and Stefansson K. The HNK-1 carbohydrate is absent from hexabrachion secreted by astrocytomas: Implications for invasiveness. ACTA Neurologica Scandinavica 128(H82):63, 1990. 53. Mikol DD, Gulcher JR, and Stefansson K. The oligodendrocyte-myelin glycoprotein (OMgp): Primary structure and relationship to other proteins. ACTA Neurologica Scandinavica 128(H82):64, 1990. 54. Mikol DD, Gulcher JR, and Stefansson K. The oligodendrocyte-myelin glycoprotein (OMgp) belongs to a distinct family of proteins. Neurology 40(4):163, 1990. 55. Gulcher JR, Marton LS, and Stefansson K. The HNK-1 carbohydrate is absent from hexabrachion secreted by astrocytomas: implications for invasiveness. Neurology 40(4):395, 1990. 56. Marton LS, Gulcher JR, Kim J-H, Hemesath TJ, and Stefansson K. Alternate splicing and localizaton of hexabrachion in developing cerebellum. J Cell Biology 111(5):17, 1990. 57. Puffenberger EG, Stefansson K, Pyeritz RE, Kwiatkowski DJ, and Francomano CA. The hexabrachion gene: refined mapping and exclusion as the causative gene in nail-patella syndrome. Int'l Conf Human Genetics. 1991.
  • 42. 58. Dieperink ME, O'Neill A, Magnoni G, Wollmann RL, Heinrikson R, and Stefansson K. P170, a distinct Schwann cell-specific glycoprotein involved in Schwann cell-axon interactions. Neurology 41(3):205, 1991. 59. Mikol DD, Alexakos MJ, Bayley CA, Lemons RS, LeBeau MM, and Stefansson K. Structure of the oligodendrocyte-myelin glycoprotein (OMgp) gene. Neurology 41(3):381, 1991. 60. Ravikant NA, Marton LS, Nies DE, Gulcher JR and Stefansson K. The structure of the Hexabrachion (Tenascin ) gene. The Journal of Cell Biol. 115 (3): 150, 1991. 61. Bansal R, Stefansson K and Pfeiffer SE. Proligodendrocyte antigen (POA): monoclonal antibodies A007 and O4 both recognize late oligodendrocyte progenitors prior to synthesis of sulfatide and galactocerebroside. (Abstr) J. Neurochem. 57 (suppl), S121B, 1992. 62. Allwardt, BA, Habib, AA, Marton LS, Gulcher JR, Mikol DD and Stefansson, K. Expression of the oligodendrocyte-myelin glycoprotein in the central nervous system. Molecular Biology of the Cell (4), 77a, 1993. 63. Bachman VM, Gulcher JR., Fasquel AC, Andrason H, Einarsdóttir A, Kristjánsson K, Þórsson AV, and Stefánsson K. 1998 Type I diabetes in Iceland: genotyping of the DRB gene. The American Journal of Human Genetics 63 (4), A207 64. Kristjánsson K, Gulcher JR, Hjartarson J, Guðbjartsson H, and Stefánsson K 1998 Population based genetic research in Iceland- ethical and social standards of deCODE genetics INC. The American Journal of Human Genetics 63(4), A234 65. Pálsson B, Pálsson F, Ng SK, Perlin MW, Guðbjartsson H, Stefánsson K, and Gulcher JR 1998 Using TrueAllele for automated allele calling in high throughput genotyping. The American Journal of Human Genetics 63(4), A 1370 66. Steinthorsdottir V, Stefansson H, Geirsson RT, Jonsson H, Kong A, Frigge M, Gulcher J, Stefansson K 1998 Suggestive linkage to chromosome 3 in Icelandic endometriosis patients Am J Hum Genet 63 (4): A1793 (1998) American Society of Human Genetics, Denver, USA 1998 67. Stefánsson H, Geirsson RT, Guðnason GA, Kong A, Frigge ML, Gulcher JR, and Stefánsson K. A genome-wide search for endometriosis genes in Icelandic patients. The American Journal of Human Genetics 63(4), A1793, 1998. 68. Karason A, Gulcher JR, Guðjónsson JE, Kong A, Frigge M, Snorradóttir S, Björnsdóttir S, Reed E, Rúnarsdóttir EH, Ólafsdóttir EB, Nicolae R, Stefánsson K, Valdimarsson H. A genome-wide scan for psoriasis genes in Icelandic kindreds. The American Journal of Human Genetics 63(4) A1911, 1998.
  • 43. 69. Jónasdóttir A, Jónasdóttir A, Kristjánsson K, Stefánsson K, Gulcher JR. Hereditary multiple exostoses: A report of a family with a novel splice site mutation in the EXT1 gene and evidence of exon skipping. The American Journal of Human Genetics 63(4), A2122, 1998. 70. Gulcher JR, and Stefánsson K. The proposed anonymous Icelandic healthcare database: risks and benefits. The American Journal of Human Genetics 65 (4), A57, 1999. 71. Grant SF, Kristjansdottir H, Steinsson K, Blondal T, Yuryev A, Stefansson K, Gulcher J Long-range PCR detection of a C4A null allele associated with Systemic Lupus Erythematosus. 20th Icelandic Biological Society, Reykjavik, Iceland 1999 72. Gretarsdottir S, Sveinbjornsdottir S, Jakobsson F, Agnarsson U, Einarsdottir E, Gudjonsdottir HM, Jonsson H, Einarsson O, Hadzic R, Reynisdottir S, Gudmundsdottir Th, Kong A, Gulcher J, Gudnason V, Stefansson K Leit að arfgengum áhættuþáttum heilablóðfalls Conference of the Biological Society of Iceland 1999 73. Frigge ML, Gudbjartsson DF, Gudmundsson H, Stefansson K Longevity in Iceland: Fertility and Genetics ASHG Meeting 1999 74. Grant SF, Frigge M, Thorsteinsson J, Gunnlaugsdottir B, Geirsson A, Vikingsson A, Erlendsson K, Oskarsson D, Kong A, Gulcher J, Stefansson K, Steinsson K The Inheritance of Rheumatoid Arthritis in Iceland Am J Hum Genet 65 (4): A203 1999 75. Hakonarson H, Bjornsdottir US, Kristjansson K, Gulcher J, Ostermann E, Valiant C, Carpenter K, Gislason T, Gislason D, Gudnadottir A, Stefansson K Allelic association and frequency of polymorphisms of the ADRB2 and CD14 genes in Icelanders with moderate to severe atopic asthma Program Nr: 1407 from the 1999 ASHG Annual Meeting ASHG Annual Meeting 1999 76. Helgadottir A, Petursson H, Kong A, Gulcher J, Frigge M, Gudnason V, Stefansson K Familial clustering of myocardial infarction in the Icelandic population: Evidence for genetic components Am J Hum Genet 65: Suppl, . 1128, 1999. 77. Jonsson Th, Helgadottir HR, Petursson H, Magnusdottir E, Thorisson G, Jonsson S, Palsson S, Palmason H, Grondal H, Jonsson P, Bjornsson S, Gulcher J, Snaedal J, Stefansson K Rannsókn á arfgengi elliglapa og tíðni apolipopróteins E samsæta í íslenskum fjölskyldum með Alzheimer sjúkdóm og önnur vitglöp Líffræðiráðstefna 1999 78. Sainz J, Gudjonsson S, Traustason O, Magnusson H, Arnason G, Benediktsson K, Ludviksson G, Stefansson K, Gulcher J Automated method to construct high- throughput BAC physical maps. Am J Hum Genet 65 Suppl, .A418, 1999 ASHG Meeting 1999
  • 44. 79. Kristjánsson KT, Valdimarsson RT, Gulcher JR, Guðbjartsson H, and Stefánsson K. Genetic research on anonymous samples and data-benefist exceeding impediments. The American Journal of Human Genetics 65 (4), A218, 1999 80. Hicks A, Jónsson Þ, Pétursson H, Sveinbjörnsdóttir S, Gulcher JR, and Stefánsson K. A genealogic study of Parkinson´s Disease in late-onset diseases. The American Journal of Human Genetics 65 (4), A1531, 1999. 81. Helgadottir A, Petursson H, Thorsson B, Frigge M, Kong A, Thorgeirsson G, Gulcher J, Gudnason V, Stefansson K Ættgengi kransæðastíflu á Íslandi Lyflæknaþing Egilsstöðum 2000 82. Jonsson T, Magnusdottir E, Helgadottir HR, Petursson H, Jonson A, Thorisson G, Jonsson P, Bjornsson S, Palsson S, Palmason H, Grondal H, Moller M, Gulcher J, Snaedal J, Stefansson K Contribution of ApoE 4 as a risk factor for Alzheimer's disease in Iceland 15th Nordic Gerontological Congress 2000 83. Jonsson Th, Magnusdottir E, Helgadottir HR, Petursson H, Thorisson G, Jonsson S, Jonsdottir SL, Bjorgvinsdottir I, Palsson S, Palmason H, Grondal H, Muller M, Jonsson PV, Bjornsson S, Snaedal J, Gulcher J, Stefansson K Contribution of ApoE as a risk factor for Alzheimer's disease in Iceland Proceedings of World Alzheimer Congress 2000 84. Snaedal J, Jonsson T, Bjornsson S, Jonsson PV, Jonsson A, Palsson S, Palmason H, Helgadottir H, Magnusdottir E, Petursson H, Gulcher J, Stefansson K A population study on the genetics of senile dementia of Alzheimer's type in Iceland NorAge, Odense, Denmark 2000 85. Geirsson RT, A Einarsdóttir, Gudnason GA, Stefansson H, Ingadóttir G, Gudnadóttir VG, Gunnarsdóttir S, Thorsteinsdottir SS, Steinthorsdottir V, Runarsdottir H, Frigge M, Kong A, Gulcher J, Stefansson K Neither linkage nor association to the GALT gene on chromosome 9 in Icelandic endometriosis patients Endometriosis, The 7th World Congress on Endometriosis 2000 86. Gretarsdottir S, Jonsson H, Kong A, Frigge M, Einarsdottir E, Skholny D, Gudjonsdottir H, Einarsson O, Hadzic R, Jonsdottir S, Reynisdottir ST, Bjarnadottir SM, Gudmundsdottir Th, Sainz J, Hannesson H, Sigurdsson GT, Sveinbjornsdottir S, Einarsson G, Jakobsson F, Valdimarsson EM, Agnarsson U, Thorgeirsson G, Gudnason V, Stefansson K, Gulcher J A genome wide search for genetic risk factors in Icelandic stroke patients. Am J Hum Genet supplement 2, volume 67 The American Society of Human Genetics Annual Meeting, October 2000 87. Hakonarson H, Ostermann E, Bjornsdottir US, Arnason T, Gudnadottir SA, Gulcher J, Kristjansson K, Gislason T, Gislason D, Stefansson K Allelic frequencies and patterns of single nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland Program Nr: 1865 from the 2000 ASHG Annual Meeting ASHG Annual Meeting 2000
  • 45. 88. Sainz J, Gudjonsson S, Hauksson J, Magnusson H, Arnadottir J, Mylonas K, Vidarsdottir N, Traustason O, Ingjaldsson H, Juliusson E, Stefansson K, Gulcher J Chromosomal Assignment: A low resolution BAC map of the human genome.Am J Hum Genet 67: Suppl 270, 2000 ASHG Meeting 2000 89. Stefansson H, Geirsson RT, Jonsson H, Steinthorsdottir V, Gulcher J, Stefansson K Familial clustering of endometriosis evident from a population based study Endometriosis, The 7th World Congress on Endometriosis 2000 90. Styrkarsdottir U, Gudjonsdottir K, Johannsdottir V, Jonasson K, Grant SF, Thors H, Stefansson K, Gulcher J, Sigurdsson G The Sp1 polymorphism in the COLIA1 gene is not associated with BMD or osteoporosis related fractures in the Icelandic population J. Bone Miner Research 15, Suppl 1, SU133 (p36 (2000) American Society of Bone and Mineral Research, Toronto, Ontario, Canada 2000 91. Styrkarsdottir U, Johannsdottir VD, Gudjonsdottir KH, Jonasson K, Thors H, Stefansson K, Gulcher J, Sigurdsson G Lack of Association between Intragenic Markers of Six Candidate Genes and Osteoporosis in Iceland. J. Bone Miner Research 15, Suppl 1, SU134 (p364). American Society of Bone and Mineral Research, Toronto, Ontario, Canada 2000 92. Styrkarsdottir U, Jonasson K, Johannsdottir VD, Gudjonsdottir KH, Erlingsdottir HS, Oscarson S, Gulcher J, Stefansson K, Sigurdsson G Evidence for a locus of a major osteoporosis gene in an Icelandic linkage study. Bone 28, Suppl 5, OR10, S72 International Bone and Mineral Society and the European Cacified Tissue Society, Madrid, Spain 2001 93. Emilsson V, Halldorsson S, Thorleifsson G, Benediktsson R, Sigurdsson G, Kong A, Stefansson K, Gulcher J, Gudnason V, Reynisdottir I Variations in the CAPN10 gene associate with non-insulin dependent diabetes in Icelanders Am J Hum Genet 2001 94. Geirsson RT, Stefansson H, Jonsdottir K, Sverrisdottir G, Gudnason GA, Einarsdottir A, Ingadottir G, Gudnadottir VG, Gunnarsdottir SG, Thorsteinsdottir SS, Steinthorsdottir V, Runarsdottir H, Frigge M, Kong A, Gulcher J, Stefansson K Linkage or association to the GALT gene on chromosome 9 not demonstrable in endometriosis 1st Nordic Congress on Endometriosis, Stockholm 2001 95. Geirsson RT, Stefansson H, Jonsdottir K, Sverrisdottir G, Gudnason GA, Einarsdottir A, Ingadottir G, Gudnadottir VG, Gunnarsdottir SG, Thorsteinsdottir SS, Steinthorsdottir V, Runarsdottir H, Frigge M, Kong A, Gulcher J, Stefansson K Linkage or association to the GALT gene on chromosome 9 not demonstrable in endometriosis. Lietvos akuserija ir ginekologija. Thing lithaiskra faedinga- og kvensjukdomalaekna, Vilnius, Lithaen, .September 2001. 96. Geirsson RT, Stefansson H, Jonsdottir K, Sverrisdottir G, Gudnason GA, Einarsdottir A, Ingadottir G, Gudnadottir VG, Gunnarsdottir SG,
  • 46. Thorsteinsdottir SS, Steinthorsdottir V, Runarsdottir H, Frigge M, Kong A, Gulcher J, Stefansson K Linkage or association to the GALT gene on chromosome 9 not demonstrable in endometriosis Lietvos akuserija ir ginekologija. Thing lithaiskra faedinga- og kvensjukdomalaekna, Vilnius, Lithaen, .September 2001. 97. Stefánsson K, Kong A, Gulcher JR. The genealogic approach to complex genetic diseases. The American Journal of Human Genetics 67 (4), 313, 2000. 98. Grétarsdóttir S, Jónsson H, Kong A, Frigge M, Guðjónsdóttir H, Einarsson Ó, Jónsdóttir S, Reynisdóttir S, Bjarnadóttir SM, Guðmundsdóttir Þ, Sainz J, Sveinbjörnsdóttir S, Einarsson G, Jakobsson F, Valdimarsson EM, Agnarsson U, Þorgeirsson G, Guðnason V, Stefánsson K, Gulcher JR. A genome wide search for genetic risk factors in Icelandic stroke patients. The American Journal of Human Genetics 67(4), 321, 2000. 99. Karason A, Kong A, Frigge M, Snorradóttir S, Nahmias J, Ólafsdóttir, Rúnarsdóttir H, AntonsdóttirA, Jónsdóttir K, Hauksson V, Nicolae R, Guðjónsson J, Jónsdóttir S, Gulcher JR, Valdimarsson H, and Stefánsson K. A search for psoriasis gene in the Icelandic population. The American Journal of Human Genetics 67 (4), 47, 2000. 100.Kristjánsson K, Kristinsson A, Manolescu A, Harðarson Þ, Knudsen H, Ingson S, Kong A, Gulcher J, and Stefánsson K. A genome-wide linkage scan for essential hypertion. The American Journal of Human Genetics 69 (4) 502. 101.Gretarsdottir S, Sveinbjornsdottir S, Jonsson H, Jakobsson F, Einarsdottir E, Agnarsson U, Gudjonsdottir HM, Einarsson G, Einarsson OB, Hadziz R, Valdimarsson EM, Jonsdottir S, Thorgeirsson G, Reynisdottir ST, Bjarnadottir SM, Gudmundsdottir T, Sainz J, Kong A, Frigge M, Gudnason V, Stefansson K, Gulcher J Leit að arfgengum áhættuþáttum heilablóðfalls Læknablaðið 86 (40), E99 (2001) Ráðstefna Læknadeildar 2001 102.Hakonarson H, Bjornsdottir US, Halapi E, Zink F, Helgadottir H, Bjarkarson I, Arnason T, Thorarinsson F, Gudmundsdottir AS, Ingvarsson S, Amundadottir L, Andresdottir M, Adalsteinsdottir EA, Gislason D, Gislason T, Gurney M, Gulcher J, Stefansson K Pharmacogenomics study of glucocorticoid sensitive and resistant asthma predicts glucocorticoid responsiveness with high accuracy Program Nr: 1366 from the 2001 ASHG Annual Meeting ASHG Annual Meeting 2001 103.Hakonarson H, Halapi E, Gulcher J, Stefansson K, Grunstein MM Analysis Of Glucocorticoid-Sensitive, Cytokine-Induced Changes In Gene Array Expression In Airway Smooth Muscle (ASM) Coupled To Changes In Agonist Responsiveness 2001 Meeting of the American Thoracic Society 2001. 104.Kong A, Gudbjartsson DF, Jonsdottir GM, Frigge M, Gudjonsson SA, J. Sainz, Thorgeirsson TE, Hallbeck B, Sigurdardottir S, Gulcher J, Stefansson K A Higher Resolution Genetic Map ASHG Meeting 2001
  • 47. 105.Sainz J, Agnarsson K, Einarsson S, Gonzalez E, Gudjonsson S, Palsson S, Shlien A, Young T, Gudbjartsson D, Jonsdottir G, Frigge M, Stefansson K, Gulcher J, Kong A. A Higher Resolution Recombination Map of the Human Genome Human Genome Meeting 2001 106.Sainz J, Gudjonsson S, Agnarsson K, Atladottir O, Benitez U, Einarsson S, Gonzalez E, Traustason O, Palsson S, Sigurdsson G, Kong A, Stefansson K, Gulcher J Human physical map version 05 and discrepancies with the UCSC sequence draft assembly Am J Hum Genet 69: Suppl, 467, 2001. ASHG Meeting 2001. 107.Sainz J, Gudjonsson S, Sigurdsson G, Agnarsson K, Atladottir O, Benitez U, Einarsson S, Magnusson H, Mylonas K, Thorisson G, Oskarsson D, Stefansson K, Gulcher J Automatic method to construct complete genome high-resolution physical maps integrating data from different sources. The European Journal of Human Genetics 9 Suppl, 327. 2001. ASHG Meeting 2001. 108.Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K Genetic factors contributing to the risk of endometriosis: data from a population-based study. Abstractbook, nr. 31. 1st Nordic Congress on Endometriosis, Stockholm 2001. 109.Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K Genetic factors contributing to the risk of endometriosis: data from a population-based study. Abstractbook S59, bls. 281 Lietvos akuserija ir ginekologija. Thing lithaiskra faedinga- og kvensjukdomalaekna, Vilnius, Lithaen, september 2001. 110.Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K Genetic factors contributing to the risk of endometriosis: data from a population-based study Abstractbook S59, bls. 281 Lietvos akuserija ir ginekologija. Thing lithaiskra faedinga- og kvensjukdomalaekna, Vilnius, Lithaen, .September 2001. 111.Grant SF, Sainz J, Smith AV, Shaw-Hawkins S, Gulcher J, Stefansson K Public Domain SNP Selection: Increased likelihood of an informative marker in Iceland with increased submitter number SNP, Reykjavik, Iceland 2002 112.Gretarsdottir S, Sveinbjornsdottir S, Jonsson H, Jakobsson F, Einarsdottir E, Agnarsson U, Skholny D, Einarsson G, Gudjonsdottir HM, Valdimarsson EM, Einarsson OB, Thorgeirsson G, Hadzic R, Jonsdottir S, Reynisdottir ST, Bjarnadottir SM, Gudmundsdottir Th, Gudlaugsdottir GJ, Gill R, Lindpaintner K, Sainz J, Hannesson H, Sigurdsson GT, Frigge M, Kong A, Gudnason V, Stefansson K, Gulcher J Localization of a susceptibility gene for common forms of stroke Scandinavian Neurology Congress, Reykjavik, Iceland 2002 113.Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, AE Adalsteinsdottir, Gislason D, Helgadottir H, Finnbogason G, Gislason T, Arnason T, Birkisson I,
  • 48. Frigge M, Kong A, Gulcher J, Stefansson K Major Susceptibility Gene For Asthma Maps To Chromosome 14q24 ATS 2002 114.Hakonarson H, Halapi E, Bjornsdottir US, Upmanyu R, Soebech E, Gislason D, Adalsteinsdottir AE, Finnbogason G, Gislason T, Frigge ML, Kong A, Gulcher JR, Stefansson K Genome-wide search in asthma and atopy patients identifies multiple loci of genome-wide significance Program Nr: 139 from 2002 ASHG Annual Meeting ASHG Annual Meeting 2002 115.Sainz J, Gudjonsson SA, Hreggvidsson GM, Rovensky P, aemundsson A, Stefansson K, Gulcher J Analysis of Segmental Duplications in the Human and Mouse Genomes. Human Genome Meeting 2002 116.Steinthorsdottir V, Hjartardottir S, Geirsson RT, Gulcher J, Stefansson K Genetics of hypertension in pregnancy: a follow up study on Icelandic patients Hypert Pregn 2002;21, Supplement 1:125. 13th World Congress of the International Society for the Study of Hypertension in Pregnancy, Toronto, Canada 2.-5. juni 2002 117.Steinthorsdottir V, Hjartardottir S, Geirsson RT, Jonsdottir GM, Gulcher J, Stefansson K Erfðir háþrýstings á meðgöngu: framhaldsrannsókn á íslenskum sjúklingum. Læknablaðið 88:Fylgrit 47, 2002. 118.Thorsteinsson L, Sigvaldason A, Halapi E, Gislason T, Laufs J, Oscarsson S, Gulcher J, Stefansson K, Hakonarson H Inheritance And Inflammatory Markers Of COPD In Iceland. Meeting of the American Thoracic Society 2002 119.Grétarsdóttir S, Þorleifsson G, Manolescu A, Jónsdóttir S, Reynisdóttir S Th, Guðjónsdóttir HM, Jónsdóttir Þ, Guðmundsdóttir H, Guðmundsson G, Sveinbjörnsdóttir S, Valdimarsson E, Jakobsson F, Agnarsson U, Guðnason V, Þorgeirsson G, Gurney M, Frigge M, Kong A, Stefánsson K, Gulcher JR. Isolation of a gene for common forms of stroke. American Journal of Human Genetics (71): 164, 2002. 120.Stefánsson H, Björnsdóttir S, Sigmundsson T, Bryndjólfsson J, Guðmundsdóttir E, Gunnarsdóttir S, Ívarsson O, Mute V, Harvey R, Björnsson A, Sigfússon S, Lemke G, Frigge M, Gurney M, Kong A, Gulcher J, Pétursson H, Stefánsson K. Neuregulin 1 and susceptibility to schizophrenia. American Journal of Human Genetics (71) 185, 2002. 121.Hákonarson H, Halapi E, Björnsdóttir US, Upmanyu R, Soebech E, Gíslason D, Aðalsteinsdóttir AE, Finnbogason G, Gíslason Þ, Frigge M, Kong A, Gulcher JR, and Stefánsson K. Genome-wide search is athma and atopy patients identifies multiple loci of genome-wide significance. American Journal of Human Genetics (71) 191, 2002. 122.Þorgeirsson ÞE, Óskarsson H, Desnica N, Kostic JP, Stefánsson JG, Kolbeinsson H, Líndal E, Gagunashvili N, Frigge MF, Kon A, Stefánsson K,
  • 49. and Gulcher JR. Genome-wide significant linkage to chromosome 9 for panic disorder and anxiety in Iceland. American Journal of Human Genetics (71), 216, 2002. 123.Barnard J, Guðbjartsson DF, Sainz J, Jónsdóttir G, Gujónsson SA, Richardsson B, Sigurðardóttir S, Hallbeck B, Másson G, Shlien A, Pálsson S, Frigge M, Þorgeirsson Þ, Amundadottir L, Thorvaldsson S, Sulem P, Thorsteinsdottir U, Kristjansson K, Arnason S, Frigge M, Kong A, Bjornsson J, Gulcher J, Stefansson K Cancer as a complex phenotype - Patterns of cancer distribution beyond the nuclear family 2003 ASHG Meeting 2003. 124.Bergthorsson JT, Agnarsson BA, Gudbjartsson T, Einarsson GV, Thoroddsen A, Magnusson K, Gulcher J, Stefansson K, Barkardottir RB, Amundadottir L Kortlagning á óstöðugleika í erfðamengi eistnakrabbameinsæxla Ársþing Skurðlæknafélags Íslands og Svæfinga- og gjörgæslulæknafélags Íslands. 8.-9. maí 2003. 125.Gretarsdottir S, Thorleifsson G, Manolescu A, Jonsdottir S, Reynisdottir ST, Einarsson OB, Gudmundsdottir Th, Gudjonsdottir HM, Jonsdottir Th, Bjarnadottir SM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Sigurdardottir M, Chou TT, Fridleifsson S, Helgason Th, Olafsson O, Sveinbjornsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Acuna G, Gurney M, Frigge M, Kong A, Stefansson K, Gulcher J Isolation of STRK1 gene. Meeting of Dutch Society of Human Genetics, Veldhoven, Netherlands 2003 126.Styrkarsdottir U, Cazier JB, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Bagger Y, Christiansen C, Jonasson K, Frigge M, Kong A, Gulcher J, Sigurdsson G, Stefansson K The Bone Morphogenetic Protein 2 Gene Contributes to Bone Density and Osteoporotic Fractures Am J Hum Genet 73, Suppl., 52. American Society of Human Genetics, Los Angeles, USA 2003 127.Styrkarsdottir U, Cazier JB, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Jonasson K, Frigge M, Kong A, Gulcher J, Sigurdsson G, Stefansson K Linkage and Haplotype Analysis in Icelandic Osteoporotic Families Identify a Susceptibility Gene for Osteoporosis. Calcified Tissue International OC01 International Workshop on the Genetics of Bone Disease, Davos, Sviss 2003 128.Styrkarsdottir U, Cazier JB, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Jonasson K, Frigge M, Kong A, Gulcher J, Sigurdsson G, Stefansson K The Bone Morphogenetic Protein 2 Gene Contributes to Bone Density and Osteoporotic Fractures J. Bone Miner Research 18, Suppl 2, 1082. American Society of Bone and Mineral Research, Minneapolis, USA 2003 Cancer as a complex phenotype - Patterns of cancer distribution beyond the nuclear family Am J Hum Genet 73: Suppl, . 243, 2003. 129.Bergthorsson JT, Agnarsson BA, Gudbjartsson T, Einarsson GV, Thoroddsen A, Magnusson K, Gulcher J, Stefansson K, Barkardottir RB, Amundadottir L
  • 50. 2003 Kortlagning á óstöðugleika í erfðamengi eistnakrabbameinsæxla Landspítali Háskólasjúkrahús - Vísindi á vordögum 12.-13. mai 2003 130.Bergthorsson JT, Agnarsson BA, Gudbjartsson T, Magnusson K, Thoroddsen A, Stefansson K, Gulcher J, Einarsson GV, Barkardottir RB, Amundadottir L Genome-wide mapping of chromosome imbalances in human testicular cancer using microsatellite markers Proc. Amer. Assoc. Cancer Res. (2nd ed.), 44: R6069 2003 131.Hakonarson H, Halapi E, Sigvaldason A, Jonsson H, Gislason T, Laufs J, Thorsteinsson L, Soebeck E, Gudnason V, Andrason H, Oskarsson S, Frigge M, Kong A, Gulcher J, Stefansson K A Linkage Study In Heavy Smokers Suggests The Presence Of Both Causative And Protective Genes For Chronic Obstructive Pulmonary Disease ASHG Meeting 2003 132.Helgadottir A, Thorsson B, Thorleifsson G, Sigurdsson G, Gulcher J, Gudnason V, Stefansson K A genome wide scan for hypertriglyceridemia loci in a large Icelandic cohort maps a gene to chromosome 10p Am J Hum Genet 73: Suppl, . 1811, 2003. 133.Kong A, Barnard J, Gudbjartsson DF, Thorleifsson G, Jonsdottir G, Sigurdardottir S, Richardsson B, Palsdottir J, Thorgeirsson T, Frigge ML, Lamb N, Sherman S, Gulcher JR, Stefansson K Recombination rate and reproductive success in humans Am J Hum Genet ASHG Meeting 2003 134.Sainz J, Rovensky P, Gudjonsson SA, Stefansson K, Gulcher J Comparison of Segmental Duplication Content and Organization in Three Mouse and Three Human Genome Assemblies. Human Genome meeting 2003 135.Lopez-Correa C,Thorgeirsson TE,Oskarsson H,Desnica N,Bjornsdottir S,Sigurdardottir S,Sainz J,Stefansson K,Gulcher J. Genomic Duplication in 15q24 and Panic Disorder in the Icelandic Population. HUGO HGM 2003 136.Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K Erfðafræðilegir þættir sem hafa áhrif á legslímuflakk Læknablaðið 2002, Fylgirit 47:54, V01. 11. Ráðstefna um rannsóknir í Læknadeild, lyfjafræðideild og tannlæknadeild HÍ, Reykjavik, 3-4. janúar 2003. 137.Thorsteinsdottir U, Jonsson S, Jonsson HH, Kong A, Gudbjartsson D, Kristjansson K, Arnason S, Isaksson HJ, Hallgrimsson J, Gulcher J, Amundadottir L, Stefansson K Familial risk of lung carcinoma in the Icelandic population Am J Hum Genet 73: Suppl, . 243, 2003. 138.Sveinbjornsdottir S, Hicks AA, Petursson H, Jonsson T, Gudmundsson G, Frigge ML, Gulcher J, Stefansson K. Is there a genetic anticipation in Parkinson ´s Disease? Conference on Parkinsons and Alzheimers disease Spain 2003. 139.Sveinbjornsdottir S, Hicks AA, Jonsson T, Petursson H, Kong A, Gulcher J, Stefansson K. A clinical comparison of Icelandic familial Parkinson’s Disease
  • 51. patients who contribute to a locus on chromosome 1p32 and those who don’t. Icelandic Medical conference 2003 140.Lopez-Correa C, Bjornsdottir S, Matthiasdottir S, Oskarsson H, Stefansson JG, Kolbeinsson H, Lindal E, Desnica N, Gudfinnsson E, Frigge M, Kong A, Thorgeirsson TE, Stefansson K, Gulcher J 8p23 Inversion polymorphism associated with Panic disorder in Iceland HUGO HGM 2004 141.Grant SF, Reynisdottir I, Thorleifsson G, Schmitt I, Martin M, Benediktsson R, Vrang J, Cazier JB, Linn MJ, Dutta S, Christ AD, Amrein KE, Emilsson V, Sigurdsson G, Thorsteinsdottir U, Gudnason V, Kong A, Gurney M, Gulcher J, Stefansson K Isolation of a gene located on chromosome 5q34-q35.2 conferring risk of type 2 diabetes mellitus American Society of Human Genetics, Toronto, Canada 2004 142.Gretarsdottir S, Thorleifsson G, Manolescu A, Jonsdottir S, Reynisdottir ST, Einarsson OB, Gudmundsdottir Th, Gudjonsdottir HM, Jonsdottir Th, Bjarnadottir SM, Hawkins M, Gudmundsson G, Gudmundsdottir H, Sigurdardottir M, Chou TT, Fridleifsson S, Helgason Th, Olafsson O, Sveinbjornsdottir S, Valdimarsson EM, Jakobsson F, Agnarsson U, Gudnason V, Thorgeirsson G, Fingerle J, Acuna G, Gurney M, Frigge M, Kong A, Stefansson K, Gulcher J Isolation of a gene for common forms of stroke American Society of Human Genetics Annual Meeting, Baltimore, Maryland, USA 2004. 143.Benediktsson R, Jonsdottir AM, Einarsdottir AS, Reynisdottir I, Aspelund T, Grant SF, Thorleifsson G, Sigurdsson G, Stefansson K, Gudnason V Prevalence and phenotype of LADA in Icelandic Type 2 Diabetics European Association for the Study of Diabetes, Munich, Germany 2004 144.Bergthorsson JT, Gudbjartsson T, Thorvaldsson S, Agnarsson BA, Thoroddsen A, Bjornsson J, Magnusson K, Stefansson K, Gulcher J, Einarsson GV, Barkardottir RB, Amundadottir L Family clustering of Icelandic testicular carcinoma patients and occurrence of other cancer types in their relatives - A population based study American association for Cancer Research 45: Suppl, . 1329 2004. 145.Cazier JB, Gudbjartsson DF, Stefansson M, Kong A GARFIELD: A Graphical Analysis and Reorganizing Interface for Linkage Disequilibrium Am J Hum Genet ASHG 2004 146.Gretarsdottir S, Helgadottir A, Clair DSt, Manolescu A, Cheung J, Thorleifsson G, Pasdar A, Thorsteinsdottir U, Grant SF, Kong A, Gulcher J, Stefansson K, MacLeod MJ Replication study of PDE4D and ALOX5AP gene variants in a Scottish Stroke population. Am J Hum Genet American Association of Human Genetics Annual Meeting. Toronto, Canada 2004 Poster
  • 52. 147.Gretarsdottir S, Sveinbjornsdottir S, Jonsson H, Jakobsson F, Einarsdottir E, Agnarsson U, Gudjonsdottir HM, Einarsson G, Einarsson OB, Hadzic R, Valdimarsson EM, Jonsdottir S, Thorgeirsson G, Reynisdottir I, Bjarnadottir SM, Thorunn Gudmundsdottir, Sainz J, Kong A, Frigge M, Gudnason V, Stefansson K, Gulcher J Læknablaðið 86 (40), E99 Ráðstefna Læknadeildar 2004, Reykjavík, Ísland 2004 148.Gudmundsson J, Helgason A, Sulem P, Johannsson O, Sigurdsson H, Hrafnkelsson J, Johannsson J, Gulcher J, Thorsteinsdottir U, Stacey S, Amundadottir L, Stefansson K Geographic Stratification in the Ancestry of Breast Cancer Patients and Carriers of the BRCA2-999del5 Founder Mutation in Iceland. American Society of Human Genetics, October, 2004 149.Hakonarson H, Halapi E, Sigvaldason A, Jonsson H, Gislason T, Andrason H, Kong A, Gulcher J, Stefansson K A Linkage Study in Heavy Smokers Identifies Both Causative and Protective Genes for Chronic Obstructive Pulmonary Disease. (Abstract Page: A506) 100th ATS 2004, Mini symposium. 2004 150.Halapi E, Bjornsdottir US, Upmanyu R, Jonsson H, Soebech E, Gislason D, Kristinsson S, Gislason T, Kong A, Gulcher J, Stefansson K, Hakonarson H Genome-Wide Search in Asthma and Atopy Patients in Iceland Identifies Multiple Loci of Genome-Wide Significance but Fails To Identify Linkage or Association to the ADAM33 Locus on chr 20p. ATS 2004 151.Hjartardottir S, Steinthorsdottir V, Geirsson RT, Jonsdottir G, Gulcher J, Stefansson K Genetics of hypertension in pregnancy: A follow up study on Icelandic patients' risk Helsinki, Finland, 12.15. juni 2004, abstractbook 317 XXXIV. Congress of Nordic Federation of Societies of Obstetrics and Gynecology 2004. 152.Hicks AA, Rye DB, Kristjansson K, Sigmundsson T, Sigurdsson AP, Eiriksdottir I, Stefansson H, Bliwise D, Gulcher J, Stefansson K, Hakonarson H. Population-based confirmation of the 12q RLS locus in Iceland. Movement Disorders Meeting: New Orleans, March 2005. 153.Stefansson H, Ingason A, Halldorsson J, Thorleifsson G, Thorlacius T, Rolfsson O, Bjornsdottir H, Sveinbjornsdottir G, Richardsson B, Kristjánsson K, Kong A, Thorsteinsdottir U, Gulcher J, Stefansson K. Dyslexia gene identified in an Icelandic sample. ASHG 2005. 154.Stacey SN, Sulem P, Helgason A, Johansson OT, Gudmundsson J, Bergthorsson JT, Amundadottir L, Kristjansson K, Thorsteinsdottir U, Kong A, Gulcher JR, Stefansson K. The BARD1 Cys557Ser Variant Confers Susceptibility to Breast Cancer in Carriers of BRCA2 999del5 and Increases Risk for Multiple Primary Breast Tumours. ASHG 2005.
  • 53. 155.Magnusson KP, Duan S, Petursson H, Sigurdsson H, Yang Z, Zhao Y, Bernstein PS, Ge J, Jonasson F, Stefansson E, Helgadottir G, Jonsson T, Thorlacius T, Thorleifsson G, Kong A, Stefansson H, Gulcher JR, Zhang K, Stefansson K. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. ASHG 2005. 156.Jonsson T, Thorlacius T, Petursson H, Bjornsson S, Jonsson PV, Levey A, Snaedal J, Kong1 A, Gulcher JR, Stefansson K. Haplotypes over the APP gene that influence risk of Alzheimer’s disease in women. ASHG 2005. 157.Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir V, Gudbjartsson D, Gretarsdottir S, Magnusson KP, Hicks A, Grant SFA, Levey AI, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Gulcher JR, Hakonarson H, Kong A, Stefansson K. A variant of the gene encoding Leukotriene A4 Hydrolase confers ethnic specific risk of myocardial infarction. ASHG 2005. 158.Reynisdóttir I, Grant SFA, Schmitt I, Þorleifsson G, Benediktsson R, Martin M, Vrang J, Halldórsson S, Bolladóttir T, T Johansson T, Guðmundsdóttir BT, Cazier J-B, Christ AD, Sigurðsson G, Þorsteinsdóttir U, Andrésson T Guðnason V, Kong A, Stefánsson K, Gulcher JR, Gurney ME. KChIP1 gene confers risk of T2DM through insulin. SSSD 2006. 159.Reynisdottir I, Schmitt I, Vrang J, Halldorsson S, Johansson T, Gudmundsdottir BT, Grant SFA, Martin M, Christ AD, Stefansson K, Gurney ME. The Kv- channel interacting protein 1 (KChIP1) reduces glucose stimulated insulin secretion in INS1 rat pancreatic β-cells by increasing the rate of repolarization. ADA 2006.