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Jurg Ott's Publications

Jurg Ott, PhD

Updated 12 March 2024


  1. Ott J (1999) Analysis of Human Genetic Linkage, 3rd edition. Johns Hopkins University Press, Baltimore, 382 pages. Japanese translation of first edition: Soft Science, Tokyo, 1987

  2. Terwilliger JD, Ott J (1994) Handbook of Human Genetic Linkage. Johns Hopkins University Press, Baltimore; now online


  1. Ott J (1968) Natural reproductive isolation between Sorex gemellus sp.n. and Sorex araneus Linnaeus 1758 in Switzerland (Mammalia, Insectivora) (in German with English summary). Rev suisse Zool 75, 53-75

  2. Heusser H, Ott J (1968) Wanderzeit und populationsspezifische Sollzeit der Laichwanderung bei der Erdkröte, Bufo bufo (L.). Rev Suisse Zool 75, 1005-1022

  3. Ott J, Olert J (1970) Color differences between Sorex araneus Linnaeus 1758 and Sorex gemellus Ott 1968 (Mammalia, Insectivora) (in German with English summary). Rev suisse Zool 77, 283-291

  4. Wehner R, Ott J (1972) Capability of honeybees to discriminate certain patterns (in German with English summary). Rev suisse Zool 79, 843-860


  5. Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26, 588-597

  6. Ott J, Schrott HG, Goldstein JL, Hazzard WR, Allen FH Jr, Falk CT, Motulsky AG (1974) Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet 26, 598-603

  7. Bremner WJ, Ott J, Moore DJ, Paulsen CA (1974) Reifenstein's syndrome: Investigation of linkage to X-chromosomal loci. Clin Genet 6, 216-220

  8. Ott J, Goldstein JL, Harrod MJ (1975) Linkage investigation of a large family with Reifenstein's syndrome. Clin Genet 7, 342-344

  9. Weitkamp LR, Lovrien EW, Olaisen B, Fenger K, Gedde-Dahl Jr T, Sorensen SA, Conneally PM, Bias WB, Ott J (1975) Linkage relations of the loci for the MN blood group and red cell acid phosphatase. Cytogenet Cell Genet 14, 446-450

  10. Ott J, Kronmal RA (1976) Some classification procedures for multivariate binary data using orthogonal functions. J Am Statist Assoc 71, 391-399

  11. Ott J (1976) Note on the prior probability of autosomal linkage. Ann Hum Genet 39, 433-434

  12. Ott J, Hecht F, Linder D, Lovrien EW, Kaiser-McCaw B (1976) Human centromere mapping using teratoma data. Cytogenet Cell Genet 16, 396-398

  13. Ott J, Linder D, Kaiser-McCaw B, Lovrien EW, Hecht F (1976) Estimating distances from the centromere by means of benign ovarian teratomas in man. Ann Hum Genet 40, 191-196

  14. Ott J (1976) A computer program for linkage analysis of general human pedigrees. Am J Hum Genet 28, 528-529

  15. Ott J (1977) Counting methods (EM algorithm) in human pedigree analysis: linkage and segregation analysis. Ann Hum Genet 40, 443-454

  16. Kukolich MK, Telsey A, Ott J, Motulsky AG (1977) Sudden infant death syndrome: normal QT interval on ECG's of relatives. Pediatrics 60, 51-54

  17. Ott J (1977) Linkage analysis with misclassification at one locus. Clin Genet 12, 110-124

  18. Ott J (1978) Some statistical properties of the lod method and the method of scoring known recombination events in linkage analysis. Cytogenet Cell Genet 22, 702-705

  19. Ott J (1978) A simple scheme for the analysis of HLA linkages in pedigrees. Ann Hum Genet 42, 255-257

  20. Ott J (1979) Human gene mapping by postreduction and recombination frequencies under complete interference. Clin Genet 15, 11-16

  21. Ott J (1979) Maximum likelihood estimation by counting methods under polygenic and mixed models in human pedigrees. Am J Hum Genet 31, 161-175

  22. Ott J (1979) Detection of rare major genes in lipid levels. Hum Genet 51, 79-91

  23. Rossen RD, Brewer EJ, Sharp RM, Ott J, Templeton JW (1980) Familial rheumatoid arthritis - Linkage of HLA to disease susceptibility locus in four families where proband presented with juvenile rheumatoid arthritis. J Clin Invest 65, 629-642


  24. Ott J, Frater-Schröder M (1981) Absence of linkage between transcobalamin II and ABO. Hum Genet 59, 164-165

  25. Bird TD, Ott J, Giblett ER (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 34, 388-394

  26. Ott J, Falk CT (1982) Epistatic association and linkage analysis in human families. Hum Genet 62, 296-300

  27. Ott J (1983) Tag und Stunde der Geburt. Zürcher Statistische Nachrichten, pp. 155-162 [“Day and hour of birth in Zurich”, in German; a statistical treatment of city census data by means of circular distributions]

  28. Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47, 311-320

  29. Dyck PJ, Ott J, Moore SB, Swanson CJ, Lambert EH (1983) Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I. Mayo Clin Proc 58, 430-435

  30. Bird TD, Ott J, Giblett ER, Chance PF, Sumi SM, Kraft GH (1983) Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN-Type I). Ann Neurol 14, 679-684

  31. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81, 3443-3446

  32. Mensink EJBM, Schot JDL, Tippett P, Ott J, Schuurman RKB (1984) X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked. Hum Genet 68, 303-309

  33. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37, 482-498

  34. Ott J (1985) A chi-square test to distinguish allelic association from other causes of phenotypic association between two loci. Genet Epidemiol 2, 79-84

  35. Ott J (1985) Genetic Analysis Workshop III: Combining 2-point analyses under the constraints of a linear map and a constant female/male distance ratio. Genet Epidemiol 2, 217-218

  36. Ott J (1986) Y-linkage and pseudoautosomal linkage. Am J Hum Genet 38, 891-897

  37. Ott J (1986) The number of families required to detect or exclude linkage heterogeneity. Am J Hum Genet 39, 159-165

  38. Gallmann M, Frater-Schröder M, Scheffrahn W, Ott J, Schmid B, Bütler E, Biedermann V, Kierat L (1986) Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16. Clin Genet 29, 349-353

  39. Ott J, Mensink EJBM, Thompson A, Schot JDL, Schuurman RKB (1986) Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. Hum Genet 74, 280-283

  40. Beaudet A, Bowcock A, Buchwald M, Cavalli-Sforza LL, Farrall M, King M-C, Klinger K, Lalouel J-M, Lathrop G, Naylor S, Ott J, Tsui L-C, Wainwright B, Watkins P, White R, Williamson R (1986) Linkage of Cystic Fibrosis to two tightly linked markers: joint report from a collaborative study. Am J Hum Genet 39, 681-693

  41. Ott J (1986) Linkage probability and its approximate confidence interval under possible heterogeneity. Genet Epidemiol Suppl 1, 251-257

  42. Ott J, Lathrop GM (1987) Goodness of fit tests for locus order in three-point mapping. Genet Epidemiol 4, 51-57

  43. Lathrop GM, Chotai J, Ott J, Lalouel JM (1987) Tests of gene order from three-locus linkage data. Ann Hum Genet 51, 235-249

  44. Kwan S-P, Sandkuyl LA, Blaese M, Kunkel LM, Bruns G, Parmley R, Skarshaug S, Page DC, Ott J, Rosen FS (1988) Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics 3, 39-43

  45. Sandkuyl LA, Ott J (1989) Affective disorders: Evaluation of a three-allele model accounting for clinical heterogeneity. Genet Epidemiol 6, 265-269

  46. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL (1989) Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6 using multilocus linkage analysis. Am J Hum Genet 44, 255-263

  47. Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB (1989) Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature 338, 342-345

  48. Sandkuyl LA, Ott J (1989) Determining informativity of marker typing for genetic counseling in a pedigree. Hum Genet 82, 159-162

  49. Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86, 4175-4178

  50. Palotie A, Väisänen P, Ott J, Ryhänen L, Elima K, Vikkula M, Cheah K, Vuorio E, Peltonen L (1989) Predisposition to familial osteoarthrosis is linked to type II collagen gene. Lancet i, 924-927 (April 29)

  51. Ott J (1989) Statistical properties of the haplotype relative risk. Genet Epidemiol 6, 127-130

  52. Sankila E-M, Lehner T, Eriksson AW, Forsius H, Kärnä J, Page D, Ott J, de la Chapelle A (1989) Haplotype and multipoint linkage analysis in Finnish choroideremia families. Hum Genet 84, 66-70

  53. Weeks DE, Ott J (1989) Risk calculations under heterogeneity. Am J Hum Genet 45, 819-821

  54. Weeks DE, Ott J (1990) Reply to Dr. Carothers: Support intervals for genetic risks. Am J Hum Genet 47, 166

  55. Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D, Gal A, Humphries P, Jay B, Jay M, Litt M, Mächler M, Musarella M, Neugebauer M, Nussbaum RL, Terwilliger JD, Weleber RG, Wirth B, Wong F, Worton RG, Wright AF (1990) Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 87, 701-704

  56. Ikonen E, Palo J, Ott J, Gusella J, Somer H, Karila L, Palotie A, Peltonen L (1990) Huntington disease in Finland: Linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet 46, 5-11

  57. Kwan S-P, Terwilliger J, Parmley R, Raghu G, Sandkuyl LA, Ott J, Ochs H, Wedgwood R, Rosen F (1990) Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. Genomics 6, 238-242

  58. Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, Buchris V, Cremers FPM, Szabo P, White BN, Holden JJA, Ott J (1990) Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.1. Am J Hum Genet 47, 20-27

  59. Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J (1990) Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics 8, 286-296

  60. Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanova-Petrusewicz I, Ott J, Munsat TL, Gilliam TC (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344, 540-541

  61. Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, Dubowitz V, Munsat TL, Ott J, Davies KE (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345, 823-825

  62. Weeks DE, Lehner T, Squires-Wheeler E, Kaufmann C, Ott J (1990) Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis. Genet Epidemiol 7, 237-243

  63. Superti-Furga A, Steinmann B, Lee B, Ramirez F, Lehner T, Ott J, Gaucher A, Morreau P, Werhya G (1990) Autosomal dominant spondyloarthropathy: No linkage to the type II collagen gene. N Engl J Med 322, 552-553

  64. Ott J, Caesar J, Mächler M, Schinzel A, Schmid W (1990) Presymptomatic exclusion of myotonic dystrophy in a one-generation pedigree of half-sibs. Hum Hered 40, 305-307

  65. Baron M, Hamburger R, Sandkuyl LA, Risch N, Mandel B, Endicott J, Belmaker RH, Ott J (1990) The impact of phenotypic variation on genetic linkage analysis: application to X-linkage in manic-depressive illness. Acta Psychiatr Scand 82, 196-203


  66. Kwan S-P, Lehner T, Hagemann T, Lu B, Blaese M, Ochs H, Wedgwood R, Ott J, Craig IW, Rosen FS (1991) Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3. Genomics 10, 29-33

  67. Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M (1991) Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. Am J Med Genet 38, 140-146

  68. Passos-Bueno MR, Byth B, Love D, Terwilliger J, Ott J, Rapaport D, Vainzof M, Zatz M, Davies KE (1991) Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27. J Neurol Sci 102, 206-208

  69. Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK (1991) Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48, 486-91

  70. DeLisi LE, Crow TJ, Davies KE, Terwilliger JD, Ott J, Ram R, Flint T, Boccio A (1991) No genetic linkage detected for schizophrenia to Xq27-q28. Brit J Psychiatry 158, 630-634

  71. Mérette C, Lehner, T, Ott J (1991) Interpreting nonsignificant outcomes of heterogeneity tests in gene mapping. Am J Hum Genet 49, 1381-1384

  72. Moser HW, Moser AB, Smith KD, Bergin A, Boral J, Shankroff J, Stine OC, Mérette C, Ott J, Krivit W, Shapiro E (1992) Adrenoleukodystrophy: Phenotypic variability; implications for therapy. J Inher Metab Dis 15, 645-664

  73. Daniels RJ, Thomas NH, MacKinnon RN, Lehner T, Ott J, Flint TJ, Dubowitz V, Ignatius J, Donner M, Zerres K, Rietschel M, Cookson WOC, Brzustowicz LM, Gilliam TC, Davies KE (1992) Linkage analysis of spinal muscular atrophy. Genomics 12, 335-339

  74. Terwilliger JD, Ott J (1992) A multisample bootstrap approach to the estimation of maximized-over-models lod score distributions. Cytogenet Cell Genet 59, 142-144

  75. Vieland V, Greenberg DA, Hodge SE, Ott J (1992) Linkage analysis of two-locus diseases under single-locus and two-locus analysis models. Cytogenet Cell Genet 59, 145-146

  76. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H (1992) Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 50, 278-287

  77. Weeks DE, Lehner T, Ott J (1992) Preliminary ranking procedures for multilocus ordering based on radiation hybrid data. Cytogenet Cell Genet 59, 125-127

  78. Medori R, Tritschler H-J, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, Tinuper P, Avoni P, Mochi M, Baruzzi A, Hauw JJ, Ott J, Lugaresi E, Autilio-Gambetti L, Gambetti P (1992) Fatal familial insomnia: a prion disease with a mutation at codon 178 of the prion protein gene. New Engl J Med 326, 444-449

  79. Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, Lubs HA (1992) Spastic paraplegia with iron deposits in the basal ganglia. A new X-linked mental retardation syndrome. Am J Med Genet 43, 479-490

  80. Mérette C, King M-C, Ott J (1992) Heterogeneity analysis of breast cancer families by using age at onset as a covariate. Am J Hum Genet 50, 515-519

  81. Ott J (1992) Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet 51, 283-290

  82. Terwilliger JD, Ding Y, Ott J (1992) On the relative importance of marker heterozygosity and intermarker distance in gene mapping. Genomics 13, 951-956

  83. Brzustowicz LM, Kleyn PW, Boyce FM, Lien LL, Monaco AP, Penchaszadeh GK, Das K, Wang CH, Munsat TL, Ott J, Kunkel LM, Gilliam TC (1992) Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. Genomics 13, 991-998

  84. Terwilliger J, Ott J (1992) A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations. Hum Hered 42, 337-346

  85. Petersen RB, Tabaton M, Berg L, Schrank B, Torack RM, Leal S, Julien J, Vital C, Deleplanque B, Pendlebury WW, Drachman D, Smith TW, Martin JJ, Oda M, Montagna P, Ott J, Autilio-Gambetti L, Lugaresi E, Gambetti P (1992) Analysis of the prion protein gene in thalamic dementia. Neurology 42, 1859-1863

  86. Baron M, Freimer NF, Risch N, Lerer B, Alexander JR, Straub RE, Asokan S, Das K, Peterson A, Amos J, Endicott, Ott J, Gilliam C (1993) Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nature Genetics 3, 49-55

  87. Ott J (1993) Detecting marker inconsistencies in human gene mapping. Hum Hered 43, 25-30

  88. Weeks DE, Lathrop GM, Ott J (1993) Multipoint mapping under genetic interference. Hum Hered 43, 86-97

  89. Straub RE, Speer MC, Luo Y, Rojas K, Overhauser J, Ott J, Gilliam TC (1993) A microsatellite genetic linkage map of human chromosome 18. Genomics 15, 48-56

  90. Petrukhin KE, Speer MC, Cayanis E, de Fátima Bonaldo M, Tantravahi U, Soares MB, Fischer SG, Warburton D, Gilliam TC, Ott J (1993) A microsatellite genetic linkage map of human chromosome 13. Genomics 15, 76-85

  91. Vikkula M, Palotie A, Ritvaniemi P, Ott J, Ala-Kokko L, Sievers U, Aho K, Peltonen L (1993) Early-onset osteoarthritis linked to the type II procollagen gene. Arthritis and Rheumatism 36, 401-409

  92. Bunge S, Wedemann H, David D, Terwilliger DJ, Van den Born LI, Auleha-Scholz C, Samanns C, Horn M, Ott J, Schwinger E, Schinzel A, Denton MJ, Gal A (1993) Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant Retinitis Pigmentosa. Genomics 17, 230-233

  93. Terwilliger JD, Speer M, Ott J (1993) Chromosome-based method for rapid computer simulation in human genetic linkage analysis. Genet Epidemiol 10, 217-224

  94. Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L (1993) Refined assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16, 720-725

  95. Brzustowicz LM, Mérette C, Xie X, Townsend L, Gilliam TC, Ott J (1993) Molecular and statistical approaches to the detection and correction of errors in genotype databases. Am J Hum Genet 53, 1137-1145

  96. Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB (1993) Mutation and polymorphism of the prion protein gene in Lybian Jews with Creutzfeldt-Jacob disease. Am J Hum Genet 53, 828-835

  97. Mérette C, Lehner T, Ott J (1993) Two new approaches toward linkage heterogeneity of FAD: Two-locus models and age of onset as a discriminator. Genet Epidemiol 10, 455-459

  98. Leal SM, Ott J (1993) A bootstrap approach to estimating power for linkage heterogeneity. Genet Epidemiol 10, 465-470

  99. Terwilliger JD, Ott J (1993) A novel polylocus method for linkage analysis using the lod score or affected sib-pair method. Genet Epidemiol 10, 477-482

  100. Schork NJ, Boehnke M, Terwilliger JD, Ott J (1993) Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. Am J Hum Genet 53, 1127-1136

  101. Brzustowicz LM, Mérette C, Kleyn PW, Lehner T, Castilla LH, Penchaszadeh GK, Das K, Munsat TL, Ott J, Gilliam TG (1993) Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered 43, 380-387

  102. Spence MA, Bishop DT, Boehnke M, Elston RC, Falk C, Hodge SE, Ott J, Rice J, Merikangas K, Kupfer D (1993) Methodological issues in linkage analyses for psychiatric disorders: secular trends, assortative mating, bilineal pedigrees. Report of the MacArthur Foundation Network I Task Force on Methodological Issues. Hum Hered 43, 166-172

  103. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, Cayanis E, Vitale E, Russo J, Matseoane D, Boukhgalter B, Wasco W, Figus AL, Loudianos J, Cao A, Sternlieb I, Evgrafov G, Parano E, Pavone L, Warburton D, Ott J, Penchaszadeh G, Scheinberg IH, Gilliam TC (1993) Mapping, cloning, and genetic characterization of the region containing the Wilson disease gene. Nature Genetics 5, 338-343

  104. Weeks DE, Ott J, Lathrop GM (1994) Detection of genetic interference: simulation studies and mouse data. Genetics 136, 1217-1226

  105. Leal SM, Ott J (1994) A likelihood approach to calculating risk support intervals. Am J Hum Genet 54, 913-917

  106. Crow TJ, Delisi LE, Lofthouse R, Poulter M, Lehner T, Bass N, Shah T, Walsh C, Boccio-Smith A, Shields G, Ott J (1994) An examination of linkage to schizophrenia and schizoaffective disorder to the pseudoautosomal region (Xp22.3). Brit J Psychiat 164, 159-164

  107. Tienari PJ, Terwilliger JD, Ott J, Palo J, Peltonen L (1994) Two-locus linkage analysis in multiple sclerosis (MS). Genomics 19, 320-325

  108. Baron M, Endicott J, Lerer B, Loth JE, Alexander JR, Simon R, Sharpe L, Gibbon M, Hasin D, Lilliston B, Schacht S, Blumenthal R, Alexander J, Verter A, Tubi N, Fieve RR, Gilliam TC, Lehner T, Ott J (1994) A pedigree series for mapping disease genes in bipolar affective disorder: sampling, assessment, and analytic considerations. Psychiatric Genetics 4, 43-55

  109. Mérette C, Brzustowicz LM, Daniels RJ, Davies KE, Gilliam TC, Melki J, Munnich A, Pericak-Vance MA, Siddique T, Voosen B, Wirth B, Ott J (1994) An Investigation of Genetic Heterogeneity and Linkage Disequilibrium with 161 families with Spinal Muscular Atrophy. Genomics 21, 27-33

  110. Chatkupt S, Speer MC, Ding Y, Thomas M, Stenroos ES, Dermody JJ, Koenigsberger R, Ott J, Johnson WG (1994) Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. Am J Med Genet 52, 1-4

  111. Knowles JA, Shugart Y, Banerjee P, Gilliam TC, Lewis CA, Jacobson SG, Ott J (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Molec Genet 3, 1401-1403

  112. DeLisi LE, Devoto M, Lofthouse R, Poulter M, Smith A, Shields G, Bass N, Chen G, Vita A, Morgati C, Ott J, Crow TJ (1994) Search for linkage to schizophrenia on the X and Y chromosomes. Am J Med Genet (Neuropsych Genet) 54, 113-121

  113. Sasse G, Müller H, Chakraborty R, Ott J (1994) Estimating the frequency of nonpaternity in Switzerland. Hum Hered 44, 337-343

  114. Straub RE, Lehner T, Luo Y, Loth JE, Shao W, Sharpe L, Alexander JR, Das K, Simon R, Fieve RR, Lerer B, Endicott J, Ott J, Gilliam TC, Baron M (1994) A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nature Genetics 8, 291-296

  115. Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB (1994) Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan jews with Creutzfeldt-Jakob disease. Phil Trans R Soc Lond B 343, 385-390

  116. Karayiorgou M, Kasch L, Lasseter VK, Hwang J, Elango R, Bernardini DJ, Kimberland M, Babb R, Francomano CA, Wolyniec PS, Lamacz M, Nestadt G, Meyers D, Ott J, Childs B, Antonarakis S, Kazazian HH, Housman DE, Pulver AE (1994) Report from the Maryland epidemiology schizophrenia linkage study: No evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model. Am J Med Genet (Neuropsychiatric Genetics) 54, 345-353

  117. Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D, Ott J, Lamacz M, Liang KY, Hanfelt J, Ulrich G, DeMarchi N, Ramu E, McHugh PR, Adler L, Thomas M, Carpenter WT, Manschreck T, Gordon CT, Kimberland M, Babb R, Puck J, Childs B (1994) Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12-q13.1: Part 1. Am J Med Genet (Neuropsychiatric Genetics) 54, 36-43

  118. Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec P, Kasch L, Antonarakis S, Housman D, Kazazian HH, Meyers D, Nestadt G, Ott J, Liang KY, Lamacz M, Thomas M, Childs B, Diehl SR, Wang S, Murphy B, Sun C, O'Neill FA, Nie L, Sham P, Burke J, Duke BW, Duke F, Kipps BR, Bray J, Hunt W, Shinkwin R, Nuallain MN, Su Y, MacLean CJ, Walsh D, Kendler KS, Gill M, Vallada H, Mant R, Asherson P, Collier D, Parfitt E, Roberts E, Nanko S, Walsh C, Daniels J, Murray R, McGuffin P, Owen M, Laurent C, Dumas JB, d'Amato T, Jay M, Martinez M, Campion D, Mallet J (1994) Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. Am J Med Genet (Neuropsychiatric Genetics) 54, 44-55

  119. Pulver AE, Lasseter VK, Kasch L, Wolyniec PS, Nestadt G, Blouin JL, Kimberland M, Babb R, Vourlis S, Chen H, Lalioti M, Morris MA, Karayiorgou M, Ott J, Meyers D, Antonarakis S, Housman D, Kazazian HH (1995) Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genetics (Neuropsychiatric Genetics 60, 252-260

  120. Ott J (1995) Linkage analysis with biological markers. Hum Hered 45, 169-174

  121. Lazzarini A, Stenroos ES, Lehner T, McKoy V, Gold B, McCormack MK, Reid CS, Ott J, Johnson WG (1995) Short tandem repeat polymorphism linkage studies in a New England family with X-linked mental retardation (MRX20). Am J Med Genet 57, 552-557

  122. Fann CSJ, Ott J (1995) Parsimonious estimation of sex-specific map distances by stepwise maximum likelihood regression. Genomics 29, 571-575

  123. Leal SM, Ott J (1995) Variability of genotype-specific penetrance probabilities in the calculation of risk support intervals. Genet Epidemiol 12, 859-862

  124. Pauls DL, Ott J, Paul SM, Allen CR, Fann CSJ, Carulli JP, Falls KM, Bouthillier CA, Gravius TC, Keith TP, Egeland JA, Ginns EI (1995) Linkage analyses of chromosome 18 markers do not identify a major susceptibility locus for bipolar affective disorder in the Old Order Amish. Am J Hum Genet 57, 636-643

  125. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CSJ, Pauls DL, Weissenbach J, Carulli JP, Falls KM, Keith TP, Paul SM (1996) A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nature Genetics 12, 431-435

  126. Schuster H, Wienker TF, Bähring S, Bilginturan N, Toka HR, Neitzel H, Jeschke E, Toka O, Gilbert D, Lowe A, Ott J, Haller H, Luft FC (1996) Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nature Genetics 13, 98-100

  127. Mérette C, Ott J (1996) Estimating parental relationship in linkage analysis of recessive traits. Am J Med Genet 63, 386-391

  128. Spotila LD, Caminis J, Devoto M, Shimoya K, Sereda L, Ott J, Whyte MP, Tenenhouse A, Prockop DJ (1996) Osteopenia in 37 members of seven families: Analysis based on a model of dominant inheritance. Molecular Medicine 2, 313-324

  129. Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A (1996) A recombination outside the BB deletion refines the localization of the X-linked retinitis pigmentosa lcus RP3. Am J Hum Genet 59, 152-158

  130. Brzustowicz LM, Gardner JP, Hopp L, Jeanclos E, Ott J, Yang XY, Fekete Z, Aviv A (1997) Linkage analysis using platelet-activating factor Ca2+ response in transformed lymphoblasts. Hypertension 29, 158-164

  131. Müller-Myhsok B, Heiland H-J, Müller CR, Meng G, Grimm T, Ott J (1997) Mapping undetected mutations within a gene - evidence for two preferential regions in the DMD gene. Hum Hered 47, 61-65

  132. Karayiorgou M, Altemus M, Galke BL, Goldman D, Murphy DL, Ott J, Gogos JA (1997) Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci USA 94, 4572-4575

  133. Goring HH, Ott J (1997) Relationship estimation in affected sib pair analysis of late-onset diseases. Eur J Hum Genet 5, 69-77

  134. Tsou HC, Teng DH, Ping XL, Brancolini V, Davis T, Hu R, Xie XX, Gruener AC, Schrager CA, Christiano AM, Eng C, Steck P, Ott J, Tavtigian SV, Peacocke M (1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 61, 1036-1043

  135. Haghighi F, Ott J (1997) Estimating recessive disease allele frequency based on genetic maps. Eur J Hum Genet 5, 203-205

  136. McGee TL, Devoto M, Ott J, Berson EL, Dryja TP (1997) Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 61, 1059-1066

  137. Ott J, Rabinowitz D (1997) The effect of marker heterozygosity on the power to detect linkage disequilibrium. Genetics 147, 927-930

  138. Leal SM and Ott J (1997) Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance. Genet Epidemiol 14, 1097-1100

  139. Lucek PR, Ott J (1997) Neural network analysis of complex traits. Genet Epidemiol 14, 1101-1106

  140. Karayiorgou M, Altemus M, Galke BL, Goldman D, Murphy DL, Ott J, Gogos JA (1997) Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci USA 94, 4572-4575

  141. Banerjee P, Kleyn PW, Knowles JA, Lewis CA, Ross BM, Parano E, Kovats SG, Lee JJ, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa. Nature Genetics 18, 177-179

  142. Plášilová M, Feráková E, Kádasi L, Poláková H, Gerinec A, Ott J, Ferák V (1998) Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered 48, 30-33

  143. Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA (1998) Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics 48, 171-177

  144. Knowles JA, Rao PA, Cox-Matise T, Loth JE, de Jesus GM, Levine L, Das K, Penchaszadeh GK, Alexander JR, Lerer B, Endicott, Ott J, Gilliam TC, Baron M (1998) No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended Pedigrees. Am J Hum Genet 62, 916-924

  145. Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam HM, Aita VM, Owen J, deBlanquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM (1998) Alopecia universalis associated with a mutation in the human hairless gene. Science 279, 720-724

  146. Ahmad W, Brancolini V, Faiyaz ul Haque M, Lam H, ul Haque S, Haider M, Maimon A, Aita VM, Owen J, Brown D, Zegarelli DJ, Ahmad M, Ott J, Christiano AM (1998) A Locus for Autosomal Recessive Hypodontia with Associated Dental Anomalies Maps to Chromosome 16q12.1. Am J Hum Genet 62, 987-991

  147. Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD (1998) First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 6, 151-157

  148. Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS (1998) Age-related macular dystrophy degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116, 1082-1088

  149. Li W, Fann CSJ, Ott J (1998) Low-order polynomial trends of female-to-male map distance ratios along human chromosomes. Hum Hered 48, 266-270

  150. Lucek P, Hanke J, Reich J, Solla SA, Ott J (1998) Multi-locus nonparametric linkage analysis of complex trait loci with neural networks. Hum Hered 48, 275-284

  151. Simonic I, Gericke GS, Ott J, Weber JL (1998) Identification of Genetic Markers Associated with Gilles de la Tourette Syndrome in an Afrikaner Population. Am J Hum Genet 63, 839-846

  152. Gieser L, Fujita R, Goring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A (1998) A Novel Locus (RP24) for X-linked Retinitis Pigmentosa Maps to Xq26-27. Am J Hum Genet 63, 1439-1447

  153. Gordon D, Heath SC, Ott J (1999) True pedigree errors more frequent than apparent errors for single nucleotide polymorphisms. Hum Hered 49, 65-70

  154. Ott J, Rabinowitz D (1999) A principal-components approach based on heritability for combining phenotype information. Hum Hered 49, 106-111

  155. Karayiorgou M, Sobin C, Blundell ML, Galke BL, Malinova L, Goldberg P, Ott J, Gogos JA (1999) Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biol Psychiatry 45, 1178-1189

  156. Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Goring HHH, Ott J, Prockop DJ, Ala-Kokko L (1999) An allele of COL9A2 associated with intervertebral disc disease. Science 285, 409-412

  157. Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, Gaetaniello L, Ahmad W, Pozzi N, Cserhalmi-Friedman PB, Aita VM, Uyttendaele H, Gordon D, Ott J, Brissette JL, Christiano AM (1999) Exposing the human nude phenotype. Nature 398, 473-474

  158. Bhat A, Heath SC, Ott J (1999) Heterogeneity for multiple disease loci in linkage analysis. Hum Hered 49, 229-231

  159. Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Aleman TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG (1999) Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci 40, 2106-2114

  160. Le Saux O, Urban Z, Goring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Ott J, de Jong PT, Bergen AA, Boyd CD (1999) Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics 62, 1-10

  161. Hoh JJ, Ott J (2000) Complex inheritance and localizing disease genes. Hum Hered 50, 85-89

  162. Leal SM, Ott J (2000) Effects of stratification in the analysis of affected-sib-pair data: benefits and costs. Am J Hum Genet 66, 567-575

  163. Stiburkova B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S (2000) Familial juvenile hyperuricemic nephropathy: Localization of the gene on chromosome 16p11.2 and evidence for genetic heterogeneity. Am J Hum Genet 66, 1989-1994

  164. Gordon D, Simonic I, Ott J (2000) Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners. Genomics 66, 87-92

  165. Hu FZ, Preston RA, Post JC, White GJ, Kikuchi LW, Wang X, Leal SM, Levenstien MA, Ott J, Self TW, Allen G, Stiffler RS, McGraw C, Pulsifer-Anderson EA, Ehrlich GD (2000) Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. JAMA 284, 325-334

  166. Hoh J, Ott J (2000) Scan statistics to scan markers for susceptibility genes. Proc Natl Acad Sci USA 97, 9615-9617

  167. Mérette C, Brassard A, Potvin A, Bouvier H, Rousseau F, Emond C, Bissonnette L, Roy MA, Maziade M, Ott J, Caron C (2000) Significant Linkage for Tourette Syndrome in a Large French Canadian Family. Am J Hum Genet 67, 1008-1013

  168. Hoh J, Wille A, Zee R, Cheng S, Reynolds R, Lindpaintner K, Ott J (2000) Selecting SNPs in two-stage analysis of disease association data: a model-free approach. Ann Hum Genet 64, 413-417

  169. Gordon D, Leal SM, Heath SC, Ott J (2000) An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design. Pac Symp Biocomput 2000, 663-674

  170. Majewski J, Ott J (2000) GT repeats are associated with recombination on human chromosome 22. Genome Res 10, 1108-1114

  171. Ott J, Hoh J (2000) Statistical Approaches to Gene Mapping. Am J Hum Genet 67, 289-294, Review


  172. Shmulewitz D, Auerbach SB, Lehner T, Blundell ML, Winick JD, Youngman LD, Skilling V, Heath SC, Ott J, Stoffel M, Breslow JL, Friedman JM (2001) Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (Syndrome X) on the island of Kosrae, Federated States of Micronesia. Hum Hered 51, 8-19

  173. Hoh J, Heitjan DF, Mérette C, Ott J (2001) Ascertainment and anticipation in family studies. Hum Hered 51, 23-26

  174. Simonic I, Nyholt DR, Gericke GS, Matsumoto N, Ledbetter DH, Ott J, Weber JL (2001) Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. Am J Med Genet (Neuropsychiatric Genetics) 105, 163-167

  175. Gordon D, Ott J (2001) Assessment and management of single nucleotide polymorphism genotype errors in genetic association analysis. Pac Symp Biocomput 2001, 18-29

  176. Ott J, Hoh J (2001) Statistical multilocus methods for disequilibrium analysis in complex traits. Hum Mutat 17, 285-288

  177. Paassilta P, Lohiniva J, Goring HH, Perala M, Raina SS, Karppinen J, Hakala M, Palm T, Kroger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L (2001) Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285, 1843-1849

  178. Lee MH, Gordon D, Ott J, Lu K, Ose L, Miettinen T, Gylling H, Stalenhoef AF, Pandya A, Hidaka H, Brewer B Jr, Kojima H, Sakuma N, Pegoraro R, Salen G, Patel SB (2001) Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. Eur J Hum Genet 9, 375-384

  179. Ott J (2001) Neural networks and disease association studies. Am J Med Genet 105, 60-61

  180. Gordon D, Heath SC, Liu X, Ott J (2001) A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data. Am J Hum Genet 69, 371-380

  181. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC (2001) A genomewide screen for autism susceptibility loci. Am J Hum Genet 69, 327-340

  182. Majewski J, Li H, Ott J (2001) The Ising model in physics and statistical genetics. Am J Hum Genet 69, 853-862

  183. Hoh J, Wille A, Ott J (2001) Trimming, weighting, and grouping SNPs in human case-control association studies. Genome Res 11, 2115-2119

  184. Hoh J, Ott J (2001) A train of thoughts on gene mapping. Theor Popul Biol 60, 149-153

  185. Gordon D, Hoh J, Finch SJ, Levenstien MA, Edington J, Li W, Majewski J, Ott J (2001) Two approaches for consolidating results from genome scans of complex traits: selection methods and scan statistics. Genet Epidemiol 21 Suppl 1, S396-402

  186. Emala CW, McQuitty CK, Eleff SM, Hopkins-Price P, Lawyer C, Hoh J, Ott J, Levine MA, Hirshman CA (2002) Asthma, allergy, and airway hyperresponsiveness are not linked to the beta(2)-Adrenoceptor gene. Chest 121, 722-731

  187. Martinez-Mir A, Liu J, Gordon D, Weiner MS, Ahmad W, Fine JD, Ott J, Gilliam TC, Christiano AM (2002) EB Simplex Superficialis resulting from a mutation in the type VII collagen gene. J Invest Dermatol 118, 547-549

  188. Martinez-Mir A, Gordon D, Horev L, Klapholz L, Ott J, Christiano AM, Zlotogorski A (2002) Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43. J Invest Dermatol 118, 876-880

  189. Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hamalainen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Farkkila M, Peltonen L, Palotie (2002) A susceptibility locus for migraine with aura, on chromosome 4q24. Am J Hum Genet 70, 652-662

  190. Zee RYL, Hoh J, Cheng S, Reynolds R, Grow MA, Silbergleit A, Walker K, Steiner L, Zangenberg G, Fernandez-Ortiz A, Macaya C, Pintor E, Fernandez-Cruz A, Ott J, Lindpaintner K (2002) Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease. The Pharmacogenomics Journal 2, 197-201

  191. Hoh J, Jin S, Parrado T, Edington J, Levine AJ, Ott J (2002) The p53MH algorithm and its application in detecting p53-responsive genes. Proc Natl Acad Sci USA 99, 8467-8472

  192. Han Z, Heath SC, Shmulewitz D, Li W, Auerbach SB, Blundell ML, Lehner T, Ott J, Stoffel M, Friedman JM, Breslow JL (2002) Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia. Am J Med Genet 110, 234-242

  193. Jain S, Tang X, Narayanan CS, Agarwal Y, Peterson SM, Brown CD, Ott J, Kumar A (2002) Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans. J Biol Chem 277, 36889-36896

  194. Ott J, Hoh J (2002) Association studies for human trait genes. 2002 Proceedings of the American Statistical Association, Statistical Computing Section [CD-ROM], Alexandria, VA: American Statistical Association

  195. Acuna G, Foernzler D, Leong D, Rabbia M, Smit R, Dorflinger E, Gasser R, Hoh J, Ott J, Borroni E, To Z, Thompson A, Li J, Hashimoto L, Lindpaintner K (2002) Pharmacogenetic analysis of adverse drug effect reveals genetic variant for susceptibility to liver toxicity. Pharmacogenomics J 2, 327-334

  196. Gordon D, Finch SJ, Nothnagel M, Ott J (2002) Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Hum Hered 54, 22-33

  197. Yang Y, Ott J (2002) Log-linear models for gene mapping with affected sib pair data. Hum Hered 53, 227-236

  198. Majewski J, Ott J (2002) Distribution and characterization of regulatory elements in the human genome. Genome Res 12, 1827-1836

  199. Stiburkova B, Majewski J, Hodanova K, Ondrova L, Jerabkova M, Zikanova M, Vyletal P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns J-P, Torres R, Puig JG, Ott J, Kmoch S (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes. Eur J Hum Genet 11, 145-154

  200. Gordon D, Levenstien MA, Finch SJ, Ott J (2003) Errors and linkage disequilibrium interact multiplicatively when computing sample sizes for genetic case-control association studies. Pac Symp Biocomput 2003;:490-499

  201. Knappskog PM, Majewski J, Livneh A, Nilsen PTE, Bringsli JS, Ott J, Boman H (2003) Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet 72, 375-383

  202. Majewski J, Ott J (2003) Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms. Gene 305, 167-173

  203. Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK (2003) Association study of PHOX2B as a candidate gene for Hirschsprung’s disease. Gut 52, 563-567

  204. Gordon D, Corwin MB, Mellersh CS, Ostrander EA, Ott J (2003) Establishing appropriate genome-wide significance levels for canine linkage analyses. J Hered 94, 1-7

  205. Liu J, Juo SH, Dewan A, Grunn A, Tong X, Brito M, Park N, Loth JE, Kanyas K, Lerer B, Endicott J, Penchaszadeh G, Knowles JA, Ott J, Gilliam TC, Baron M (2003) Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol Psychiatry 8, 333-342

  206. Hoh J, Matsuda F, Peng X, Markovic D, Lathrop M, Ott J (2003) SNP haplotype tagging from DNA pools of two individuals. BMC Bioinformatics 4, 14

  207. Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O’Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM (2003) Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113, 249-260

  208. Yang Y, Zhang J, Hoh J, Matsuda F, Xu P, Lathrop M, Ott J (2003) Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA. Proc Natl Acad Sci USA 100, 7225-7230

  209. Yang Y, Hoh J, Broger C, Neeb M, Edington J, Lindpaintner K, Ott J (2003) Statistical methods for analyzing microarray feature data with replications. J Comput Biol 10, 157-169

  210. Ott J, Hoh J (2003) Set association analysis of SNP case-control and microarray data. J Comput Biol 10, 569-574

  211. Hoh J, Ott J (2003) Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet 4, 701-709. Review

  212. Martinez-Mir A, Zlotogorski A, Ott J, Gordon D, Christiano AM (2003) Genetic linkage studies in Alopecia Areata. J Investig Dermatol Symp Proc 8, 199-203

  213. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35, 349-356

  214. Wille A, Hoh J, Ott J (2003) Sum statistics for the joint detection of multiple disease loci in case-control association studies with SNP markers. Genet Epidemiol 25, 350-359

  215. Louie E, Ott J, Majewski J (2003) Nucleotide frequency variation across human genes. Genome Res 13, 2594-2601

  216. Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML (2003) Age-related macular degeneration — a genome scan in extended families. Am J Hum Genet 73, 540-550

  217. Schultz DW, Klein ML, Humpert A, Majewski J, Schain M, Weleber RG, Ott J, Acott TS (2003) Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol 121, 679-683

  218. Noponen-Hietala N, Kyllonen E, Mannikko M, Ilkko E, Karppinen J, Ott J, Ala-Kokko L (2003) Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann Rheum Dis 62, 1208-1214

  219. Levenstien MA, Yang Y, Ott J (2003) Statistical significance for hierarchical clustering in genetic association and microarray expression studies. BMC Bioinformatics 4(1), 62

  220. DeAngelis MM, Lane AM, Shah CP, Ott J, Dryja TP, Miller JW (2004) Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Arch Ophthalmol 122, 575-580

  221. Bart G, Heilig M, LaForge KS, Pollak L, Leal SM, Ott J, Kreek MJ (2004) Substantial attributable risk related to a functional mu-opioid receptor gene polymorphism in association with heroin addiction in central Sweden. Mol Psychiatry 9, 547-549

  222. Kang SJ, Gordon D, Brown AM, Ott J, Finch SJ (2004) Tradeoff between no-call reduction in genotyping error rate and loss of sample size for genetic case/control association studies. Pac Symp Biocomput 2004;:116-127

  223. Gordon D, Haynes C, Johnnidis C, Patel SB, Bowcock AM, Ott J (2004) A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. Eur J Hum Genet 12, 752-761

  224. Kim H, Klein R, Majewski J, Ott J (2004) Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet 36, 915-916

  225. Hoh J, Ott J (2004) Genetic dissection of diseases: design and methods. Curr Opin Genet Dev 14, 229-232

  226. DeWan A, Ott J (2004) Reanalysis of a genome scan for schizophrenia loci using multigenic methods. Hum Hered 57, 191-194

  227. Bart G, Kreek MJ, Ott J, Laforge KS, Proudnikov D, Pollak L, Heilig M (2004) Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in Central Sweden. Neuropsychopharmacology 2004, 1-6

  228. Yuferov V, Fussell D, LaForge KS, Nielsen DA, Gordon D, Ho A, Leal SM, Ott J, Kreek MJ (2004) Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction. Pharmacogenetics 14, 793-804

  229. Sherriff A, Ott J; ALSPAC Study Team (2004) Artificial neural networks as statistical tools in epidemiological studies: analysis of risk factors for early infant wheeze. Paediatr Perinat Epidemiol 18, 456-463

  230. Ott J (2004) Issues in association analysis: error control in case-control association studies for disease gene discovery. Hum Hered 58, 171-174

  231. Noponen-Hietala N, Virtanen I, Karttunen R, Schwenke S, Jakkula E, Li H, Merikivi R, Barral S, Ott J, Karppinen J, Ala-Kokko L (2005) Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica. Pain 114, 186-194

  232. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, Sangiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J (2005) Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 308, 385-389

  233. Xu J, Yang Y, Ott J (2005) Survival analysis of microarray expression data by transformation models. Comput Biol Chem 29, 91-94

  234. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A (2005) Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration. Am J Hum Genet 77, 149-153

  235. Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML (2005) Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol 89, 1115-1119

  236. Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37, 931-933

  237. Markovic D, Tang X, Guruju M, Levenstien MA, Hoh J, Kumar A, Ott J (2005) Association of Angiotensinogen Gene Polymorphisms with Essential Hypertension in African-Americans and Caucasians. Hum Hered 60, 89-96

  238. Bleiber G, May M, Martinez R, Meylan P, Ott J, Beckmann JS, Telenti A; Swiss HIV Cohort Study (2005) Use of a combined ex vivo/in vivo population approach for screening of human genes involved in the human immunodeficiency virus type 1 life cycle for variants influencing disease progression. J Virol 79, 12674-12680

  239. Jim JJ, Noponen-Hietala N, Cheung KM, Ott J, Karppinen J, Sahraravand A, Luk KD, Yip SP, Sham PC, Song YQ, Leong JC, Cheah KS, Ala-Kokko L, Chan D (2005) The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine 30, 2735-2742

  240. Helms C, Saccone NL, Cao L, Daw JA, Cao K, Hsu TM, Taillon-Miller P, Duan S, Gordon D, Pierce B, Ott J, Rice J, Fernandez-Vina MA, Kwok PY, Menter A, Bowcock AM (2005) Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet 118, 466-476

  241. Proudnikov D, LaForge KS, Hofflich H, Levenstien M, Gordon D, Barral S, Ott J, Kreek MJ (2006) Association analysis of polymorphisms in serotonin 1B receptor (HTR1B) gene with heroin addiction: a comparison of molecular and statistically estimated haplotypes. Pharmacogenet Genomics 16, 25-36

  242. Haider AS, Peters SB, Kaporis H, Cardinale I, Fei J, Ott J, Blumenberg M, Bowcock AM, Krueger JG, Carucci JA (2006) Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. J Invest Dermatol 126, 869-881

  243. Cheung KM, Chan D, Karppinen J, Chen Y, Jim JJ, Yip SP, Ott J, Wong KK, Sham P, Luk KD, Cheah KS, Leong JC, Song YQ (2006) Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in a Chinese population. Spine 31, 1143-1148

  244. Tosic M, Ott J, Barral S, Bovet P, Deppen P, Gheorghita F, Matthey M-L, Parnas J, Preisig M, Saraga M, Solida A, Timm S, Wang AG, Werge T, Cuenod M, Do KQ (2006) Schizophrenia and Oxidative Stress: Glutamate Cysteine Ligase Modifier as a Susceptibility Gene. Am J Hum Genet 79, 586-592

  245. Levenstien MA, Ott J, Gordon D (2006) Are Molecular Haplotypes Worth the Time and Expense? A Cost-Effective Method for Applying Molecular Haplotypes. PLoS Genet 18;2(8)

  246. Ott J (2006) Unknown parental phase--lod score versus information. A comment to Prof. Edwards' note. Ann Hum Genet 70, 974

  247. Barral S, Francis PJ, Schultz DW, Schain MB, Haynes C, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Expanded genome scan in extended families with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5453-5459. PMID: 17122136

  248. Martinez-Mir A, Zlotogorski A, Gordon D, Petukhova L, Mo J, Gilliam TC, Londono D, Haynes C, Ott J, Hordinsky M, Nanova K, Norris D, Price V, Duvic M, Christiano AM. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet. 2007 Feb;80(2):316-328. PMID: 17236136

  249. Virtanen IM, Noponen N, Barral S, Karppinen J, Li H, Vuoristo M, Niinimaki J, Ott J, Ala-Kokko L, Mannikko M. A Putative Susceptibility Locus on Chromosome 21q for Lumbar Disc Disease (LDD) in the Finnish Population. J Bone Miner Res. 2007 May;22(5):701-7. PMID: 17266399

  250. Xu MQ, St Clair D, Ott J, Feng GY, He L. Brain-derived neurotrophic factor gene C-270T and Val66Met functional polymorphisms and risk of schizophrenia: A moderate-scale population-based study and meta-analysis. Schizophr Res. 2007 Mar;91(1-3):6-13. PMID: 17289348

  251. Francis PJ, George S, Schultz DW, Rosner B, Hamon S, Ott J, Weleber RG, Klein ML, Seddon JM. The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration. Hum Hered. 2007;63(3-4):212-218. PMID: 17347568

  252. Kankova K, Stejskalova A, Pacal L, Tschoplova S, Hertlova M, Krusova D, Izakovicova-Holla L, Beranek M, Vasku A, Barral S, Ott J. Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach. Diabetologia. 2007 May;50(5):990-999. PMID: 17345061

  253. Virtanen IM, Karppinen J, Taimela S, Ott J, Barral S, Kaikkonen K, Heikkila O, Mutanen P, Noponen N, Mannikko M, Tervonen O, Natri A, Ala-Kokko L. Occupational and genetic risk factors associated with intervertebral disc disease. Spine. 2007 May 1;32(10):1129-34. PMID: 17471097

  254. Williams TJ, Laforge KS, Gordon D, Bart G, Kellogg S, Ott J, Kreek MJ. Prodynorphin gene promoter repeat associated with cocaine/alcohol codependence. Addict Biol. 2007 Sep;12(3-4):496-502. PMID: 17559549

  255. Perez CA, Ott J, Mays DJ, Pietenpol JA. p63 consensus DNA-binding site: identification, analysis and application into a p63MH algorithm. Oncogene. 2007 Nov 15;26(52):7363-70. PMID: 17563751

  256. DeAngelis MM, Ji F, Kim IK, Adams S, Capone A Jr, Ott J, Miller JW, Dryja TP. Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007 Jan;125(1):49-54. PMID: 17210851

  257. Francis PJ, Schultz DW, Hamon S, Ott J, Weleber RG, Klein ML. Haplotypes in the Complement Factor H (CFH) Gene: Associations with Drusen and Advanced Age-Related Macular Degeneration. PLoS ONE. 2007 Nov 28;2(11):e1197. PMID: 18043728

  258. Haider AS, Cohen J, Fei J, Zaba LC, Cardinale I, Toyoko K, Ott J, Krueger JG. Insights into Gene Modulation by Therapeutic TNF and IFNgamma Antibodies: TNF Regulates IFNgamma Production by T Cells and TNF-Regulated Genes Linked to Psoriasis Transcriptome. J Invest Dermatol. 2008 Mar;128(3):655-66. PMID: 17928893

  259. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK. Alleles in the HtrA Serine Peptidase 1 Gene Alter the Risk of Neovascular Age-Related Macular Degeneration. Ophthalmology. 2008 Jul;115(7):1209-1215.e7. PMID: 18164066

  260. Nielsen DA, Barral S, Proudnikov D, Kellogg S, Ho A, Ott J, Kreek MJ. TPH2 and TPH1: Association of Variants and Interactions with Heroin Addiction. Behav Genet. 2008 Mar;38(2):133-50. PMID: 18181017

  261. Nielsen DA, Ji F, Yuferov V, Ho A, Chen A, Levran O, Ott J, Kreek MJ. Genotype patterns that contribute to increased risk for or protection from developing heroin addiction. Mol Psychiatry. 2008, 13(4):417-428. PMID: 18195715

  262. Oosterhuis BE, Laforge KS, Proudnikov D, Ho A, Nielsen DA, Gianotti R, Barral S, Gordon D, Leal SM, Ott J, Kreek MJ. Catechol-O-methyltransferase (COMT) gene variants: Possible association of the Val158Met variant with opiate addiction in hispanic women. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):793-8. PMID: 18270997

  263. Proudnikov D, Hamon S, Ott J, Kreek MJ. Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction. Neurosci Lett. 2008 Apr 25;435(3):234-9. PMID: 18359160

  264. Bacolod MD, Schemmann GS, Wang S, Shattock R, Giardina SF, Zeng Z, Shia J, Stengel RF, Gerry N, Hoh J, Kirchhoff T, Gold B, Christman MF, Offit K, Gerald WL, Notterman DA, Ott J, Paty PB, Barany F. The signatures of autozygosity among patients with colorectal cancer. Cancer Res. 2008 Apr 15;68(8):2610-21. PMID: 18375840

  265. Klein ML, Francis PJ, Rosner B, Reynolds R, Hamon SC, Schultz DW, Ott J, Seddon JM. CFH and LOC387715/ARMS2 Genotypes and Treatment with Antioxidants and Zinc for Age-Related Macular Degeneration. Ophthalmology. 2008 Jun;115(6):1019-25. PMID: 18423869

  266. Levran O, O'Hara K, Peles E, Li D, Barral S, Ray B, Borg L, Ott J, Adelson M, Kreek MJ. ABCB1 (MDR1) Genetic Variants are Associated with Methadone Doses Required for Effective Treatment of Heroin Dependence. Hum Mol Genet. 2008 Jul 15;17(14):2219-27. PMID: 18424454

  267. Levran O, Londono D, O'Hara K, Nielsen DA, Peles E, Rotrosen J, Casadonte P, Linzy S, Randesi M, Ott J, Adelson M, Kreek MJ. Genetic susceptibility to heroin addiction; a candidate-gene association study. Genes Brain Behav. 2008 Oct;7(7):720-9. PMID: 18518925

  268. Francis PJ, Appukuttan B, Simmons E, Landauer N, Stoddard J, Hamon S, Ott J, Ferguson B, Klein M, Stout JT, Neuringer M. Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Hum Mol Genet. 2008 Sep 1;17(17):2673-80. PMID: 18535016

  269. Zhang Q, Wang S, Ott J. Combining identity by descent and association in genetic case-control studies. BMC Genet. 2008 Jul 5;9:42. PMID: 18601744

  270. Matthews AG, Haynes C, Liu C, Ott J. Collapsing SNP genotypes in case-control genome-wide association studies increases the type I error rate and power. Stat Appl Genet Mol Biol. 2008;7:Article23. PMID: 18673292

  271. Kim IK, Ji F, Morrison MA, Adams S, Zhang Q, Lane AM, Capone A, Dryja TP, Ott J, Miller JW, DeAngelis MM. Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Mol Vis. 2008 Aug 11;14:1487-95. PMID: 18704199

  272. Xu J, Yang Y, Ying Z, Ott J. Testing linkage disequilibrium from pooled DNA: a contingency table perspective. Stat Med. 2008 Dec 10;27(28):5801-15. PMID: 18712782

  273. Cheng YW, Pincas H, Bacolod MD, Schemmann G, Giardina SF, Huang J, Barral S, Idrees K, Khan SA, Zeng Z, Rosenberg S, Notterman DA, Ott J, Paty P, Barany F. CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res. 2008 Oct 1;14(19):6005-13. PMID: 18829479

  274. Yuferov V, Ji F, Nielsen DA, Levran O, Ho A, Morgello S, Shi R, Ott J, Kreek MJ. A Functional Haplotype Implicated in Vulnerability to Develop Cocaine Dependence is Associated with Reduced PDYN Expression in Human Brain. Neuropsychopharmacology. 2009 Apr;34(5):1185-97. PMID: 18923396

  275. Nielsen DA, Yuferov V, Hamon S, Jackson C, Ho A, Ott J, Kreek MJ. Increased OPRM1 DNA Methylation in Lymphocytes of Methadone-Maintained Former Heroin Addicts. Neuropsychopharmacology. 2009 Mar;34(4):867-73. PMID: 18650805

  276. Yang Y, He C, Ott J. Testing Association with Interactions by Partitioning Chi-Squares. Ann Hum Genet. 2009 Jan;73(1):109-17.PMID: 18798840

  277. Francis PJ, Hamon SC, Ott J, Weleber RG, Klein ML. Polymorphisms in C2, CFB and C3 are associated with progression to Advanced Age-Related Macular Degeneration associated with visual loss. J Med Genet. 2009 May;46(5):300-7.PMID: 19015224

  278. Wang S, Haynes C, Barany F, Ott J. Genome-wide autozygosity mapping in human populations. Genet Epidemiol. 2009 Feb;33(2):172-80. PMID: 18814273

  279. Shaaban S, Matsuo T, Fujiwara H, Itoshima E, Furuse T, Hasebe S, Zhang Q, Ott J, Ohtsuki H. Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus. Invest Ophthalmol Vis Sci. 2009 Feb;50(2):654-61. PMID: 18824738

  280. Yang Y, He C, Ott J. Testing association with interactions by partitioning chi-squares. Ann Hum Genet. 2009 Jan;73(Pt 1):109-17

  281. He C, Hamon S, Li D, Barral-Rodriguez S, Ott J; Diabetes Genetics Consortium. MHC fine mapping of human type 1 diabetes using the T1DGC data. Diabetes Obes Metab. 2009 Feb;11 Suppl 1:53-59. PMID: 19143815

  282. Long Q, Zhang Q, Ott J. Detecting disease-associated genotype patterns. BMC Bioinformatics. 2009 Jan 30;10 Suppl 1:S75. PMID: 19208180

  283. Levran O, Londono D, O'Hara K, Randesi M, Rotrosen J, Casadonte P, Linzy S, Ott J, Adelson M, Kreek MJ. Heroin addiction in African Americans: a hypothesis-driven association study. Genes Brain Behav. 2009 Jul;8(5):531-40. PMID: 19500151

  284. Risch N, Herrell R, Lehner T, Liang KY, Eaves L, Hoh J, Griem A, Kovacs M, Ott J, Merikangas KR. Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. JAMA. 2009 Jun 17;301(23):2462-71. PMID: 19531786

  285. Matthews AG, Li J, He C, Ott J, Andrade M. Adjusting for HLA-DRbeta1 in a genome-wide association analysis of rheumatoid arthritis and related biomarkers. BMC Proc. 2009 Dec 15;3 Suppl 7:S12. PMID: 20017985

  286. Nash GM, Gimbel M, Cohen AM, Zeng ZS, Ndubuisi MI, Nathanson DR, Ott J, Barany F, Paty PB. KRAS mutation and microsatellite instability: two genetic markers of early tumor development that influence the prognosis of colorectal cancer. Ann Surg Oncol. 2010 Feb;17(2):416-24. PMID: 19813061

  287. Proudnikov D, Kroslak T, Sipe JC, Randesi M, Li D, Hamon S, Ho A, Ott J, Kreek MJ. Association of polymorphisms of the cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) genes with heroin addiction: impact of long repeats of CNR1. Pharmacogenomics J. 2010 Jun;10(3):232-42. PMID: 20010914

  288. Briant JA, Nielsen DA, Proudnikov D, Londono D, Ho A, Ott J, Kreek MJ. Evidence for association of two variants of the nociceptin/orphanin FQ receptor gene OPRL1 with vulnerability to develop opiate addiction in Caucasians. Psychiatr Genet. 2010 Apr;20(2):65-72. PMID: 20032820

  289. Nielsen DA, Hamon S, Yuferov V, Jackson C, Ho A, Ott J, Kreek MJ. Ethnic diversity of DNA methylation in the OPRM1 promoter region in lymphocytes of heroin addicts. Hum Genet. 2010 Jun;127(6):639-49. PMID: 20237803

  290. Klein ML, Ferris FL 3rd, Francis PJ, Lindblad AS, Chew EY, Hamon SC, Ott J. Progression of Geographic Atrophy and Genotype in Age-Related Macular Degeneration. Ophthalmology. 2010 Apr 8;117:1554-1559. PMID: 20381870

  291. Wang G, Yang Y, Ott J. Genome-wide conditional search for epistatic disease-predisposing variants in human association studies. Hum Hered. 2010 Apr 23;70(1):34-41. PMID: 20413980

  292. Kramer PL, Xu H, Woltjer RL, Westaway SK, Clark D, Erten-Lyons D, Kaye JA, Welsh-Bohmer KA, Troncoso JC, Markesbery WR, Petersen RC, Turner RS, Kukull WA, Bennett DA, Galasko D, Morris JC, Ott J. Alzheimer disease pathology in cognitively healthy elderly: A genome-wide study. Neurobiol Aging. 2010 May 6. PMID: 20452100

  293. Wu C, Xu B, Yuan P, Ott J, Guan Y, Liu Y, Liu Z, Shen Y, Yu D, Lin D. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. Pharmacogenet Genomics. 2010 Jun;20(6):389-95. PMID: 20463552

  294. Nielsen DA, Ji F, Yuferov V, Ho A, He C, Ott J, Kreek MJ. Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction. Psychiatr Genet. 2010 Oct;20(5):207-14. PMID: 20520587

  295. Ott J, Macciardi F, Shen Y, Carta MG, Murru A, Triunfo R, Robledo R, Rinaldi A, Contu L, Siniscalco M. Pilot Study on Schizophrenia in Sardinia. Hum Hered. 2010 Jun 17;70(2):92-96. PMID: 20558996

  296. Cho S, Kim K, Kim YJ, Lee JK, Cho YS, Lee JY, Han BG, Kim H, Ott J, Park T. Joint identification of multiple genetic variants via elastic-net variable selection in a genome-wide association analysis. Ann Hum Genet. 2010 Sep 1;74(5):416-28. PMID: 20642809

  297. Shen Y, Liu Z, Ott J. Systematic Removal of Outliers to Reduce Heterogeneity in Case-Control Association Studies. Hum Hered. 2010 Oct 6;70(4):227-231. PMID: 20924194

  298. Wu L, Xi B, Zhang M, Shen Y, Zhao X, Cheng H, Hou D, Sun D, Ott J, Wang X, Mi J. Associations of six single nucleotide polymorphisms in obesity-related genes with body mass index and risk of obesity in the Chinese children. Diabetes. 2010 Sep 15. PMID: 20843981

  299. Korvala J, Hartikka H, Pihlajamaki H, Solovieva S, Ruohola JP, Sahi T, Barral S, Ott J, Ala-Kokko L, Mannikko M. Genetic Predisposition For Femoral Neck Stress Fractures In Military Conscripts. BMC Genet. 2010 Oct 21;11(1):95. PMID: 20961463


  300. Lee KT, Byun MJ, Kang KS, Park EW, Lee SH, Cho S, Kim H, Kim KW, Lee T, Park JE, Park W, Shin D, Park HS, Jeon JT, Choi BH, Jang GW, Choi SH, Kim DW, Lim D, Park HS, Park MR, Ott J, Schook LB, Kim TH, Kim H. Neuronal genes for subcutaneous fat thickness in human and pig are identified by local genomic sequencing and combined SNP association study. PLoS One. 2011 Feb 2;6(2):e16356. PMID: 21311593

  301. Ott J. Writings on genetic linkage in the Annals. Ann Hum Genet. 2011 May;75(3):344-7. PMID: 21488851

  302. Ott J. William Allan Award Address: On the role and soul of a statistical geneticist. Am J Hum Genet. 2011 Mar 11;88(3):264-8. PMID: 21516615

  303. Ott J, Kamatani Y, Lathrop M. Family-based designs for genome-wide association studies. Nat Rev Genet. 2011 Jun 1;12(7):465-74. doi: 10.1038/nrg2989. PMID: 21629274

  304. Ott J, Wang J. Multiple phenotypes in genome-wide genetic mapping studies. Protein Cell. 2011 Jul;2(7):519-22. PMID: 21647556

  305. Schäffer AA, Lemire M, Ott J, Lathrop GM, Weeks DE. Coordinated conditional simulation with SLINK and SUP of many markers linked or associated to a trait in large pedigrees. Hum Hered. 2011;71(2):126-34. PMID: 21734403

  306. Liu Z, Shen Y, Ott J. Multilocus association mapping using generalized ridge logistic regression. BMC Bioinformatics. 2011 Sep 29;12:384. PMID: 21958005

  307. Zhang L, Chang S, Li Z, Zhang K, Du Y, Ott J, Wang J. ADHDgene: a genetic database for attention deficit hyperactivity disorder. Nucleic Acids Res. 2012 Jan;40(Database issue):D1003-9. PMID: 22080511

  308. Proudnikov D, Randesi M, Levran O, Crystal H, Dorn M, Ott J, Ho A, Kreek MJ. Association of polymorphisms of the mu opioid receptor gene with severity of HIV infection and response to HIV treatment. J Infect Dis. 2012 Jun;205(11):1745-56. PMID: 22457278

  309. Barral S, Bird T, Goate A, Farlow MR, Diaz-Arrastia R, Bennett DA, Graff-Radford N, Boeve BF, Sweet RA, Stern Y, Wilson RS, Foroud T, Ott J, Mayeux R; National Institute on Aging Late-Onset Alzheimer's Disease Genetics Study. Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory. Neurology. 2012 May 8;78(19):1464-71. PMID: 22539578

  310. Ott J, Sun D. Multilocus association analysis under polygenic models. Int J Data Min Bioinform. 2012; 6(5):482-489. PMID: 23155777

  311. Shen Y, Liu Z, Ott J. Support vector machines with L1 penalty for detecting gene-gene interactions. Int J Data Min Bioinform. 2012; 6(5):463-470. PMID: 23155775

  312. Park T, Ott J. Data mining for high throughput data from genome-wide association studies. Int J Data Min Bioinform. 2012;6(5):461-2. PMID: 23155774

  313. Guo L, Zhang W, Chang S, Zhang L, Ott J, Wang J. MK4MDD: A Multi-Level Knowledge Base and Analysis Platform for Major Depressive Disorder. PLoS One. 2012;7(10):e46335. doi: 10.1371/journal.pone.0046335. PMID: 23071556

  314. Ott J, Hoh J. Scan statistics in human gene mapping. Am J Hum Genet. 2012 Nov 2;91(5):970. PMID: 23122592

  315. Ott J, Liu Z, Shen Y. Challenging False Discovery Rate: A Partition Test Based on p Values in Human Case-Control Association Studies. Hum Hered. 2012 Nov 13;74(1):45-50. PMID: 23154528

  316. Yuferov V, Ho A, Morgello S, Yang Y, Ott J, Kreek MJ. Expression of Ephrin Receptors and Ligands in Postmortem Brains of HIV-Infected Subjects With and Without Cognitive Impairment. J Neuroimmune Pharmacol. 2013 Mar;8(1):333-44. doi: 10.1007/s11481-012-9429-1. Epub 2013 Jan 12. PMID:23314923, PMC3587720

  317. Thomas BN, Thakur TJ, Yi L, Guindo A, Diallo DA, Ott J. Extensive ethnogenomic diversity of endothelial nitric oxide synthase (eNOS) polymorphisms. Gene Regul Syst Bio. 2013;7:1-10. doi: 10.4137/GRSB.S10857. Epub 2013 Jan 15. PMID:23400313

  318. Proudnikov D, Randesi M, Levran O, Yuferov V, Crystal H, Ho A, Ott J, Kreek MJ. Polymorphisms of the Kappa Opioid Receptor and Prodynorphin Genes: HIV risk and HIV Natural History. J Acquir Immune Defic Syndr. 2013 Feb 7. [Epub ahead of print] PMID:23392455

  319. Suo C, Toulopoulou T, Bramon E, Walshe M, Picchioni M, Murray R, Ott J. Analysis of multiple phenotypes in genome-wide genetic mapping studies. BMC Bioinformatics. 2013 May 2;14:151. doi: 10.1186/1471-2105-14-151. PMID: 23639181

  320. Levran O, Peles E, Randesi M, Shu X, Ott J, Shen PH, Adelson M, Kreek MJ. Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction. Pharmacogenomics. 2013 May;14(7):755-68. doi: 10.2217/pgs.13.58. PMID: 23651024

  321. Xi B, Shen Y, Zhao X, Chandak GR, Cheng H, Hou D, Li Y, Ott J, Zhang Y, Wang X, Mi J. Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children. J Hum Hypertens. 2013 Jun 13. doi: 10.1038/jhh.2013.50. [Epub ahead of print] PMID: 23759979

  322. Negi S, Juyal G, Senapati S, Prasad P, Gupta A, Singh S, Kashyap S, Kumar A, Kumar U, Gupta R, Kaur S, Agrawal S, Aggarwal A, Ott J, Jain S, Juyal RC, Thelma BK. A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for Rheumatoid arthritis in north Indians. Arthritis Rheum. 2013 Aug 5. doi: 1002/art.38110. [Epub ahead of print] PMID: 23918589

  323. Li Y, Zhang K, Chen H, Sun F, Xu J, Wu Z, Li P, Zhang L, Du Y, Luan H, Li X, Wu L, Li H, Wu H, Li X, Li X, Zhang X, Gong L, Dai L, Sun L, Zuo X, Xu J, Gong H, Li Z, Tong S, Wu M, Li X, Xiao W, Wang G, Zhu P, Shen M, Liu S, Zhao D, Liu W, Wang Y, Huang C, Jiang Q, Liu G, Liu B, Hu S, Zhang W, Zhang Z, You X, Li M, Hao W, Zhao C, Leng X, Bi L, Wang Y, Zhang F, Shi Q, Qi W, Zhang X, Jia Y, Su J, Li Q, Hou Y, Wu Q, Xu D, Zheng W, Zhang M, Wang Q, Fei Y, Zhang X, Li J, Jiang Y, Tian X, Zhao L, Wang L, Zhou B, Li Y, Zhao Y, Zeng X, Ott J, Wang J, Zhang F. A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. Nat Genet. 2013 Nov;45(11):1361-5. doi: 10.1038/ng.2779. Epub 2013 Oct 6. PMID: 24097066

  324. Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, März W, Reilly M, Kathiresan S, McPherson R, Walter U; CARDIoGRAM, Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H. Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10. PMID: 24213632

  325. Mayer-Blackwell B, Schlussman SD, Butelman ER, Ho A, Ott J, Kreek MJ, Zhang Y. Self administration of oxycodone by adolescent and adult mice affects striatal neurotransmitter receptor gene expression. Neuroscience. 2014 Jan 31;258:280-91. doi: 10.1016/j.neuroscience.2013.10.062. Epub 2013 Nov 9. PMID: 24220688

  326. Zhang Y, Mayer-Blackwell B, Schlussman SD, Randesi M, Butelman ER, Ho A, Ott J, Kreek MJ. Extended access oxycodone self-administration and neurotransmitter receptor gene expression in the dorsal striatum of adult C57BL/6 J mice. Psychopharmacology (Berl). 2014 Apr;231(7):1277-87. doi: 10.1007/s00213-013-3306-3. Epub 2013 Nov 13. PMID: 24221825

  327. Levran O, Randesi M, Li Y, Rotrosen J, Ott J, Adelson M, Jeanne Kreek M. Drug addiction and stress-response genetic variability: association study in African Americans. Ann Hum Genet. 2014 Jul;78(4):290-8. doi: 10.1111/ahg.12064. Epub 2014 Apr 26. PMID: 24766650

  328. Juyal G, Negi S, Sood A, Gupta A, Prasad P, Senapati S, Zaneveld J, Singh S, Midha V, van Sommeren S, Weersma RK, Ott J, Jain S, Juyal RC, Thelma BK. Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. Gut. 2014 May 16. pii: gutjnl-2013-306625. doi: 10.1136/gutjnl-2013-306625. [Epub ahead of print] PMID: 24837172

  329. Levran O, Peles E, Randesi M, Li Y, Rotrosen J, Ott J, Adelson M, Kreek MJ. Stress-related genes and heroin addiction: a role for a functional FKBP5 haplotype. Psychoneuroendocrinology. 2014 Jul;45:67-76. doi: 10.1016/j.psyneuen.2014.03.017. Epub 2014 Apr 6. PMID: 24845178

  330. Zhang Q, Long Q, Ott J. AprioriGWAS, a New Pattern Mining Strategy for Detecting Genetic Variants Associated with Disease through Interaction Effects. PLoS Comput Biol. 2014 Jun 5;10(6):e1003627. doi: 10.1371/journal.pcbi.1003627. eCollection 2014 Jun. PMID: 24901472

  331. Zhang Y, Brownstein AJ, Buonora M, Niikura K, Ho A, Correa da Rosa J, Kreek MJ, Ott J. Self administration of oxycodone alters synaptic plasticity gene expression in the hippocampus differentially in male adolescent and adult mice. Neuroscience. 2015 Jan 29;285:34-46. doi: 10.1016/j.neuroscience.2014.11.013. Epub 2014 Nov 14. PMID:25446355

  332. Levran O, Peles E, Randesi M, Correa da Rosa J, Ott J, Rotrosen J, Adelson M, Kreek MJ. Dopaminergic pathway polymorphisms and heroin addiction: further support for association of CSNK1E variants. Pharmacogenomics. 2014 Dec;15(16):2001-9. doi: 10.2217/pgs.14.145. PMID:25521358

  333. Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; Type 1 Diabetes Genetics Consortium, Todd JA, Wallace C, Concannon P, Rich SS. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nat Genet. 2015 Apr;47(4):381-6. doi: 10.1038/ng.3245. Epub 2015 Mar 9. PMID:25751624

  334. Ott J, Wang J, Leal SM. Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet. 2015 May;16(5):275-84. doi: 10.1038/nrg3908. Epub 2015 Mar 31. Review. PMID:25824869

  335. Levran O, Randesi M, da Rosa JC, Ott J, Rotrosen J, Adelson M, Kreek MJ. Overlapping dopaminergic pathway genetic susceptibility to heroin and cocaine addictions in African Americans. Ann Hum Genet. 2015 May; 79(3):188-98. doi: 10.1111/ahg.12104. Epub 2015 Feb 27. PMID:25875614

  336. Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11. PMID:25961942

  337. Wang J, Tao Y, Song F, Sun Y, Ott J, Saffen D. Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism. Ann Hum Genet. 2015 Jun 19. doi: 10.1111/ahg.12121. PMID:26094621

  338. Guan X, Song Y, Ott J, Zhang Y, Li C, Xin T, Li Z, Gan Y, Li J, Zhou S, Zhou Y. The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism. J Dent Res. 2015 Sep;94(9):1196-201. doi: 10.1177/0022034515589957. Epub 2015 Jun 29. PMID:26124221

  339. Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Sci Rep. 2015 Jul 6;5:12028. doi: 10.1038/srep12028. PMID:26143870

  340. Li Y, Cagirici HB, Horpaopan S, Ott J, Imai A, Majewski J, Lathrop M. Leveling the Playing Field in Homozygosity Mapping Using Map Distances. Ann Hum Genet. 2015 Jul 15. doi: 10.1111/ahg.12125. PMID:26179257

  341. Levran O, Peles E, Randesi M, Correa da Rosa J, Ott J, Rotrosen J, Adelson M, Kreek MJ. Susceptibility loci for heroin and cocaine addiction in the serotonergic and adrenergic pathways in populations of different ancestry. Pharmacogenomics. 2015 Aug;16(12):1329-42. doi: 10.2217/pgs.15.86. PMID:26227246

  342. Levran O, Peles E, Randesi M, Correa da Rosa J, Ott J, Rotrosen J, Adelson M, Kreek MJ. Synaptic Plasticity and Signal Transduction Gene Polymorphisms and Vulnerability to Drug Addictions in Populations of European or African Ancestry. CNS Neurosci Ther. 2015 Sep 19. doi: 10.1111/cns.12450. PMID:26384852

  343. Taipale M, Jakkula E, Kämäräinen OP, Gao P, Skarp S, Barral S, Kiviranta I, Kröger H, Ott J, Wei GH, Ala-Kokko L, Männikkö M. Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritis. Osteoarthritis Cartilage. 2015 Nov 19. pii: S1063-4584(15)01390-4. doi: 10.1016/j.joca.2015.10.019. [Epub ahead of print] PMID: 26603474

  344. Levran O, Peles E, Randesi M, Correa da Rosa J, Ott J, Rotrosen J, Adelson M, Kreek MJ. Glutamatergic and GABAergic susceptibility loci for heroin and cocaine addiction in subjects of African and European ancestry. Prog Neuropsychopharmacol Biol Psychiatry. 2016 Jan 4;64:118-23. doi: 10.1016/j.pnpbp.2015.08.003. PMID:26277529

  345. Xu T, Wang Y, Li Z, Huang J, Lui SS, Tan SP, Yu X, Cheung EF, He MG, Ott J, Gur RE, Gur RC, Chan RC. Heritability and familiality of neurological soft signs: evidence from healthy twins, patients with schizophrenia and non-psychotic first-degree relatives. Psychol Med. 2016 Jan;46(1):117-23. PMID:26347209

  346. Levran O, Randesi M, Peles E, Correa da Rosa J, Ott J, Rotrosen J, Adelson M, Kreek MJ. African-specific variability in the acetylcholine muscarinic receptor M4: association with cocaine and heroin addiction. Pharmacogenomics. 2016 Jun;17(9):995-1003. doi: 10.2217/pgs-2016-0028. PMID:27269905

  347. Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. J Hum Genet. 2016 Nov;61(11):959-963. doi: 10.1038/jhg.2016.85. PMID:27357426

  348. Variants of opioid system genes are associated with non-dependent opioid use and heroin dependence. Randesi M, van den Brink W, Levran O, Blanken P, Butelman ER, Yuferov V, da Rosa JC, Ott J, van Ree JM, Kreek MJ. Drug Alcohol Depend. 2016 Nov 1;168:164-169. doi: 10.1016/j.drugalcdep.2016.08.634. Epub 2016 Sep 5. PMID: 27664554

  349. To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data. Ott J. J Hum Genet. 2017 Apr;62(5):523. doi: 10.1038/jhg.2017.7. Epub 2017 Feb 2. PMID: 28148923

  350. HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing. Imai-Okazaki A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J. Hum Mutat. 2017 Dec;38(12):1796-1800. doi: 10.1002/humu.23298. Epub 2017 Sep 21. PMID: 28722338

  351. Dopamine gene variants in opioid addiction: comparison of dependent patients, nondependent users and healthy controls. Randesi M, van den Brink W, Levran O, Yuferov V, Blanken P, van Ree JM, Ott J, Kreek MJ. Pharmacogenomics. 2018 Jan;19(2):95-104. doi: 10.2217/pgs-2017-0134. Epub 2017 Dec 6. PMID: 29210332

  352. The combined effects of cardiovascular disease related SNPs on ischemic stroke. Xu K, Liu X, Ott J, Jiang F, Zhang W, Wang L, Zhao J, Wang X. J Neurol Sci. 2018 May 15;388:141-145. doi: 10.1016/j.jns.2018.03.013. Epub 2018 Mar 6. PMID: 29627009

  353. A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS). Javanrouh N, Soltanian AR, Tapak L, Azizi F, Ott J, Daneshpour MS. Genet Epidemiol. 2019 Apr;43(3):342-351. doi: 10.1002/gepi.22179. Epub 2018 Dec 30. PMID: 30597647

  354. Genetic Variant in the CRH-binding Protein Gene (CRHBP) is Associated With Cessation of Cocaine Use in Methadone Maintenance Patients With Opioid Addiction. Peles E, Levran O, Randesi M, Ott J, Kreek MJ, Adelson M. J Addict Med. 2019 Nov/Dec;13(6):430-435. doi: 10.1097/ADM.0000000000000515. PMID: 30844877

  355. Association of variants of prodynorphin promoter 68-bp repeats in caucasians with opioid dependence diagnosis: Effect on age trajectory of heroin use. Yuferov V, Randesi M, Butelman ER, van den Brink W, Blanken P, van Ree JM, Ott J, Kreek MJ. Neurosci Lett. 2019 Jun 21;704:100-105. doi: 10.1016/j.neulet.2019.03.038. Epub 2019 Mar 29. PMID: 30936032

  356. VMAT2 gene (SLC18A2) variants associated with a greater risk for developing opioid dependence. Randesi M, van den Brink W, Levran O, Blanken P, van Ree JM, Ott J, Kreek MJ. Pharmacogenomics. 2019 Apr;20(5):331-341. doi: 10.2217/pgs-2018-0137. Epub 2019 Apr 15. PMID: 30983500

  357. Heterozygosity mapping for human dominant trait variants. Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24. PMID: 31018026

  358. Are trait impulsivity and exposure to cannabis or alcohol associated with the age of trajectory of cocaine use? A gender-specific dimensional analysis in humans with cocaine dependence diagnosis. Butelman ER, Chen CY, Conybeare RA, Brown KG, Fry RS, Kimani R, Correa da Rosa J, Ott J, Kreek MJ. Exp Clin Psychopharmacol. 2020 Jun;28(3):317-327. doi: 10.1037/pha0000314. Epub 2019 Aug 19. PMID: 31424236

  359. A 3' UTR SNP rs885863, a cis-eQTL for the circadian gene VIPR2 and lincRNA 689, is associated with opioid addiction. Levran O, Randesi M, Rotrosen J, Ott J, Adelson M, Kreek MJ. PLoS One. 2019 Nov 5;14(11):e0224399. doi: 10.1371/journal.pone.0224399. eCollection 2019. PMID: 31689297

  360. Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data. Hsieh AR, Sie JJ, Chang CC, Ott J, Lian IB, Fann CSJ. Front Genet. 2020 Jun 12;11:555. doi: 10.3389/fgene.2020.00555. eCollection 2020. PMID: 32655614

  361. Shared genomic segment analysis with equivalence testing. Horpaopan S, Fann CSJ, Lathrop M, Ott J. Genet Epidemiol. 2020 Oct;44(7):741-747. doi: 10.1002/gepi.22335. Epub 2020 Jul 16. PMID: 32677112

  362. Population genetics: past, present, and future. Okazaki A, Yamazaki S, Inoue I, Ott J. Hum Genet. 2021 Feb;140(2):231-240. doi: 10.1007/s00439-020-02208-5. Epub 2020 Jul 18. PMID: 32683493

  363. Further evidence for the association of GAL, GALR1 and NPY1R variants with opioid dependence.  Randesi M, Levran O, den Brink WV, Blanken P, van Ree JM, Ott J, Kreek MJ. Pharmacogenomics. 2020 Aug;21(13):903-917. doi: 10.2217/pgs-2020-0045. Epub 2020 Aug 6. PMID: 32757697

  364. Variants of opioid genes and response to treatment of opioid use disorder with buprenorphine-naloxone versus extended-release naltrexone in Caucasians. Randesi M, Rotrosen J, Nunes EV, Lee JD, Novo P, Levran O, Ott J, Pavlicova M, Scodes J, Kreek MJ. Am J Drug Alcohol Abuse. 2020 Nov 1;46(6):761-768. doi: 10.1080/00952990.2020.1797064. Epub 2020 Aug 27. PMID: 32851876

  365. A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. Grimm T, Garshasbi M, Puettmann L, Chen W, Ullmann R, Müller-Myhsok B, Klopocki E, Herbst L, Haug J, Jensen LR, Fischer C, Nöthen M, Ludwig K, Warnke A, Ott J, Schulte-Körne G, Ropers HH, Kuss AW. Z Kinder Jugendpsychiatr Psychother. 2020 Nov;48(6):478-489. doi: 10.1024/1422-4917/a000758. PMID: 33172359


  366. Polymorphisms in Stress-Related Genes Are Associated with Reduced Cocaine Abuse and Longer Retention in Methadone Maintenance Treatment for Opioid Use Disorder.  Peles E, Levran O, Randesi M, Ott J, Kreek MJ, Adelson M. Eur Addict Res. 2021;27(3):198-205. doi: 10.1159/000511898. Epub 2020 Nov 26. PMID: 33242852

  367. Okazaki A, Horpaopan S, Zhang Q, Randesi M, Ott J. (2021). Genotype pattern mining for pairs of interacting variants underlying digenic traits. Genes, 12(8), 1160. doi:

  368. Editorial: Multi-Omics Study in Revealing Underlying Pathogenesis of Complex Diseases: A Translational Perspective. Zhang YM, Wang YF, Rasheed H, Ott J. Front Genet. 2021 Oct 22;12:789294. doi: 10.3389/fgene.2021.789294. eCollection 2021.

  369. Analyses of polymorphisms of intron 2 of OPRK1 (kappa-opioid receptor gene) in association with opioid and cocaine dependence diagnoses in an African-American population. Yuferov V, Butelman ER, Randesi M, Ott J, Kreek MJ. Neurosci Lett. 2022 Jan 18;768:136364. doi: 10.1016/j.neulet.2021.136364.

  370. Machine learning approaches to explore digenic inheritance. Okazaki A, Ott J. Trends Genet. 2022 Oct;38(10):1013-1018. doi: 10.1016/j.tig.2022.04.009. Epub 2022 May 14.

  371. Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression. Amin M, Ott J, Wu R, Postolache TT, Gragnoli C. Int J Mol Sci. 2022 Jul 28;23(15):8350. doi: 10.3390/ijms23158350.

  372. Comorbidity of Novel CRHR2 Gene Variants in Type 2 Diabetes and Depression. Amin M, Ott J, Gordon D, Wu R, Postolache TT, Vergare M, Gragnoli C. Int J Mol Sci. 2022 Aug 29;23(17):9819. doi: 10.3390/ijms23179819.

  373. Overview of frequent pattern mining. Ott J, Park T. Genomics & Informatics 2022; 20(4):e39. DOI: 10.5808/gi.22074.

  374. A multi-threaded approach to genotype pattern mining for detecting digenic disease genes. Frontiers in Genetics 2023. Zhang Q, Bhatia M, Park T, Ott J. DOI: 10.3389/fgene.2023.1222517.

  375. Digenic Analysis Finds Highly Interactive Genetic Variants Underlying Polygenic Traits. Medical Research Archives 2023, 11(10). Wang G, Ott J.  DOI: 10.18103/mra.v11i10.4604.


  1. Ott J (1979) Ascertainment in the Seattle lipid studies. In: Genetic Analysis of Common Diseases and Applications to Predictive Factors in Coronary Disease, edited by C.F. Sing and M. Skolnick. New York, Alan R. Liss, pp. 383-388

  2. Ott J (1979) Genetic linkage studies in man. Transplant Proc 11, 1689-1691

  3. Weber W, Ott J, Gencik A, Muller Hj (1983) Familial cancer - genetically determined? Anticancer Research 3, 133-142

  4. Ott J (1984) Mathematical models and methods in human pedigree analysis. In: Modeling and Analysis in Biomedicine, edited by C. Nicolini. Singapore, World Scientific Publishing Co, pp. 185-200

  5. Conneally PM, Edwards JH, Kidd KK, Lalouel J-M, Morton NE, Ott J, White R (1985) Report of the committee on methods of linkage analysis and reporting. Cytogenet Cell Genet 40, 356-359

  6. Ott J (1986) A short guide to linkage analysis. In: Analysis of Human Genetic Diseases, edited by Kay Davies, IRL Press, Great Britain

  7. Ott J, Aston C, Baur M, Bishop T, Chakravarti A, Clayton J, Edwards JH, Elston RC, Keats B, Lathrop M, Neugebauer M, Pascoe L (1987) Detection and estimation of linkage, especially multipoint mapping. In: Human Genetics, Proceedings of the 7th International Congress Berlin 1986, Friedrich Vogel and Karl Sperling (eds.). Springer, Berlin and New York, pp. 188-189

  8. Ott J (1988) Letter to the editor. Genomics 3, 91

  9. Lehner T, Sandkuyl LA, Ott J (1989) Linkage analysis for a disease with a complex mode of inheritance in a simulated data set. In: Multipoint Mapping and Linkage Based Upon Affected Pedigree Members: Genetic Analysis Workshop 6 (Elston RC, Spence MA, Hodge SE, MacCluer JW, Eds). New York: Alan R. Liss

  10. Keats B, Ott J, Conneally M (1989) Human Gene Mapping 10 - Report of the committee on linkage and gene order. Cytogenet Cell Genet 51, 459-502

  11. Ott J (1990) Genetic linkage and complex diseases: A comment. Genet Epidemiol 7, 35-36

  12. Ott J (1990) Invited editorial: Cutting a Gordian knot in the linkage analysis of complex human traits. Am J Hum Genet 46, 219-221

  13. Ott J (1990) Genetic interpretation of disease clustering. In: Convergent issues in genetics and demography, edited by J. Adams, D.A. Lam, A.I. Hermalin, and P.E. Smouse. New York: Oxford University Press, pp. 245-255

  14. Keats BJB, Sherman SL, Ott J (1990) Human Gene Mapping 10.5 - Report of the committee on linkage and gene order. Cytogenet Cell Genet 55, 387-94

  15. Baron M, Endicott J, Ott J (1990) Genetic linkage in mental illness. Limitations and prospects. Brit J Psychiatry 157, 645-655

  16. Ott J (1990) Genetic linkage analysis under uncertain disease definition. In Banbury Report 33: Genetics and Biology and Alcoholism, edited by C.R. Cloninger and H. Begleiter. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press, pp. 327-331

  17. Keats BJB, Sherman SL, Morton NE, Robson EB, Buetow KH, Cartwright PE, Chakravarti A, Francke U, Green PP, Ott J (1991) Guidelines for Human Linkage Maps: An International System for Human Linkage Maps (ISLM, 1990). Genomics 9, 557-560

  18. Ott J (1991) Computer simulation methods in human linkage analysis. In: Recent Progress in the Genetic Epidemiology of Cancer, edited by H.T. Lynch and P. Tautu. Berlin: Springer Verlag, pp. 135-139

  19. Lernmark Å, Ducat L, Eisenbarth G, Ott J, Perlmutt MA, Rubinstein P, Spielman R (1991) Human cell lines from families available for diabetes research. Diabetologia 34, 61 (letter to the editor)

  20. Ott J (1991) Computer programs for linkage analysis. In: Recent Progress in the Genetic Epidemiology of Cancer, edited by H.T. Lynch and P. Tautu. Berlin: Springer Verlag, pp. 140-144

  21. Ott J (1991) Principles of human genetic linkage analysis. In: Molecular Genetic Approaches to Neuropsychiatric Diseases, edited by J. Brosius and R.T. Fremeau. New York: Academic Press, pp. 35-53

  22. Ott J, Terwilliger JD (1992) Assessing the evidence for linkage in psychiatric genetics. In: Genetic Research in Psychiatry, edited by J. Mendlewicz and H. Hippius. New York: Springer, pp. 245-249

  23. Ott J (1992) Introductory remarks: genetic models and statistical approaches. Ann Med 24, 375-377

  24. Ott J (1992) The future of multilocus linkage analysis. Ann Med 24, 401-403

  25. LeBeau MM, Overhauser J, Straub RE, Silverman G, Gilliam TC, Ott J, O'Connell P, Francke U, Geurts van Kessel A (1993) Report of the first international workshop on human chromosome 18 mapping. Cytogenet Cell Genet 63, 78-95

  26. Ott J (1993) Recent developments in the theoretical aspects of linkage analysis. In Human Population Genetics, edited by P.P. Majumder. New York: Plenum Press, pp. 165-179

  27. Ott J (1994) Choice of genetic models for linkage analysis of psychiatric traits. In: Genetic Approaches to Mental Disorders, edited by E.S. Gershon and C.R. Cloninger. American Psychiatric Press, Washington DC, pp. 63-75

  28. Vieland VJ, Knowles JA, Fyer AJ, Stefanovich M, Freimer NF, Lish J, Adams P, Woodley K, Rassnick H, Heiman GA, White P, Das K, Klein DF, Ott J, Weissman MM, Gilliam TC (1994) Linkage study of panic disorder: A preliminary report. In: Genetic Approaches to Mental Disorders, edited by E.S. Gershon and C.R. Cloninger. American Psychiatric Press, Washington DC, pp. 345-354

  29. Ott J, Donis-Keller H (1994) Statistical methods in genetic mapping. Genomics 22, 496-497

  30. Shugart YY, Banerjee P, Knowles JA, Lewis CA, Jacobson SG, Matise TC, Penchaszadeh G, Gilliam TC, Ott J (1995) Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet 57, 499-502

  31. Antonarakis SE, Blouin J-L, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch L, Babb R, Kazazian HH, Dombroski B, Kimberland M, Ott J, Housman D, Karayiorgou M, MacLean CJ (1995) Schizophrenia susceptibility and chromosome 6p24-22. Nature Genetics 11, 235-236

  32. Ott J (1995) How do you compute a lod score? Nature Genetics 11, 354-355

  33. Speer MC, Terwilliger JD, Ott J (1995) Data simulation for GAW9 problems 1 and 2. Genet Epidemiol 12, 561-564

  34. Gambacorti-Passerini C, Ott J, Bergen A (1995) The Human Molecular Genetics Network. New Engl J Med 333, 1573

  35. Ott J (1996) Complex traits on the map. Nature 379, 772-773

  36. Pauls DL, Ott J, Paul SM, Allen CR, Fann CSJ, Carulli JP, Falls KM, Bouthillier CA, Gravius TC, Keith TP, Egeland JA, Ginns EI (1996) Chromosome 18 markers: linked or not linked to bipolar affective disorders in the Old Order Amish? A reply to Gershon et al. Am J Hum Genet 58, 1384-1385

  37. Ott J (1996) Human linkage maps. In: Encyclopedia of Molecular Biology and Molecular Medicine, Vol. 3, Meyers RA, ed. VCH Verlagsgesellschaft, Einheim Germany, pp. 233-240

  38. Simonic I, Ott J (1996) Novel etiological hypotheses imply new analysis methods for schizophrenia genetics. Schizophrenia Research 20, 235-237

  39. Ott J (1996) Estimating crossover frequencies and testing for numerical interference with highly polymorphic markers. In: Genetic Mapping and DNA Sequencing, Vol. 81 in “The IMA Volumes in Mathematics and its Applications,” eds. Terry Speed and Michael S. Waterman. New York: Springer, pp 49-63

  40. Shugart YY, Ott J (1996) Using lod score peak length to distinguish true and false positives, in: Proc Eur Math Genet Meeting, Clementi M, Forabusco P, eds. Padova University Press, Padova, Italy, pp. 127-133

  41. Matise TC, Donis-Keller H, Ott J (1996) Statistical methods in genetic mapping. Genomics 36, 223-225

  42. Mérette C, Ott J (1997) Finding and excluding gene locations by linkage analysis. In The Molecular and Genetic Basis of Neurological Disease, second edition, edited by R.N. Rosenberg, S. Prusiner, S. DiMauro, and R.L. Barchi. Boston MA: Butterworth-Heinemann, pp. 29-32

  43. Ott J (1997) Testing for interference in human genetic maps. J Mol Med 75, 414-419

  44. Ott J (1997) Genetic mapping in complex disorders. In Genetic Mapping of Disease Genes, edited by I-H Pawlowitzki, JH Edwards, and EA Thompson. New York: Academic Press, pp. 23-30

  45. Lernmark Å, Eisenbarth G, Ducat L, Erlich HA, Faustman D, Maclaren NK, Ott J, Permutt MA, She J-X, She J-X, Todd J (1997) Family cell lines available for research - an endangered resource? Am J Hum Genet 61, 778-779

  46. Lernmark Å, Ott J (1998) Sometimes it’s hot, sometimes it’s not. Nature Genetics 19, 213-214

  47. Ott J, Lucek P (1998) Complex traits on the map. In Genes and Environment in Cancer, edited by Schwab M, Rabes H, Munk K, Hofschneider PH. Heidelberg: Springer, pp. 285-291

  48. Ott J (1999) Methods of analysis and resources available for genetic trait mapping. J Heredity 90, 68-70

  49. Schaid DJ, Buetow K, Weeks DE, Wijsman E, Guo SW, Ott J, Dahl C (1999) Discovery of cancer susceptibility genes: study designs, analytic approaches, and trends in technology. J Natl Cancer Inst Monogr 26, 1-16

  50. Ott J (2000) Predicting the range of linkage disequilibrium. Proc Natl Acad Sci USA 97, 2-3

  51. Ott J (2001) Major strengths and weaknesses of the lod score method. Adv Genet 42, 125-132

  52. Sherriff A, Ott J (2001) Applications of neural networks for gene finding. Adv Genet 42, 287-297

  53. Nothnagel M, Ott J (2002) Statistical gene mapping of traits in humans---hypertension as a complex trait: Is it amenable to genetic analysis? Semin Nephrol 22, 105-114

  54. Ott J (2004) Association of genetic loci – Replication or not, that is the question (editorial). Neurology 63, 955-958

  55. Hoh, J. and Ott, J. 2009. Scan statistics in genome-wide scan for complex trait loci. In Scan Statistics: Methods and Applications (Statistics for Industry and Technology), Vol 1 (ed. J. Glaz, V. Pozdnyakov, and S. Wallenstein), pp. 197-204. Birkhäuser Boston, Boston

  56. Ott J. 2009. Richard S. Spielman 1946-2009 (obituary). Nature Genetics 41, 1159


Jurg Ott, PhDUpdated 12 March 2024BOOKSOtt J (1999) Analysis of Human Genetic Linkage, 3rd edition. Johns Hopkins University Press, Baltimore, 382 pages. Japanese translation of fi