Published Scientific Papers
Lopez-Alvarenga JC, Melgarejo JD, Rivera-Sanchez J, Velazquez-Alvarez L, Omaña-Guzmán I, Curtis-Lopez C, Pirela RV, Mena LJ, Blangero J, Cavazos JE, Mahaney MC, Terwilliger JD, Lee JH, Maestre GE (2025) Perception of Quality of Life, Brain Regions, and Cognitive Performance in Hispanic Adults: A Canonical Correlation Approach Clin Transl Neurosci 2025, 9(3), 33. Download
Melgarejo JD, Patil D, Charisis S, Vatcheva KP, Mejia-Arango S, Mena LJ, Satizbal CL, Gaona C, Silva E, Manusov E, Lee JH, Terwilliger JD, Gutierrez J, Seshadri S, Maestre GE (2025) Baseline associations of office and ambulatory blood pressure monitoring with cognitive function and dementia prevalence J Alzheimers Dis 2025 Apr; 104(4):1064-1074. Download
Vinogradova E, Jarmukhanov Z, Nurgaziyev M, Kossumov A, Nurgozhina A, Mukhanbetzhanov N, Sergazy S, Chulenabyeva L, Issilbayeva A, Askarova S, Kaiyrlykyzy A, Rakhimova S, Kozhamkulov U, Kairov U, Khassenbekova Z, Tarzhanova D, Akilzhanova A, Lee JH, Terwilliger J, Sailybayeva A, Bekbossynova M, Zhumadilov Z, Kozhakhmetov S, Kushugulova A, (2025) Enterococcus dysbiosis as a mediator of vitamin D deficiency-associated memory impairments. Heliyon 2025 Jan 20; 11(2):e41969. Download
Garza SB, Charisis S, Patil D, Vatcheva KP, Mejia-Arango S, Mena LJ, Alliey-Rodriguez N, Satizabal CL, Chavez CA, Gaona C, Silva E, Lee JH, Terwilliger JD, Gutierrez J, Seshadri S, Maestre GE, Melgarejo JD. (2025) Sex‐Differences in the Association of 24‐h Blood Pressure Level and Variability with Subclinical Markers of Cerebral Small Vessel Disease. Alzheimers Dement. 2025 Jan 9;20(Suppl 7):e089898 Download
Pirela-Mavarez RP, Xu C, Terwilliger JD, Garza N, Reyes R, Oropeza O, Manusov EG, Maestre CA, Alliey-Rodriguez N, Mejia-Arango S, Melgarejo JD, de la Garza-Parker C, de Erasquin GA, Gil M, Escobar R, Patel NK, Seshadri S, Maestre GE (2025) Key issues in recruitment for minority aging research in humanitarian settings. Alzheimers Dement. 2025 Jan 9;20(Suppl 7):e090987. Download
Melgarejo JD, Charisis S, Patil D, Vatcheva KP, Mejia-Arango S, Mena LJ, Alliey-Rodriguez N, Satizabal CL, Chavez CA, Gaona C, Silva E, Calmon G, Lee JH, Terwilliger JD, Gutierrez J, Seshadri S, Maestre GE. (2025) Association of Cognitive Function with Mortality and Cardiovascular Risk. Alzheimers Dement
. 2025 Jan 9;20(Suppl 7):e089353. Download
Melgarejo JD, Vatcheva KP, Mejia-Arango S, Charisis S, Patil D, Mena LJ, Garcia A, Alliey-Rodriguez N, Satizabal CL, Chavez CA, Gaona C, Silva E, Mavarez RP, Lee JH, Terwilliger JD, Blangero J, Seshadri S, Maestre GE. (2024) Association of longitudinal changes in 24-h blood pressure level and variability with cognitive decline. J Hypertens. 2024 Nov 1(11):1985-1993. Download
Sharip A, Rakhimova S, Molkenov A, Ashenova A, Kozhamkulov U, Akhmetollayev I, Zinovyev A, Zhukov Y, Omarov M, Tuleutaev M, Rakhmetova V, Terwilliger JD, Lee JH, Zhumadilov Z, Akilzhanova A, Kairov U.(2024) Transcriptome profiling and analysis of patients with esophageal squamous cell carcinoma from Kazakhstan. Front Genet. 2024 Mar 18;15:1249751 Download
Melgarejo JD, Patil D, Mena LJ, Vatcheva KP, Garcia JA, Satizabal CL, Chavez CA, Pirela RV, Silva E, Calmon G, Lee JH, Terwilliger JD, Seshadri S, Maestre GE. (2024) Association of Variability and Hypertensive Loads in 24-h Blood Pressure With Mortality and Cardiovascular Risk. Am J Hypertens. 2024 Apr 15;37(5):323-333. Download
Terwilliger JD (2022) Gene Mapping and Human Disease. in Genetics of Substance Use: Research and Clinical Aspects (Ed. Vanyukov M) – Springer. – Download
Sarin HV, Hulmi JJ, Qin Y, Inouye M, Ritchie SC, Cheng S, Watrous JD, Nguyen TC, Lee JH, Jin Z, Terwilliger JD, Niiranen T, Havulinna A, Salomaa V, Pietiläinen KH, Isola V, Ahtiainen JP, Häkkinen K, Jain M, Perola M. (2022) Substantial Fat Loss in Physique Competitors Is Characterized by Increased Levels of Bile Acids, Very-Long Chain Fatty Acids, and Oxylipins. Metabolites 2022 Sep 30:12(10):928 Download
Melgarejo JD, Maestre GE, Gutierrez J, Thijs L, Mena LJ, Gaona C, Leendertz R, Lee JH, Chávez CA, Calmon G, Silva E, Wei D, Terwilliger JD, Vanassche T, Janssens S, Verhamme P, Bos D, Zhang ZY. (2022) Subclinical Magnetic Resonance Imaging Markers of Cerebral Small Vessel Disease in Relation to Office and Ambulatory Blood Pressure Measurements. Front Neurol 2022 Jul 14:13:908260 Download
Kairov U, Molkenov A, Sharip A, Rakhimova S, Seidualy M, Rhie A, Kozhamkulov U, Zhabagin M, Kim JI, Lee JH, Terwilliger JD, Seo JS, Zhumadilov Z, Akilzhanova A. (2022) Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals. Front Genet 2022, 13:902804 Download
Melgarejo JD, Eijgen JV, Maestre GE, Al-Aswad LA, Thijs L, Mena LJ, Lee JH, Terwilliger JD, Petitto M, Chávez CA, Brito M, Calmon G, Silva E, Wei DM, Cutsforth E, Keer KV, Gustavo De Moraes C, Vanassche T, Janssens S, Stalmans I, Verhamme P, Staessen JA, Zhang ZY. (2022) Open-Angle Glaucomatous Optic Neuropathy Is Related to Dips Rather Than Increases in the Mean Arterial Pressure Over 24-H. Am J Hypertens 2022 Aug 1:35(8):703-714 Download
Arteaga-Bracho EE, Melgarejo JD, Chavez CA, Terwilliger JD, Lee JH, Pino-Ramirez G, Maestre GE (2021) Cognitive domains in low-literacy populations: The experience of the Maracaibo Aging Study. In “Understanding the Context of Cognitive Aging: Mexico and the United States” (Eds. Angel JL and Ortega, ML). Springer. Download
Melgarejo JD, Maestre GE, Mena LJ, Lee JH, Petitto M, Chávez CA, Calmon G, Silva E, Thijs L, Al-Aswad LA, Terwilliger JD, De Moraes CG, Wei FF, Vanassche T, Verhamme P, Staessen JA, Zhang ZY. (2021) Normal-tension glaucomatous optic neuropathy is related to blood pressure variability in the Maracaibo Aging Study. Hypertens Res 2021 Sep:44(9):1105-1112 Download
Maestre GE, Pirela RV, Paz CL, Melgarejo JD, Mena LJ, Chavez CA, Leendertz R, Petitto M, Silva E, Calmón GE, Al-Aswad L, Lee JH, Terwilliger JD. (2021) Research on aging during the Venezuelan humanitarian crisis: the experience of the Maracaibo aging study. BMC Public Health 2021 Mar 9:21(1):473 Download
Castro F, Melgarejo J, Chavez CA, de Erausquin GA, Terwilliger JD, Lee JH, Maestre GE. (2021) Total Plasma Homocysteine and Depressive Symptoms in Older Hispanics. J Alzheimers Dis 2021: 82(s1):S263-S269 Download
Melgarejo JD, Aguirre-Acevedo DC, Gaona C, Chavez CA, Calmon GE, Silva ER, de Erasquin GA, Gil M, Mena LJ, Terwilliger JD, Arboleda H, Scarmeas N, Lee JH, Maestre GE (2020) Nighttime Blood Pressure Interacts with APOE Genotype to Increase the Risk of Incident Dementia of the Alzheimer’s Type in Hispanics. J Alzheimers Dis 2020: 77(2):569-579. Download
Sarin HV, Gudelj I, Honkanen J, Ihalainen JK, Vuorela A, Lee JH, Jin Z, Terwilliger JD, Isola V, Ahtiainen JP, Häkkinen K, Jurić J, Lauc G, Kristiansson K, Hulmi JJ, Perola M. (2019) Molecular Pathways Mediating Immunosuppression in Response to Prolonged Intensive Physical Training, Low-Energy Availability, and Intensive Weight Loss. Front Immunol. 2019 May 3;10:907 Download
Sarin HV, Lee JH, Jauhiainen M, Joensuu A, Borodulin K, Männistö S, Jin Z, Terwilliger JD, Isola V, Ahtiainen JP, Häkkinen K, Kristiansson K, Hulmi JJ, Perola M. (2019) Substantial fat mass loss reduces low-grade inflammation and induces positive alteration in cardiometabolic factors in normal-weight individuals. Sci Rep. 2019 Mar 5;9(1):3450 Download
Kettunen J, Joensuu A, Hagnäs M, Mikkola I, Wennerström A, Lee JH, Terwilliger JD, Borodulin K, Jousilahti P, Jauhiainen M, Jokelainen JJ, Keinänen-Kiukaanniemi S, Perola M. (2019) Associations of increased physical performance and change in body composition with molecular pathways of heart disease and diabetes risk. Am J Physiol Endocrinol Metab. 2019 Feb 1;316(2):E221-E229 Download
De Moraes CG, Pettito M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Zaidi MB, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE. (2018) Corrigendum: Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients. JMM Case Rep. 2018 Aug 31;5(8):e005161. Download
Zaidi MB, De Moraes CG, Petitto M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE. (2018) Non-congenital severe ocular complications of Zika virus infection. JMM Case Rep. 2018 May 14;5(6):e005152. Download
Méndez AS, Melgarejo JD, Mena LJ, Chávez CA, González AC, Boggia J, Terwilliger JD, Lee JH, Maestre GE. (2018) Risk Factors for Orthostatic Hypotension: Differences Between Elderly Men and Women. Am J Hypertens. 2018 Jun 11;31(7):797-803. Download
De Moraes CG, Pettito M, Yepez JB, Sakuntabhai A, Simon-Loriere E, Zaidi MB, Prot M, Ruffie C, Kim SS, Allikmets R, Terwilliger JD, Lee JH, Maestre GE. (2018) Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients. JMM Case Rep. 2018 Mar 14;5(5):e005145. Download
Melgarejo JD, Lee JH, Petitto M, Yépez JB, Murati FA, Jin Z, Chávez CA, Pirela RV, Calmón GE, Lee W, Johnson MP, Mena LJ, Al-Aswad LA, Terwilliger JD, Allikmets R, Maestre GE, De Moraes CG. (2018) Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study. Ophthalmology. 2018 Jun;125(6):807-814. Download
Maestre GE, Mena LJ, Melgarejo JD, Aguirre-Acevedo DC, Pino-Ramírez G, Urribarrí M, Chacon IJ, Chávez CA, Falque-Madrid L, Gaona CA, Terwilliger JD, Lee JH, Scarmeas N. Incidence of dementia in elderly Latin Americans: Results of the Maracaibo Aging Study. Alzheimers Dement. 2018 Feb;14(2):140-147. Download
Misiewicz Z, Hiekkalinna T, Paunio T, Varilo T, Terwilliger JD, Partonen T, Hovatta I. (2016) A genome-wide screen for acrophobia susceptibility loci in a Finnish isolate. Sci Rep. 2016 Dec 20;6:39345 Download
Gertz EM, Hiekkalinna T, Le Digabel S, Audet C, Terwilliger JD, Schäffer AA. (2014) PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD. BMC Bioinformatics 15:47 Download
Luukonen TM, Pöyhönen M, Palotie A, Ellonen P, Lagström S, Lee JH, Terwilliger JD, Salonen R, Varilo T. (2012) A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm. J Med Genet 49:621-629. Download
Parmalee NL, Schubert C, Figueroa M, Bird AC, Peto T, Gillies MC, Bernstein PS, Kiryluk K, Terwilliger JD, Allikmets R, MacTel Project. (2012) Identification of a potential susceptibility locus for macular telangiectasia type 2. PLoS One 7:e24268. Download
Hiekkalinna T, Göring HH, Lambert B, Weiss KM, Norrgrann P, Schäffer AA, Terwilliger JD. (2012) On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples. Eur J Hum Genet. 20:217-223. Download
Hiekkalinna T, Göring HH, Terwilliger JD. (2012) On the Validity of the Likelihood Ratio Test and Consistency of Resulting Parameter Estimates in Joint Linkage and Linkage Disequilibrium Analysis under Improperly Specified Parametric Models. Ann Hum Genet.76(1):63-73. Download
Hiekkalinna T, Schäffer AA, Lambert B, Norrgrann P, Göring HH, Terwilliger JD.(2011) PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals. Hum Hered. 71(4):256-266. Download
Sipilä T, Kananen L, Greco D, Donner J, Silander K, Terwilliger JD, Auvinen P, Peltonen L, Lönnqvist J, Pirkola S, Partonen T, Hovatta I. (2010) An association analysis of circadian genes in anxiety disorders. Biol Psychiatry.67(12):1163-1170. Download
Donner J, Haapakoski R, Ezer S, Melén E, Pirkola S, Gratacòs M, Zucchelli M, Anedda F, Johansson LE, Söderhäll C, Orsmark-Pietras C, Suvisaari J, Martín-Santos R, Torrens M, Silander K, Terwilliger JD, Wickman M, Pershagen G, Lönnqvist J, Peltonen L, Estivill X, D’Amato M, Kere J, Alenius H, Hovatta I. (2010) Assessment of the neuropeptide S system in anxiety disorders. Biol Psychiatry 68:474-483. Download
Paunio T, Arajärvi R, Terwilliger JD, Hiekkalinna T, Haimi P, Partonen T, Lönnqvist J, Peltonen L, Varilo T. (2009) Linkage analysis of schizophrenia controlling for population substructure. Am J Med Genet B Neuropsychiatr Genet. 150B(6):827-835. Download
Mann JJ, Arango VA, Avenevoli S, Brent DA, Champagne FA, Clayton P, Currier D, Dougherty DM, Haghighi F, Hodge SE, Kleinman J, Lehner T, McMahon F, Mościcki EK, Oquendo MA, Pandey GN, Pearson J, Stanley B, Terwilliger J, Wenzel A. (2009) Candidate endophenotypes for genetic studies of suicidal behavior. Biol Psychiatry. 65(7):556-563. Download
Terwilliger JD, Göring HH. (2009) Update to Terwilliger and Göring’s “Gene mapping in the 20th and 21st centuries” (2000): Gene mapping when rare variants are common and common variants are rare. Hum Biol. 81(5-6):729-733. Download
Terwilliger JD, Göring HH. (2009) Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. 2000. Hum Biol. 81(5-6):663-728. Download
Donner J, Pirkola S, Silander K, Kananen L, Terwilliger JD, Lönnqvist J, Peltonen L, Hovatta I. (2008) An association analysis of murine anxiety genes in humans implicates novel candidate genes for anxiety disorders. Biol Psychiatry. 64(8):672-680. Download
Lambert BW, Terwilliger JD, Weiss KM. (2008) ForSim: a tool for exploring the genetic architecture of complex traits with controlled truth. Bioinformatics. 24(16):1821-1822. Download
Anttila V, Nyholt DR, Kallela M, Artto V, Vepsäläinen S, Jakkula E, Wennerström A, Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Widön E, Terwilliger J, Merikangas K, Montgomery GW, Martin NG, Daly M, Kaprio J, Peltonen L, Färkkilä M, Wessman M, Palotie A. (2008) Consistently replicating locus linked to migraine on 10q22-q23. Am J Hum Genet. 82(5):1051-1063. Download
Enattah NS, Trudeau A, Pimenoff V, Maiuri L, Auricchio S, Greco L, Rossi M, Lentze M, Seo JK, Rahgozar S, Khalil I, Alifrangis M, Natah S, Groop L, Shaat N, Kozlov A, Verschubskaya G, Comas D, Bulayeva K, Mehdi SQ, Terwilliger JD, Sahi T, Savilahti E, Perola M, Sajantila A, Järvelä I, Peltonen L. (2007) Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans. Am J Hum Genet. 81(3):615-625. Download
Hennah W, Tomppo L, Hiekkalinna T, Palo OM, Kilpinen H, Ekelund J,Tuulio-Henriksson A, Silander K, Partonen T, Paunio T, Terwilliger JD, Lönnqvist J, Peltonen L. (2007) Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1. Hum Mol Genet. 16(5):453-462. Download
Terwilliger J, Lee J (2006) Natural experiments in human gene mapping: the intersection of anthropological genetics and genetic epidemiology. In “Anthropological Genetics: Theory, Methods and Applications” (Ed. Crawford MH). Cambridge University Press. Download
Kaunisto MA, Kallela M, Hämäläinen E, Kilpikari R, Havanka H, Harno H, Nissilä M, Säkö E, Ilmavirta M, Liukkonen J, Teirmaa H, Törnwall O, Jussila M, Terwilliger J, Färkkilä M, Kaprio J, Palotie A, Wessman M. (2006) Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura. Cephalalgia 26:1462-1472. Download
Anttila V, Kallela M, Oswell G, Kaunisto MA, Nyholt DR, Hamalainen E, Havanka H, Ilmavirta M, Terwilliger J, Sobel E, Peltonen L, Kaprio J, Farkkila M, Wessman M, Palotie A. (2006) Trait components provide tools to dissect the genetic susceptibility of migraine. Am J Hum Genet. 79(1):85-99. Download
Li Z, Szabolcs M, Terwilliger JD, Efstratiadis A. (2006) Prostatic intraepithelial neoplasia and adenocarcinoma in mice expressing a probasin-Neu oncogenic transgene. Carcinogenesis. 27(5):1054-1067. Download
Terwilliger JD, Hiekkalinna T. (2006) An utter refutation of the “fundamental theorem of the HapMap”. Eur J Hum Genet. 14(4):426-437. (This paper won the award for best paper of the year in the European Journal of Human Genetics) Download
Hiekkalinna T, Terwilliger JD, Sammalisto S, Peltonen L, Perola M. (2005) AUTOGSCAN: powerful tools for automated genome-wide linkage and linkage disequilibrium analysis. Twin Res Hum Genet. 8(1):16-21 Download
Terwilliger JD (2004) Science and engineering and their different roles in investigations of the genetic portion of the etiology of complex human traits. Genomics and Informatics 2:1-6 Download
Imanishi T, Itoh T, Suzuki Y, O’Donovan C, Fukuchi S, Koyanagi KO, Barrero RA, Tamura T, Yamaguchi-Kabata Y, Tanino M, Yura K, Miyazaki S, Ikeo K, Homma K, Kasprzyk A, Nishikawa T, Hirakawa M, Thierry-Mieg D, Ashurst J, Jia L, Nakao M, Thomas MA, Mulder N, Karavidopoulou Y, Jin L, Kim S, Yasuda T, Lenhard B, Eveno E, Suzuki Y, Yamasaki C, Takeda J, Gough C, Hilton P, Fujii Y, Sakai H, Tanaka S, Amid C, Bellgard M, de Fatima Bonaldo M, Bono H, Bromberg SK, Brookes A, Bruford E, Carnici P, Chelala C, Couillault C, de Souza SJ, Debilly M-A, Devignes M-D, Dubchak I, Endo T, Estreicher A, Eyras E, Fukami-Kobayashi K, Gopinathrao G, Graudens E, Hahn Y, Han M, Han Z, Hanada K, Hanaoka H, Harada E, Hashimoto K, Hinz U, Hirai M, Hishiki T, Hopkinson I, Imbeaud S, Inoko H, Kanapin A, Kaneko Y, Kasukawa T, Kelso J, Kersey P, Kikuno R, Kimura K, Korn B, Kuryshev V, Makalowska I, Makino T, Mano S, Mariage-Samson R, Mashima J, Matsuda H, Mewes H-W, Minoshima S, Nagai K, Nagasaki H, Nagata N, Nigam R, Ogasawara O, Ohara O, Ohtsubo M, Okada N, Okido T, Oota S, Ota M, Ota T, Otsuki T, Piatier-Tonneau D, Poustka A, Ren SX, Saitou N, Sakai K, Sakamoto S, Sakate R, Schupp I, Servant F, Sherry S, Shiba R, Shimizu N, Shimoyama M, Simpson AJ, Soares B, Steward C, Suwa M, Suzuki M, Takahashi A, Tamiya G, Tanaka H, Taylor T, Terwilliger JD, Unneberg P, Veeramachaneni V, Watanabe S, Wilming L, Yasuda N, Yoo H-S, Stodolsky M, Makalowski W, Go M, Nakai K, Takagi T, Kanehisa M, Sakaki Y, Quackenbush J, Okazaki Y, Hayashizaki Y, Hide W, Chakraborty R, Nishikawa K, Sugawara H, Tateno Y, Chen Z, Oishi M, Tonellato P, Apweiler R, Okubo K, Wagner L, Wiemann S, Strausberg RL, Isogai T, Auffray C, Nomura N, Gojobori T, Sugano S. (2004) Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones. PloS Biol 2(6): e166. Download
Terwilliger JD, Weiss KM (2003) Confounding, Ascertainment Bias, and the Blind Quest for a Genetic “Fountain of Youth”. Ann Med 35:532-544. Download
Varilo T, Paunio T, Parker A, Perola M, Meyer J, Terwilliger JD, Peltonen L (2003) The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories. Hum Molec Genet 12:51-59. Download
Yonan AL, Alarcon M, Cheng R, Magnusson PKE, Spence SJ, Palmer AA, Grunn A, Juo SHH, Terwilliger JD, Liu JJ, Cantor RM, Geschwind DH, Gilliam TC (2003) A genomewide screen of 245 families for autism-susceptibility loci. Am J Hum Genet 73:886-897 Download
Liu JJ, Juo SH, Holopainen P, Terwilliger JD, Tong X, Grunn A, Brito M, Green P, Mustalahti K, Mäki M, Gilliam TC, Partanen J (2002) Genome wide linkage analysis of celiac disease in Finnish families. Am J Hum Genet 70:51-59. Download
Terwilliger JD, Haghighi F, Hiekkalinna TS, Göring HHH (2002) A “bias”-ed assessment of the use of SNPs in human complex traits. Curr Opin Gen Dev 12:726-734. Download
Terwilliger JD, Göring HHH, Magnusson PKE, Lee JH (2002) Study design for genetic epidemiology and gene mapping: The Korean diaspora project. 生命科学研究 (Life Science Research) 6:95-115 Download
Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I (2002) Identification of a variant associated with adult type hypolactasia. Nat Genet 30:233-237. Download
Göring HHH, Terwilliger JD, Blangero J (2001) Large Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans. Am J Hum Genet 69:1357-1369. Download
Sokolová J, Janošíkova B, Terwilliger JD, Freiberger T, Kraus JP, Kožich V (2001) Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Human Mutation 18:548-549. Download
Almasy L, Terwilliger JD, Nielsen D, Dyer TD, Zaykin D, Blangero J (2001) GAW12: Simulated genome scan, sequence, and family data for a common disease. Genetic Epidemiol 21:S332-S338. Download
Thomas DC, Borecki IB, Thomson G, Weiss K, Almasy L, Blangero J, Nielsen D, Terwilliger J, Zaykin D, MacCluer J (2001) Evolution of the simulated data problem. Genetic Epidemiol 21:S325-S331. Download
Paunio T, Ekelund J, Varilo T, Parker A, Hovatta I, Turunen J, Rinard K, Foti A, Terwilliger JD, Juvonen H, Suvisaari J, Arajärvi R, Suokas J, Partonen T, Lönnqvist J, Meyer J, Peltonen L (2001) Genome-wide scan in a nation-wide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosome 2q and 5q. Hum Molec Genet 10:3037-3048. Download
Paavola P, Heliö T, Kiuru M, Halme L, Turunen U, Terwilliger J, Karvonen A-L, Julkunen R, Niemelä S, Nurmi H, Färkkilä M, Kontula K (2001) Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21. Eur J Hum Genet 9:328-334 Download
Liu JJ, Juo SH, Terwilliger JD, Grunn A, Tong XM, Brito M, Loth JE, Kanyas K, Lerer B, Endicott J, Penchaszadeh G, Gilliam TC, Baron M (2001) A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22. Am J Med Genet 105:189-194. Download
Lupu F, Terwilliger JD, Lee K, Segre GV, Efstratiadis A (2001) Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth. Developmental Biology 229:141-162. Download
Terwilliger JD (2001) On the resolution and feasibility of genome scanning approaches. Adv Genet 42:351-391. Download
Pajukanta P, Cargill M, Viitanan L, Nuotio I, Kareinen A, Perola M, Terwilliger JD, Kempas E, Daly M, Lilja M, Rioux J, Brettin T, Viikari JSA, Rönnenmaa T, Laakso M, Lander ES, Peltonen L (2000) Two loci on chromosomes 2 and X for premature coronary heart disease identified in early and late settlement populations of Finland. Am J Hum Genet 67:1481-1493 Download
Moses EK, Lade JA, Guo G, Wilton AN, Grehan M, Freed K, Borg A, Terwilliger JD, North R, Cooper DW, Brennecke SP (2000) A Genome Scan in Families from Australia and New Zealand Confirms the Presence of a Maternal Susceptibility Locus for Pre-Eclampsia, on Chromosome 2. Am J Hum Genet 67 1581-1585. Download
Terwilliger JD (2000) Inflated false-positive rates in Hardy-Weinberg and linkage-equilibrium tests due to sampling on the basis of rare familial phenotypes in finite populations. Am J Hum Genet 67:258-259 Download
Terwilliger JD (2000) Reply to Deng and Chen. Am J Hum Genet 67:261-262 Download
Göring HHH, Terwilliger JD (2000) Linkage analysis in the presence of errors IV: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified. Am J Hum Genet 66:1310-1327 Download
Göring HHH, Terwilliger JD (2000) Linkage analysis in the presence of errors III: Marker loci and their map as nuisance parameters. Am J Hum Genet 66:1298-1309 Download
Göring HHH, Terwilliger JD (2000) Linkage analysis in the presence of errors II: Marker-locus genotyping errors modeled with hypercomplex recombination fractions. Am J Hum Genet 66:1107-1118 Download – Errata listed here
Göring HHH, Terwilliger JD (2000) Linkage analysis in the presence of errors I: Complex-valued recombination fractions and complex phenotypes. Am J Hum Genet 66:1095-1106 Download – Errata listed here
Varilo T, Laan M, Hovatta IM, Wiebe V, Terwilliger JD, Peltonen L (2000) Linkage disequilibrium in isolated populations: Finland and a young subpopulation of Kuusamo. Eur J Hum Genet 8:604-612 Download
Weiss KM, Terwilliger JD (2000) How many diseases do you have to study to map one gene with SNPs? Nat Genet 26:151-158. Download
Terwilliger JD (2000) A likelihood-based extended admixture model of oligogenic inheritance in “model-based” or “model-free” analysis. Eur J Hum Genet 8:399-406. Download
Ekelund J, Lichtermann D, Hovatta I, Ellonen P, Suvisaari J, Terwilliger JD, Juvonen H, Varilo T, Arajärvi R, Kokko-Sahin M-L, Lönnqvist J, Peltonen L. (2000) Genome-wide scan for schizophrenia in the Finnish population: Evidence for a locus on chromosome 7q22. Hum Molec Genet 9:1049-1057. Download
Lindqvist AKB, Steinsson K, Johanneson B, Kristjánsdóttir H, Àrnasson A, Gröndal G, Jonasson I, Magnusson V, Sturfelt G, Truedsson L, Svenungsson E, Lundberg I, Terwilliger JD, Gyllensten UB, Alarcón-Riquelme ME (2000) A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimm 14:169-178. Download
Magnusson V, Lindqvist AK, Castillejo-Lopez C, Kristjansdottir H, Steinsson K, Grondal G, Sturfelt G, Truedsson L, Svenungsson E, Lundberg I, Gunnarsson I, Bolstad AI, Haga HJ, Jonsson R, Klareskog L, Alcocer-Varela J, Alarcon-Segovia D, Terwilliger JD, Gyllensten UB, Alarcon-Riquelme ME (2000) Fine Mapping of the SLEB2 Locus Involved in Susceptibility to Systemic Lupus Erythematosus. Genomics 70:307-314 Download
Perola M, Kainulainen K, Pajukanta P, Terwilliger JD, Hiekkalinna T, Ellonen P, Kaprio J, Koskenvuo M, Kontula K, Peltonen L (2000) Genome-wide scan of predisposing loci for increased diastolic blood pressure in Finnish siblings. J Hypertension 18:1579-1585 Download
Terwilliger JD, Göring HHH (2000) Gene mapping in the 20th and 21st centuries: Statistical methods, data analysis, and experimental design. Hum Biol 72:63-132. (This paper was the winner of the Gabriel Lasker award for best paper of the year in Human Biology) Download
Leppavuori J, Kujala U, Kinnunen J, Kaprio J, Nissila M, Heliovaara M, Klinger N, Partanen J, Terwilliger JD, Peltonen L (1999) Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: Evidence for a locus on 2q. Am J Hum Genet 65:1060-1067. Download
Hovatta IM, Varilo T, Suvisaari J, Terwilliger JD, Ollikainen V, Arajarvi R, Juovinen H, Kokko Sahin ML, Vaisanen L, Mannila H, Lonnqvist J, Peltonen L (1999) A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation suggesting multiple susceptibility loci. Am J Hum Genet 65:1114-1124. Download
Pajukanta P, Terwilliger JD, Perola M, Hiekkalinna T, Nuotio I, Ellonen P, Parkkonen M, Hartiala J, Porkka K, Laakso M, Viikari J, Ehnholm C, Taskinen MR, Peltonen L (1999) Genome-wide scan for familial combined hyperlipidemia genes in Finnish families suggesting multiple susceptibility loci influencing triglycerides, cholesterol, and apolipoprotein B levels. Am J Hum Genet 64:1453-1463. Download
Aita VM, Liu JJ, Knowles JA, Terwilliger JD, Baltazar R, Grunn A, Loth JE, Kanyas K, Lerer B, Endicott J, Wang ZY, Penchaszadeh G, Gilliam TC, Baron M (1999) A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet 64:210-217. Download
Nakagawa M. Takashima H, Suehara M, Saito M, Saito A, Kanzato N, Matsuzaki T, Hirata K, Izumo S, Terwilliger JD, Osame M. (1999) Hereditary motor and sensory neuropathy with proximal dominant involvement: Clinical, pathological, and genetic features. Ann NY Acad Sci 883:449-452. Download
Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kansato N, Matsuzaki T, Hirata K, Terwilliger JD, Osame M (1999) Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscular Disord 9:368-371. Download
Kainulainen K, Perola M, Terwilliger JD, Kaprio J, Koskenvuo M, Syvanen AC, Vartiainen E, Peltonen L, Kontula K (1999) The renin-angiotensin system in essential hypertension: Evidence for involvement of the angiotensin receptor type-I gene in Finnish patients. Hypertension 33:844-849. Download
Terwilliger JD (1998) Linkage analysis – Model Based. In: Encyclopedia of Biostatistics. New York, NY: Wiley. Download
Pekkarinen P, Hovatta IM, Hakola P, Järvi O, Kestilä M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjærg L, Terwilliger JD, Lönnqvist J, Peltonen L (1998) Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Am J Hum Genet 62:362-372. Download
Pekkarinen P, Kestila M, Paloneva J, Terwilliger JD, Varilo T, Jarvi O, Hakola P, Peltonen L (1998) Fine-scale mapping of a novel dementia gene, PLO-SL, by linkage disequilibrium. Genomics 54:307-315. Download
Pastinen T, Perola M, Nuni P, Terwilliger JD, Salomaa V, Vartiainen E, Peltonen L, Syvanen AC (1998) Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population. Hum Molec Genet 7:1453-1462. Download
Lichtermann D, Hovatta IM, Terwilliger JD, Peltonen L, Lonnqvist J (1998) Concordance for sex and the pseudoautosomal gene hypothesis revisited: No evidence of increased sex concordance in a nationwide Finnish sample of siblings with paternally derived schizophrenia. Am J Psychiatry 155:1365-1375. Download
Hovatta IM, Lichtermann D, Juvonen H, Suvisaari J, Terwilliger JD, Arajarvi R, Kokko-Sahin ML, Ekelund J, Lonnqvist J, Peltonen L (1998) Linkage analysis of putative schizophrenia candidate regions on chromosomes 3p, 5q, 6p, 8p, 20p, and 22q in a population-based sampled Finnish family set. Mol Psychiatry 3:452-457. Download
Terwilliger JD, Weiss KM (1998) Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr Opin Biotechnol 9: 578-594. Download
Terwilliger JD, Zöllner S, Laan M, Pääbo S (1998) Mapping genes through the use of linkage disequilibrium generated by genetic drift: ‘Drift mapping’ in small populations with no demographic expansion. Hum Hered 48:138-154. Download
Pajukanta P, Nuotio I, Terwilliger JD, Porkka KVK, Ylitalo K, Pihjalamaki J, Suomalainen AJ, Syvanen AC, Lehtimaki T, Viikari JSA, Laakso M, Taskinen MR, Ehnholm C, Peltonen L (1998) Linkage of familial combined hyperlipidemia to chromosome 1q21-q23. Nat Genet 18:369-373. Download
Terwilliger JD, Shannon WD, Lathrop GM, Nolan JP, Goldin LR, Chase GA, Weeks DE (1997) True and false positive peaks in genomewide scans: Applications of length-biased sampling to linkage mapping. Am J Hum Genet 61:430-438. Download
Terwilliger JD (1997) Review of: Genetic variation and human disease: Principles and evolutionary approaches. Am J Hum Genet 60:1565-1566. Download
Terwilliger JD (1997) Mapping Genes Predisposing to Complex Traits in Extreme Population Isolates. CSC News 2/1997 23-25 Download
Kuokkanen S, Gschwend M, Rioux JD, Daly MJ, Terwilliger JD, Tienari PJ, Wikström J, Palo J, Stein LD, Hudson TJ, Lander ES, Peltonen L (1997) Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 61:1379-1387. Download
Julier C, Delepine M, Keavney B, Terwilliger JD, Davis S, Weeks DE, Bui T, Jeunemaitre X, Velho G, Froguel P, Ratcliffe P, Corvol P, Soubrier F, Lathrop GM (1997) Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Hum Molec Genet 6:2077-2086. Download
Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RDR, Frodsham A, Browne J, Barber R, Terwilliger JD, Lathrop GM, Barker JNWN (1997) Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two-stage genome-wide search in psoriasis. Hum Molec Genet 6:813-820. Download
Hovatta IM, Terwilliger JD, Lichtermann D, Makikyro T, Suvisaari J, Peltonen L, Lonnqvist J (1997) Schizophrenia in the genetic isolate of Finland. Am J Med Genet 74:353-360. Download
Lathrop GM, Terwilliger JD, Weeks DE (1996) Multifactorial inheritance and genetic analysis of multifactorial disease. In: Rimoin DL, Connor JM, Pyeritz RE (Eds) Emery and Rimoin’s Principles and Practice of Medical Genetics. New York: Churchill-Livingstone. pp. 333-346. Download
Terwilliger JD (1996) Likelihood ratio tests for linkage and linkage disequilibrium: Asymptotic distribution and power – Reply. Am J Hum Genet 58:1095-1096. Download
Satsangi J, Parkes M, Louis E, Hashimoto L, Kato N, Welsh K, Terwilliger JD, Lathrop GM, Bell JI, Jewell DP (1996) Two-stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7, and 12. Nat Genet 14:199-202. Download
Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J, Holmdahl R, Petterson U, Peltonen L (1996) A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet 13:477-480. Download
Haberhausen G, Schmitt I, Kohler A, Peters U, Rider S, Chelly J, Terwilliger JD, Monaco AP, Muller U (1995) Assignment of the dystonia-parkinsonism syndrom locus DYT3, to a small region within a 1.8-Mb contig of Xq13.1. Am J Hum Genet 57:644-650. Download
Nikali K, Suomalainen A, Terwilliger JD, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal segments in four affected individuals: The assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095. Download
Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56:777-787. Download
Raha-Choudhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, Robson KJH, Bonford A, Worwood M (1995) New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Molec Genet 4:1869-1874. Download
Pekkarinen P, Terwilliger JD, Bredbacka PE, Lonnqvist J, Peltonen L (1995) Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. Gen Res 5:105-115. Download
Hovnanian A, Hilal L, Blanchet-Bardon C, Bodemer C, deProst Y, Stark CA, Christiano AM, Dommergues M, Terwilliger JD, Izquierdo L, Conteville P, Dumez Y, Uitto J, Goossens M (1995) DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 104: 456-461. Download
Vaxillaire M, Boccio V, Philippi A, Vigoroux C, Terwilliger JD, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P (1995) A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet 9:418-423. Download
Speer MC, Terwilliger JD, Ott J (1995) Data simulation for GAW9 problems 1 and 2. Genet Epidemiol 12:561-564. Download
Terwilliger JD, Ott J (1994) Handbook of Human Genetic Linkage. Johns Hopkins University Press. Baltimore. Download
Schork NJ, Boehnke M, Terwilliger JD, Ott J (1994) 2-Locus versus one-locus lods for complex traits – reply. Am J Hum Genet 55: 856-858. Download
James MR, Richard CW, Schott JJ, Yousry C, Clark K, Bell J, Terwilliger JD, Hazan J, Dubay C, Vignal A, Agrapart M, Imai T, Nakamura Y, Polymeropoulos M, Weissenbach J, Cox DR, Lathrop GM (1994) A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nat Genet 8:70-76. Download
Tienari PJ, Terwilliger JD, Ott J, Palo J, Peltonen L (1994) Two-locus linkage analysis in multiple sclerosis. Genomics 19:320-325. Download
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. Download
Terwilliger JD, Speer MC, Ott J (1993) Chromosome-based method for rapid computer simulation in human genetic linkage analysis. Genet Epidemiol 10:217-224. Download
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. Download
Bunge S, Wedermann H, David D, Terwilliger JD, van den Born LI, Aulehla-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. Download
Ott J, Terwilliger JD (1992) Assessing the evidence for linkage in psychiatric genetics. In: Mendlewicz J, Hippius H (Eds) Genetic Research in Psychiatry. Springer-Verlag: Berlin, pp.245-249. Download
Ellison KA, Fill CP, Terwilliger JD, 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. Download
Terwilliger JD, Ding Y, Ott J (1992) On the relative importance of marker heterozygosity and intermarker distance in gene mapping. Genomics 13:951-956. Download
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 Download
Terwilliger JD, Ott J (1992) A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations. Hum Hered 42:337-346. Download
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 Psych 158:630-634. Download
Passos-Bueno MR, Byth B, Love D, Terwilliger JD, 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. Download
Passos-Bueno MR, Terwilliger JD, 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. Download
Kwan SP, Terwilliger JD, 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. Download
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. Download
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-Straüssler syndrome. Nature 338:342-345. Download
