Nelson B Freimer

Professor-in-Residence, Psychiatry and Biobehavioral Sciences, University of California Los Angeles

Professor-in-Residence, Human Genetics, University of California Los Angeles

310-794-9598

UC Profile
http://faculty.bri.ucla.edu/institution/personnel?personnel_id=36534
UCLA Center for Neurobehavioral Genetics

Nelson B. Freimer, MD is the Maggie G. Gilbert Endowed Chair and Distinguished Professor of Psychiatry and Human Genetics at UCLA. He is the Founding Director of the UCLA Center for Neurobehavioral Genetics and of the UCLA Neuroscience Genomics Core. Dr. Freimer’s research focuses on the use of novel strategies for behavioral phenotyping and large-scale genomics methods to identify the genetic basis of complex traits, including such neurobehavioral disorders as bipolar disorder, schizophrenia, and depression. He also leads the UCLA Depression Grand Challenge (DGC), a university-wide initiative that aims to transform our understanding and treatment of depression and thereby cut the burden that it represents to health and well-being in half by the year 2050. Within the DGC he is the PI of the UCLA-Apple Digital Mental Health Study.

Education and Training

Columbia UniversityFellow06/1990Psychiatry & Genetics
University of California, San FranciscoResident06/1987Psychiatry
University of California, San FranciscoPGY1 Intern06/1984
University of California, San FranciscoFellow06/1983Pediatrics
Ohio State UniversityMD06/1982Medicine
University of PennsylvaniaBA05/1978Anthropology

Publications

  1. Balliu B, Douglas C, Seok D, Shenhav L, Wu Y, Chatzopoulou D, Kaiser W, Chen V, Kim J, Deverasetty S, Arnaudova I, Gibbons R, Congdon E, Craske MG, Freimer N, Halperin E, Sankararaman S, Flint J. Personalized mood prediction from patterns of behavior collected with smartphones.. NPJ digital medicine, 2024.
  2. Song J, Ramírez MC, Okano JT, Service SK, de la Hoz J, Díaz-Zuluaga AM, Upegui CV, Gallago C, Arias A, Sánchez AV, Teshiba T, Sabatti C, Gur RC, Bearden CE, Escobar JI, Reus VI, Jaramillo CL, Freimer NB, Olde Loohuis LM, Blower S. Geospatial investigations in Colombia reveal variations in the distribution of mood and psychotic disorders.. Communications medicine, 2024.
  3. Service SK, De La Hoz J, Diaz-Zuluaga AM, Arias A, Pimplaskar A, Luu C, Mena L, Valencia J, Ramírez MC, Bearden CE, Sabbati C, Reus VI, López-Jaramillo C, Freimer NB, Loohuis LMO. Predicting diagnostic conversion from major depressive disorder to bipolar disorder: an EHR based study from Colombia.. medRxiv : the preprint server for health sciences, 2023.
  4. Wolitzky-Taylor K, LeBeau R, Arnaudova I, Barnes-Horowitz N, Gong-Guy E, Fears S, Congdon E, Freimer N, Craske M. A Novel and Integrated Digitally Supported System of Care for Depression and Anxiety: Findings From an Open Trial.. JMIR mental health, 2023.
  5. Zugman A, Alliende LM, Medel V, Bethlehem RAI, Seidlitz J, Ringlein G, Arango C, Arnatkeviciute A, Asmal L, Bellgrove M, Benegal V, Bernardo M, Billeke P, Bosch-Bayard J, Bressan R, Busatto GF, Castro MN, Chaim-Avancini T, Compte A, Costanzi M, Czepielewski L, Dazzan P, de la Fuente-Sandoval C, Di Forti M, Díaz-Caneja CM, María Díaz-Zuluaga A, Du Plessis S, Duran FLS, Fittipaldi S, Fornito A, Freimer NB, Gadelha A, Gama CS, Garani R, Garcia-Rizo C, Gonzalez Campo C, Gonzalez-Valderrama A, Guinjoan S, Holla B, Ibañez A, Ivanovic D, Jackowski A, Leon-Ortiz P, Lochner C, López-Jaramillo C, Luckhoff H, Massuda R, McGuire P, Miyata J, Mizrahi R, Murray R, Ozerdem A, Pan PM, Parellada M, Phahladira L, Ramirez-Mahaluf JP, Reckziegel R, Reis Marques T, Reyes-Madrigal F, Roos A, Rosa P, Salum G, Scheffler F, Schumann G, Serpa M, Stein DJ, Tepper A, Tiego J, Ueno T, Undurraga J, Undurraga EA, Valdes-Sosa P, Valli I, Villarreal M, Winton-Brown TT, Yalin N, Zamorano F, Zanetti MV, cVEDA, Winkler AM, Pine DS, Evans-Lacko S, Crossley NA. Country-level gender inequality is associated with structural differences in the brains of women and men.. Proceedings of the National Academy of Sciences of the United States of America, 2023.
  6. Gagnon CM, Svardal H, Jasinska AJ, Danzy Cramer J, Freimer NB, Paul Grobler J, Turner TR, Schmitt CA. Evidence of selection in the uncoupling protein 1 gene region suggests local adaptation to solar irradiance in savannah monkeys (Chlorocebus spp.).. Proceedings. Biological sciences, 2022.
  7. Yin X, Bose D, Kwon A, Hanks SC, Jackson AU, Stringham HM, Welch R, Oravilahti A, Fernandes Silva L, FinnGen, Locke AE, Fuchsberger C, Service SK, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Morrison J, Ripatti S, Palotie A, Freimer NB, Collins FS, Mohlke KL, Scott LJ, Fauman EB, Burant C, Boehnke M, Laakso M, Wen X. Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.. American journal of human genetics, 2022.
  8. Crossley NA, Alliende LM, Czepielewski LS, Aceituno D, Castañeda CP, Diaz C, Iruretagoyena B, Mena C, Mena C, Ramirez-Mahaluf JP, Tepper A, Vasquez J, Fonseca L, Machado V, Hernández CE, Vargas-Upegui C, Gomez-Cruz G, Kobayashi-Romero LF, Moncada-Habib T, Arango C, Barch DM, Carter C, Correll CU, Freimer NB, McGuire P, Evans-Lacko S, Undurraga E, Bressan R, Gama CS, Lopez-Jaramillo C, de la Fuente-Sandoval C, Gonzalez-Valderrama A, Undurraga J, Gadelha A. The enduring gap in educational attainment in schizophrenia according to the past 50 years of published research: a systematic review and meta-analysis.. The lancet. Psychiatry, 2022.
  9. Coller HA, Beggs S, Andrews S, Maloy J, Chiu A, Sankararaman S, Pellegrini M, Freimer N, Johnson T, Papp J, Eskin E, Hoffmann A. Bruins-in-Genomics: Evaluation of the impact of a UCLA undergraduate summer program in computational biology on participating students.. PloS one, 2022.
  10. Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MPM, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, Clair DS, Stahl EA, Vreeker A, Walters JTR, Wang W, Watts NA, Yolken R, Zandi PP, Neale BM. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.. Nature genetics, 2022.
  11. Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, Gopal S, Gratten J, Green MF, Greenwood TA, Guillin O, Gülöksüz S, Gur RE, Gur RC, Gutiérrez B, Hahn E, Hakonarson H, Haroutunian V, Hartmann AM, Harvey C, Hayward C, Henskens FA, Herms S, Hoffmann P, Howrigan DP, Ikeda M, Iyegbe C, Joa I, Julià A, Kähler AK, Kam-Thong T, Kamatani Y, Karachanak-Yankova S, Kebir O, Keller MC, Kelly BJ, Khrunin A, Kim SW, Klovins J, Kondratiev N, Konte B, Kraft J, Kubo M, Kucinskas V, Kucinskiene ZA, Kusumawardhani A, Kuzelova-Ptackova H, Landi S, Lazzeroni LC, Lee PH, Legge SE, Lehrer DS, Lencer R, Lerer B, Li M, Lieberman J, Light GA, Limborska S, Liu CM, Lönnqvist J, Loughland CM, Lubinski J, Luykx JJ, Lynham A, Macek M, Mackinnon A, Magnusson PKE, Maher BS, Maier W, Malaspina D, Mallet J, Marder SR, Marsal S, Martin AR, Martorell L, Mattheisen M, McCarley RW, McDonald C, McGrath JJ, Medeiros H, Meier S, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mitjans M, Molden E, Molina E, Molto MD, Mondelli V, Moreno C, Morley CP, Muntané G, Murphy KC, Myin-Germeys I, Nenadic I, Nestadt G, Nikitina-Zake L, Noto C, Nuechterlein KH, O'Brien NL, O'Neill FA, Oh SY, Olincy A, Ota VK, Pantelis C, Papadimitriou GN, Parellada M, Paunio T, Pellegrino R, Periyasamy S, Perkins DO, Pfuhlmann B, Pietiläinen O, Pimm J, Porteous D, Powell J, Quattrone D, Quested D, Radant AD, Rampino A, Rapaport MH, Rautanen A, Reichenberg A, Roe C, Roffman JL, Roth J, Rothermundt M, Rutten BPF, Saker-Delye S, Salomaa V, Sanjuan J, Santoro ML, Savitz A, Schall U, Scott RJ, Seidman LJ, Sharp SI, Shi J, Siever LJ, Sigurdsson E, Sim K, Skarabis N, Slominsky P, So HC, Sobell JL, Söderman E, Stain HJ, Steen NE, Steixner-Kumar AA, Stögmann E, Stone WS, Straub RE, Streit F, Strengman E, Stroup TS, Subramaniam M, Sugar CA, Suvisaari J, Svrakic DM, Swerdlow NR, Szatkiewicz JP, Ta TMT, Takahashi A, Terao C, Thibaut F, Toncheva D, Tooney PA, Torretta S, Tosato S, Tura GB, Turetsky BI, Üçok A, Vaaler A, van Amelsvoort T, van Winkel R, Veijola J, Waddington J, Walter H, Waterreus A, Webb BT, Weiser M, Williams NM, Witt SH, Wormley BK, Wu JQ, Xu Z, Yolken R, Zai CC, Zhou W, Zhu F, Zimprich F, Atbasoglu EC, Ayub M, Benner C, Bertolino A, Black DW, Bray NJ, Breen G, Buccola NG, Byerley WF, Chen WJ, Cloninger CR, Crespo-Facorro B, Donohoe G, Freedman R, Galletly C, Gandal MJ, Gennarelli M, Hougaard DM, Hwu HG, Jablensky AV, McCarroll SA, Moran JL, Mors O, Mortensen PB, Müller-Myhsok B, Neil AL, Nordentoft M, Pato MT, Petryshen TL, Pirinen M, Pulver AE, Schulze TG, Silverman JM, Smoller JW, Stahl EA, Tsuang DW, Vilella E, Wang SH, Xu S, Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium, Adolfsson R, Arango C, Baune BT, Belangero SI, Børglum AD, Braff D, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia.. Nature, 2022.
  12. Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ. Rare coding variants in ten genes confer substantial risk for schizophrenia.. Nature, 2022.
  13. Yin X, Chan LS, Bose D, Jackson AU, VandeHaar P, Locke AE, Fuchsberger C, Stringham HM, Welch R, Yu K, Fernandes Silva L, Service SK, Zhang D, Hector EC, Young E, Ganel L, Das I, Abel H, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Wagner GR, FinnGen, Kang J, Morrison J, Burant CF, Collins FS, Ripatti S, Palotie A, Freimer NB, Mohlke KL, Scott LJ, Wen X, Fauman EB, Laakso M, Boehnke M. Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.. Nature communications, 2022.
  14. Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, Papiol S, Adams MJ, Adolfsson R, Adorjan K, Agartz I, Aminoff SR, Anderson-Schmidt H, Andreassen OA, Ardau R, Aubry JM, Balaban C, Bass N, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Boks MP, Bromet EJ, Brosch K, Budde M, Byerley W, Cervantes P, Chillotti C, Cichon S, Clark SR, Comes AL, Corvin A, Coryell W, Craddock N, Craig DW, Croarkin PE, Cruceanu C, Czerski PM, Dalkner N, Dannlowski U, Degenhardt F, Del Zompo M, DePaulo JR, Djurovic S, Edenberg HJ, Eissa MA, Elvsåshagen T, Etain B, Fanous AH, Fellendorf F, Fiorentino A, Forstner AJ, Frye MA, Fullerton JM, Gade K, Garnham J, Gershon E, Gill M, Goes FS, Gordon-Smith K, Grof P, Guzman-Parra J, Hahn T, Hasler R, Heilbronner M, Heilbronner U, Jamain S, Jimenez E, Jones I, Jones L, Jonsson L, Kahn RS, Kelsoe JR, Kennedy JL, Kircher T, Kirov G, Kittel-Schneider S, Klöhn-Saghatolislam F, Knowles JA, Kranz TM, Lagerberg TV, Landen M, Lawson WB, Leboyer M, Li QS, Maj M, Malaspina D, Manchia M, Mayoral F, McElroy SL, McInnis MG, McIntosh AM, Medeiros H, Melle I, Milanova V, Mitchell PB, Monteleone P, Monteleone AM, Nöthen MM, Novak T, Nurnberger JI, O'Brien N, O'Connell KS, O'Donovan C, O'Donovan MC, Opel N, Ortiz A, Owen MJ, Pålsson E, Pato C, Pato MT, Pawlak J, Pfarr JK, Pisanu C, Potash JB, Rapaport MH, Reich-Erkelenz D, Reif A, Reininghaus E, Repple J, Richard-Lepouriel H, Rietschel M, Ringwald K, Roberts G, Rouleau G, Schaupp S, Scheftner WA, Schmitt S, Schofield PR, Schubert KO, Schulte EC, Schweizer B, Senner F, Severino G, Sharp S, Slaney C, Smeland OB, Sobell JL, Squassina A, Stopkova P, Strauss J, Tortorella A, Turecki G, Twarowska-Hauser J, Veldic M, Vieta E, Vincent JB, Xu W, Zai CC, Zandi PP, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Di Florio A, Smoller JW, Biernacka JM, McMahon FJ, Alda M, Müller-Myhsok B, Koutsouleris N, Falkai P, Freimer NB, Andlauer TFM, Schulze TG, Ophoff RA. Characterisation of age and polarity at onset in bipolar disorder.. The British journal of psychiatry : the journal of mental science, 2021.
  15. Fonseca L, Sena BF, Crossley N, Lopez-Jaramillo C, Koenen K, Freimer NB, Bressan RA, Belangero SI, Santoro ML, Gadelha A. Diversity matters: opportunities in the study of the genetics of psychotic disorders in low- and middle-income countries in Latin America.. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999), 2021.
  16. Jasinska AJ, Haghani A, Zoller JA, Li CZ, Arneson A, Ernst J, Kavanagh K, Jorgensen MJ, Mattison JA, Wojta K, Choi OW, DeYoung J, Li X, Rao AW, Coppola G, Freimer NB, Woods RP, Horvath S. Epigenetic clock and methylation studies in vervet monkeys.. GeroScience, 2021.
  17. Lanser I, Freimer NB, Craske MG. Reducing policing in mental health crises: A vision for university campuses.. Journal of American college health : J of ACH, 2021.
  18. Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K, Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J, Boehnke M, Laakso M, Locke A, Stitziel NO, Hall IM. Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.. Human genomics, 2021.
  19. Lam M, Chen CY, Ge T, Xia Y, Hill DW, Trampush JW, Yu J, Knowles E, Davies G, Stahl EA, Huckins L, Liewald DC, Djurovic S, Melle I, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Hartmann AM, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Koltai DC, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Smyrnis N, Bilder RM, Freimer NB, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Huang H, Liu C, Malhotra AK, Lencz T. Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2021.
  20. Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder BM, Sloofman LG, Steinberg S, Trubetskoy V, Winsvold BS, Won HH, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek JH, Bækvad-Hansen M, Bass N, Bauer M, Beins EC, Bergen SE, Birner A, Bøcker Pedersen C, Bøen E, Boks MP, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke TK, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski PM, Dale AM, Dalkner N, David FS, Degenhardt F, Djurovic S, Dobbyn AL, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier IN, Fiorentino A, Foroud TM, Forty L, Frank J, Frei O, Freimer NB, Frisén L, Gade K, Garnham J, Gelernter J, Giørtz Pedersen M, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans PA, Huckins L, Jamain S, Johnson JS, Kalman JL, Kamatani Y, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koromina M, Kranz TM, Kranzler HR, Kubo M, Kupka R, Kushner SA, Lavebratt C, Lawrence J, Leber M, Lee HJ, Lee PH, Levy SE, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre DJ, Magnusson SH, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McCarroll SA, McGregor NW, McGuffin P, McKay JD, Medeiros H, Medland SE, Millischer V, Montgomery GW, Moran JL, Morris DW, Mühleisen TW, O'Brien N, O'Donovan C, Olde Loohuis LM, Oruc L, Papiol S, Pardiñas AF, Perry A, Pfennig A, Porichi E, Potash JB, Quested D, Raj T, Rapaport MH, DePaulo JR, Regeer EJ, Rice JP, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer DM, Sánchez-Mora C, Schulte EC, Senner F, Sharp S, Shilling PD, Sigurdsson E, Sirignano L, Slaney C, Smeland OB, Smith DJ, Sobell JL, Søholm Hansen C, Soler Artigas M, Spijker AT, Stein DJ, Strauss JS, Swiatkowska B, Terao C, Thorgeirsson TE, Toma C, Tooney P, Tsermpini EE, Vawter MP, Vedder H, Walters JTR, Witt SH, Xi S, Xu W, Yang JMK, Young AH, Young H, Zandi PP, Zhou H, Zillich L, HUNT All-In Psychiatry, Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune BT, Bellivier F, Bengesser S, Berrettini WH, Blackwood DHR, Boehnke M, Børglum AD, Breen G, Carr VJ, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton JM, Gawlik M, Gershon ES, Goes FS, Green MJ, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong KS, Hougaard DM, Hultman CM, Hveem K, Iwata N, Jablensky AV, Jones I, Jones LA, Kahn RS, Kelsoe JR, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Lochner C, Loughland C, Martin NG, Mathews CA, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Michie P, Milani L, Mitchell PB, Morken G, Mors O, Mortensen PB, Mowry B, Müller-Myhsok B, Myers RM, Neale BM, Nievergelt CM, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Olsson T, Owen MJ, Paciga SA, Pantelis C, Pato C, Pato MT, Patrinos GP, Perlis RH, Posthuma D, Ramos-Quiroga JA, Reif A, Reininghaus EZ, Ribasés M, Rietschel M, Ripke S, Rouleau GA, Saito T, Schall U, Schalling M, Schofield PR, Schulze TG, Scott LJ, Scott RJ, Serretti A, Shannon Weickert C, Smoller JW, Stefansson H, Stefansson K, Stordal E, Streit F, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Waldman ID, Weickert TW, Werge T, Wray NR, Zwart JA, Biernacka JM, Nurnberger JI, Cichon S, Edenberg HJ, Stahl EA, McQuillin A, Di Florio A, Ophoff RA, Andreassen OA. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.. Nature genetics, 2021.
  21. Chen L, Abel HJ, Das I, Larson DE, Ganel L, Kanchi KL, Regier AA, Young EP, Kang CJ, Scott AJ, Chiang C, Wang X, Lu S, Christ R, Service SK, Chiang CWK, Havulinna AS, Kuusisto J, Boehnke M, Laakso M, Palotie A, Ripatti S, Freimer NB, Locke AE, Stitziel NO, Hall IM. Association of structural variation with cardiometabolic traits in Finns.. American journal of human genetics, 2021.
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  141. Munafò MR, Freimer NB, Ng W, Ophoff R, Veijola J, Miettunen J, Järvelin MR, Taanila A, Flint J. 5-HTTLPR genotype and anxiety-related personality traits: a meta-analysis and new data.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2009.
  142. Fears SC, Melega WP, Service SK, Lee C, Chen K, Tu Z, Jorgensen MJ, Fairbanks LA, Cantor RM, Freimer NB, Woods RP. Identifying heritable brain phenotypes in an extended pedigree of vervet monkeys.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009.
  143. Bilder RM, Sabb FW, Cannon TD, London ED, Jentsch JD, Parker DS, Poldrack RA, Evans C, Freimer NB. Phenomics: the systematic study of phenotypes on a genome-wide scale.. Neuroscience, 2009.
  144. Kerner B, Jasinska AJ, DeYoung J, Almonte M, Choi OW, Freimer NB. Polymorphisms in the GRIA1 gene region in psychotic bipolar disorder.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2009.
  145. Bilder RM, Sabb FW, Parker DS, Kalar D, Chu WW, Fox J, Freimer NB, Poldrack RA. Cognitive ontologies for neuropsychiatric phenomics research.. Cognitive neuropsychiatry, 2009.
  146. Bearden CE, Jasinska AJ, Freimer NB. Methodological issues in molecular genetic studies of mental disorders.. Annual review of clinical psychology, 2009.
  147. Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliot P, McCarthy MI, Daly MJ, Järvelin MR, Freimer NB, Peltonen L. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.. Nature genetics, 2008.
  148. Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L, ENGAGE Consortium. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.. Nature genetics, 2008.
  149. Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, Loos RJ, Manning AK, Jackson AU, Aulchenko Y, Potter SC, Erdos MR, Sanna S, Hottenga JJ, Wheeler E, Kaakinen M, Lyssenko V, Chen WM, Ahmadi K, Beckmann JS, Bergman RN, Bochud M, Bonnycastle LL, Buchanan TA, Cao A, Cervino A, Coin L, Collins FS, Crisponi L, de Geus EJ, Dehghan A, Deloukas P, Doney AS, Elliott P, Freimer N, Gateva V, Herder C, Hofman A, Hughes TE, Hunt S, Illig T, Inouye M, Isomaa B, Johnson T, Kong A, Krestyaninova M, Kuusisto J, Laakso M, Lim N, Lindblad U, Lindgren CM, McCann OT, Mohlke KL, Morris AD, Naitza S, Orrù M, Palmer CN, Pouta A, Randall J, Rathmann W, Saramies J, Scheet P, Scott LJ, Scuteri A, Sharp S, Sijbrands E, Smit JH, Song K, Steinthorsdottir V, Stringham HM, Tuomi T, Tuomilehto J, Uitterlinden AG, Voight BF, Waterworth D, Wichmann HE, Willemsen G, Witteman JC, Yuan X, Zhao JH, Zeggini E, Schlessinger D, Sandhu M, Boomsma DI, Uda M, Spector TD, Penninx BW, Altshuler D, Vollenweider P, Jarvelin MR, Lakatta E, Waeber G, Fox CS, Peltonen L, Groop LC, Mooser V, Cupples LA, Thorsteinsdottir U, Boehnke M, Barroso I, Van Duijn C, Dupuis J, Watanabe RM, Stefansson K, McCarthy MI, Wareham NJ, Meigs JB, Abecasis GR. Variants in MTNR1B influence fasting glucose levels.. Nature genetics, 2008.
  150. Jakkula E, Rehnström K, Varilo T, Pietiläinen OP, Paunio T, Pedersen NL, deFaire U, Järvelin MR, Saharinen J, Freimer N, Ripatti S, Purcell S, Collins A, Daly MJ, Palotie A, Peltonen L. The genome-wide patterns of variation expose significant substructure in a founder population.. American journal of human genetics, 2008.
  151. Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M. GENETICS. The Human Variome Project.. Science (New York, N.Y.), 2008.
  152. Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, GROUP, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. Large recurrent microdeletions associated with schizophrenia.. Nature, 2008.
  153. Wang S, Ray N, Rojas W, Parra MV, Bedoya G, Gallo C, Poletti G, Mazzotti G, Hill K, Hurtado AM, Camrena B, Nicolini H, Klitz W, Barrantes R, Molina JA, Freimer NB, Bortolini MC, Salzano FM, Petzl-Erler ML, Tsuneto LT, Dipierri JE, Alfaro EL, Bailliet G, Bianchi NO, Llop E, Rothhammer F, Excoffier L, Ruiz-Linares A. Geographic patterns of genome admixture in Latin American Mestizos.. PLoS genetics, 2008.
  154. Hunninghake GM, Lasky-Su J, Soto-Quirós ME, Avila L, Liang C, Lake SL, Hudson TJ, Spesny M, Fournier E, Sylvia JS, Freimer NB, Klanderman BJ, Raby BA, Celedón JC. Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa Ricans.. American journal of respiratory and critical care medicine, 2008.
  155. Jarvik L, LaRue A, Blacker D, Gatz M, Kawas C, McArdle JJ, Morris JC, Mortimer JA, Ringman JM, Ercoli L, Freimer N, Gokhman I, Manly JJ, Plassman BL, Rasgon N, Roberts JS, Sunderland T, Swan GE, Wolf PA, Zonderman AB. Children of persons with Alzheimer disease: what does the future hold?. Alzheimer disease and associated disorders, 2008.
  156. Freimer NB, Service SK, Ophoff RA, Jasinska AJ, McKee K, Villeneuve A, Belisle A, Bailey JN, Breidenthal SE, Jorgensen MJ, Mann JJ, Cantor RM, Dewar K, Fairbanks LA. A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related species.. Proceedings of the National Academy of Sciences of the United States of America, 2007.
  157. Athos EA, Levinson B, Kistler A, Zemansky J, Bostrom A, Freimer N, Gitschier J. Dichotomy and perceptual distortions in absolute pitch ability.. Proceedings of the National Academy of Sciences of the United States of America, 2007.
  158. Jasinska AJ, Service S, Levinson M, Slaten E, Lee O, Sobel E, Fairbanks LA, Bailey JN, Jorgensen MJ, Breidenthal SE, Dewar K, Hudson TJ, Palmour R, Freimer NB, Ophoff RA. A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus).. Mammalian genome : official journal of the International Mammalian Genome Society, 2007.
  159. NCI-NHGRI Working Group on Replication in Association Studies, Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS. Replicating genotype-phenotype associations.. Nature, 2007.
  160. Service S, International Collaborative Group on Isolated Populations, Sabatti C, Freimer N. Tag SNPs chosen from HapMap perform well in several population isolates.. Genetic epidemiology, 2007.
  161. Freimer NB, Sabatti C. Human genetics: variants in common diseases.. Nature, 2007.
  162. Kerner B, Brugman DL, Freimer NB. Evidence of linkage to psychosis on chromosome 5q33-34 in pedigrees ascertained for bipolar disorder.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2007.
  163. Raby BA, Soto-Quiros ME, Avila L, Lake SL, Murphy A, Liang C, Fournier E, Spesny M, Sylvia JS, Verner A, Hudson TJ, Klanderman BJ, Freimer NB, Silverman EK, Celedón JC. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica.. Human molecular genetics, 2006.
  164. Hersh CP, Soto-Quirós ME, Avila L, Lake SL, Liang C, Fournier E, Spesny M, Sylvia JS, Lazarus R, Hudson T, Verner A, Klanderman BJ, Freimer NB, Silverman EK, Celedón JC. Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa Rica.. Thorax, 2006.
  165. Mehan MR, Almonte M, Slaten E, Freimer NB, Rao PN, Ophoff RA. Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes.. Human genetics, 2006.
  166. Wang H, Lin CH, Service S, Chen Y, Freimer N, Sabatti C, International Collaborative Group on Isolated Populations. Linkage disequilibrium and haplotype homozygosity in population samples genotyped at a high marker density.. Human heredity, 2006.
  167. Keen-Kim D, Mathews CA, Reus VI, Lowe TL, Herrera LD, Budman CL, Gross-Tsur V, Pulver AE, Bruun RD, Erenberg G, Naarden A, Sabatti C, Freimer NB. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses.. Human molecular genetics, 2006.
  168. Celedón JC, Soto-Quiros ME, Avila L, Lake SL, Liang C, Fournier E, Spesny M, Hersh CP, Sylvia JS, Hudson TJ, Verner A, Klanderman BJ, Freimer NB, Silverman EK, Weiss ST. Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica.. Human genetics, 2006.
  169. Herzberg I, Jasinska A, García J, Jawaheer D, Service S, Kremeyer B, Duque C, Parra MV, Vega J, Ortiz D, Carvajal L, Polanco G, Restrepo GJ, López C, Palacio C, Levinson M, Aldana I, Mathews C, Davanzo P, Molina J, Fournier E, Bejarano J, Ramírez M, Ortiz CA, Araya X, Sabatti C, Reus V, Macaya G, Bedoya G, Ospina J, Freimer N, Ruiz-Linares A. Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34.. Human molecular genetics, 2006.
  170. Keen-Kim D, Freimer NB. Genetics and epidemiology of Tourette syndrome.. Journal of child neurology, 2006.
  171. Service S, Molina J, Deyoung J, Jawaheer D, Aldana I, Vu T, Araya C, Araya X, Bejarano J, Fournier E, Ramirez M, Mathews CA, Davanzo P, Macaya G, Sandkuijl L, Sabatti C, Reus V, Freimer N. Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2006.
  172. Mathews CA, Bimson B, Lowe TL, Herrera LD, Budman CL, Erenberg G, Naarden A, Bruun RD, Freimer NB, Reus VI. Association between maternal smoking and increased symptom severity in Tourette's syndrome.. The American journal of psychiatry, 2006.
  173. Bearden CE, Freimer NB. Endophenotypes for psychiatric disorders: ready for primetime?. Trends in genetics : TIG, 2006.
  174. Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC. Normal variants of Microcephalin and ASPM do not account for brain size variability.. Human molecular genetics, 2006.
  175. Mathews CA, Jang KL, Herrera LD, Lowe TL, Budman CL, Erenberg G, Naarden A, Bruun RD, Schork NJ, Freimer NB, Reus VI. Tic symptom profiles in subjects with Tourette Syndrome from two genetically isolated populations.. Biological psychiatry, 2006.
  176. Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.. Nature genetics, 2006.
  177. Glatt C, Almonte M, Taylor T, Edwards RH, Freimer N, Tanner C, Parkinson Study Group. Structural variants in the vesicular monoamine transporter do not contribute to sporadic Parkinson's disease.. Movement disorders : official journal of the Movement Disorder Society, 2006.
  178. Jarvik LF, La Rue A, Gokhman I, Harrison T, Holt L, Steh B, Harker J, Larson S, Yaralian P, Matsuyama S, Rasgon N, Geschwind D, Freimer N, Jimenez E, Schaeffer J. Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-up.. Journal of geriatric psychiatry and neurology, 2005.
  179. Freimer NB, Sabatti C. Guidelines for association studies in Human Molecular Genetics.. Human molecular genetics, 2005.
  180. Freimer N, Sabatti C. The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology.. Nature genetics, 2004.
  181. Burman J, Tran CH, Glatt C, Freimer NB, Edwards RH. The effect of rare human sequence variants on the function of vesicular monoamine transporter 2.. Pharmacogenetics, 2004.
  182. Mehan MR, Freimer NB, Ophoff RA. A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.. Human genomics, 2004.
  183. Mathews CA, Waller J, Glidden D, Lowe TL, Herrera LD, Budman CL, Erenberg G, Naarden A, Bruun RD, Freimer NB, Reus VI. Self injurious behaviour in Tourette syndrome: correlates with impulsivity and impulse control.. Journal of neurology, neurosurgery, and psychiatry, 2004.
  184. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis.. Hepatology (Baltimore, Md.), 2004.
  185. Bearden CE, Reus VI, Freimer NB. Why genetic investigation of psychiatric disorders is so difficult.. Current opinion in genetics & development, 2004.
  186. Mathews CA, Reus VI, Bejarano J, Escamilla MA, Fournier E, Herrera LD, Lowe TL, McInnes LA, Molina J, Ophoff RA, Raventos H, Sandkuijl LA, Service SK, Spesny M, León PE, Freimer NB. Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations.. Psychiatric genetics, 2004.
  187. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.. Human molecular genetics, 2004.
  188. Hong KS, McInnes LA, Service SK, Song T, Lucas J, Silva S, Fournier E, León P, Molina J, Reus VI, Sandkuijl LA, Freimer NB. Genetic mapping using haplotype and model-free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31-33.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2004.
  189. Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB. Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexity.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2004.
  190. Rahman P, Jones A, Curtis J, Bartlett S, Peddle L, Fernandez BA, Freimer NB. The Newfoundland population: a unique resource for genetic investigation of complex diseases.. Human molecular genetics, 2003.
  191. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lönnqvist J, Nöthen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, Macgregor S, Gurling H, Kalsi G, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.. American journal of human genetics, 2003.
  192. Sabatti C, Service S, Freimer N. False discovery rate in linkage and association genome screens for complex disorders.. Genetics, 2003.
  193. Freimer N, Sabatti C. The human phenome project.. Nature genetics, 2003.
  194. Service SK, Sandkuijl LA, Freimer NB. Cost-effective designs for linkage disequilibrium mapping of complex traits.. American journal of human genetics, 2003.
  195. Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, Ospina J, Bedoya G, Freimer N, Ruiz-Linares A. Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica.. Human genetics, 2003.
  196. Escamilla MA, Batki S, Reus VI, Spesny M, Molina J, Service S, Vinogradov S, Neylan T, Mathews C, Meza L, Gallegos A, Montero AP, Cruz ML, Neuhaus J, Roche E, Smith L, Leon P, Freimer NB. Comorbidity of bipolar disorder and substance abuse in Costa Rica: pedigree- and population-based studies.. Journal of affective disorders, 2002.
  197. Ophoff RA, Escamilla MA, Service SK, Spesny M, Meshi DB, Poon W, Molina J, Fournier E, Gallegos A, Mathews C, Neylan T, Batki SL, Roche E, Ramirez M, Silva S, De Mille MC, Dong P, Leon PE, Reus VI, Sandkuijl LA, Freimer NB. Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate.. American journal of human genetics, 2002.
  198. McInnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, Lewitzky S, Yang Q, Duong Q, Spesny M, Araya C, Araya X, Gallegos A, Meza L, Molina J, Ramirez R, Mendez R, Silva S, Fournier E, Batki SL, Mathews CA, Neylan T, Glatt CE, Escamilla MA, Luo D, Gajiwala P, Song T, Crook S, Nguyen JB, Roche E, Meyer JM, Leon P, Sandkuijl LA, Freimer NB, Chen H. Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population.. Proceedings of the National Academy of Sciences of the United States of America, 2001.
  199. Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.. American journal of human genetics, 2001.
  200. Mathews CA, Herrera Amighetti LD, Lowe TL, van de Wetering BJ, Freimer NB, Reus VI. Cultural influences on diagnosis and perception of Tourette syndrome in Costa Rica.. Journal of the American Academy of Child and Adolescent Psychiatry, 2001.
  201. Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB. Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes.. Nature genetics, 2001.
  202. Escamilla MA, McInnes LA, Service SK, Spesny M, Reus VI, Molina J, Gallegos A, Fournier E, Batki S, Neylan T, Matthews C, Vinogradov S, Roche E, Tyler DJ, Shimayoshi N, Mendez R, Ramirez R, Ramirez M, Araya C, Araya X, Leon PE, Sandkuijl LA, Freimer NB. Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18.. American journal of medical genetics, 2001.
  203. Service SK, Ophoff RA, Freimer NB. The genome-wide distribution of background linkage disequilibrium in a population isolate.. Human molecular genetics, 2001.
  204. Garner C, McInnes LA, Service SK, Spesny M, Fournier E, Leon P, Freimer NB. Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov chain Monte Carlo method.. American journal of human genetics, 2001.
  205. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.. American journal of human genetics, 2000.
  206. Baharloo S, Service SK, Risch N, Gitschier J, Freimer NB. Familial aggregation of absolute pitch.. American journal of human genetics, 2000.
  207. Escamilla MA, DeMille MC, Benavides E, Roche E, Almasy L, Pittman S, Hauser J, Lew DF, Freimer NB, Whittle MR. A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.. American journal of human genetics, 2000.
  208. Bull LN, Pabón-Peña CR, Freimer NB. Compound microsatellite repeats: practical and theoretical features.. Genome research, 1999.
  209. Escamilla MA, McInnes LA, Spesny M, Reus VI, Service SK, Shimayoshi N, Tyler DJ, Silva S, Molina J, Gallegos A, Meza L, Cruz ML, Batki S, Vinogradov S, Neylan T, Nguyen JB, Fournier E, Araya C, Barondes SH, Leon P, Sandkuijl LA, Freimer NB. Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18.. American journal of human genetics, 1999.
  210. Service SK, Lang DW, Freimer NB, Sandkuijl LA. Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations.. American journal of human genetics, 1999.
  211. Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.. Human genetics, 1999.
  212. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.. Nature genetics, 1998.
  213. McInnes LA, Reus VI, Freimer NB. Mapping genes for psychiatric disorders and behavioral traits.. Current opinion in genetics & development, 1998.
  214. Knowles JA, Fyer AJ, Vieland VJ, Weissman MM, Hodge SE, Heiman GA, Haghighi F, de Jesus GM, Rassnick H, Preud'homme-Rivelli X, Austin T, Cunjak J, Mick S, Fine LD, Woodley KA, Das K, Maier W, Adams PB, Freimer NB, Klein DF, Gilliam TC. Results of a genome-wide genetic screen for panic disorder.. American journal of medical genetics, 1998.
  215. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.. Nature genetics, 1998.
  216. Baharloo S, Johnston PA, Service SK, Gitschier J, Freimer NB. Absolute pitch: an approach for identification of genetic and nongenetic components.. American journal of human genetics, 1998.
  217. Knisely AS, Freimer NB. Insight into bile duct differentiation takes (notched) wings.. Hepatology (Baltimore, Md.), 1998.
  218. Freimer NB, Service SK, Slatkin M. Expanding on population studies.. Nature genetics, 1997.
  219. Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.. Human genetics, 1997.
  220. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.. Hepatology (Baltimore, Md.), 1997.
  221. Reus VI, Freimer NB. Understanding the genetic basis of mood disorders: where do we stand?. American journal of human genetics, 1997.
  222. McInnes LA, Escamilla MA, Service SK, Reus VI, Leon P, Silva S, Rojas E, Spesny M, Baharloo S, Blankenship K, Peterson A, Tyler D, Shimayoshi N, Tobey C, Batki S, Vinogradov S, Meza L, Gallegos A, Fournier E, Smith LB, Barondes SH, Sandkuijl LA, Freimer NB. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees.. Proceedings of the National Academy of Sciences of the United States of America, 1996.
  223. Smith LB, Sapers B, Reus VI, Freimer NB. Attitudes towards bipolar disorder and predictive genetic testing among patients and providers.. Journal of medical genetics, 1996.
  224. Freimer NB, Reus VI, Escamilla M, Spesny M, Smith L, Service S, Gallegos A, Meza L, Batki S, Vinogradov S, Leon P, Sandkuijl LA. An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees.. American journal of medical genetics, 1996.
  225. Escamilla MA, Spesny M, Reus VI, Gallegos A, Meza L, Molina J, Sandkuijl LA, Fournier E, Leon PE, Smith LB, Freimer NB. Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population.. American journal of medical genetics, 1996.
  226. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, Service SK, Smith LB, Silva S, Rojas E, Gallegos A, Meza L, Fournier E, Baharloo S, Blankenship K, Tyler DJ, Batki S, Vinogradov S, Weissenbach J, Barondes SH, Sandkuijl LA. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23.. Nature genetics, 1996.
  227. Freimer NB, Blower S, Slatkin M. Pathogens & strain diversity: is sex disruptive?. Nature medicine, 1996.
  228. Garza JC, Freimer NB. Homoplasy for size at microsatellite loci in humans and chimpanzees.. Genome research, 1996.
  229. Di Rienzo A, Peterson AC, Freimer NB. Amplification with arbitrary primers.. Methods in molecular biology (Clifton, N.J.), 1996.
  230. Freimer NB, Slatkin M. Microsatellites: evolution and mutational processes.. Ciba Foundation symposium, 1996.
  231. Garza JC, Slatkin M, Freimer NB. Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size.. Molecular biology and evolution, 1995.
  232. McInnes LA, Freimer NB. Mapping genes for psychiatric disorders and behavioral traits.. Current opinion in genetics & development, 1995.
  233. Carlton VE, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.. Human molecular genetics, 1995.
  234. Peterson AC, Di Rienzo A, Lehesjoki AE, de la Chapelle A, Slatkin M, Freimer NB. The distribution of linkage disequilibrium over anonymous genome regions.. Human molecular genetics, 1995.
  235. Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.. Nature genetics, 1994.
  236. Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB. Mutational processes of simple-sequence repeat loci in human populations.. Proceedings of the National Academy of Sciences of the United States of America, 1994.
  237. Freimer NB, Sandkuijl LA, Blower SM. Incorrect specification of marker allele frequencies: effects on linkage analysis.. American journal of human genetics, 1993.
  238. Valdes AM, Slatkin M, Freimer NB. Allele frequencies at microsatellite loci: the stepwise mutation model revisited.. Genetics, 1993.
  239. Di Rienzo A, Peterson A, Das S, Freimer NB. Genome mapping by arbitrary amplification of yeast artificial chromosomes.. Mammalian genome : official journal of the International Mammalian Genome Society, 1993.
  240. Gilliam TC, Freimer NB, Kaufmann CA, Powchik PP, Bassett AS, Bengtsson U, Wasmuth JJ. Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.. Genomics, 1989.