Nelson B Freimer

Title(s)Professor-in-Residence, Psychiatry and Biobehavioral Sciences
SchoolMedicine
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    Other Positions
    Title(s)Professor-in-Residence, Human Genetics


    Collapse Research 
    Collapse Research Activities and Funding
    4/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African Ancestries
    NIH U01MH125042Sep 14, 2020 - Jul 31, 2025
    Role: Principal Investigator
    A Latin American biobank for large-scale genetics research on severe mental illness
    NIH R01MH123157May 1, 2020 - Feb 28, 2025
    Role: Principal Investigator
    Integrating Common and Rare Variation to Discover Genes Associated with Tourette Syndrome
    NIH R01NS102371Mar 15, 2018 - Feb 28, 2023
    Role: Co-Principal Investigator
    Genetics of Severe Mental Illness
    NIH R01MH113078May 15, 2017 - Jan 31, 2022
    Role: Principal Investigator
    The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up
    NIH R01MH110437Aug 1, 2016 - May 31, 2020
    Role: Co-Principal Investigator
    Undergraduate Research Experience in Neuropsychiatric Genomics
    NIH R25MH109172Feb 1, 2016 - Nov 30, 2021
    Role: Principal Investigator
    Genetic Dissection in Pedigrees of Substance Use and Mood Disorders Comorbidity
    NIH R56DA035938Jul 15, 2015 - Jun 30, 2017
    Role: Principal Investigator
    1/2 Genomic Strategies to Identify High-impact Psychiatric Risk Variants
    NIH U01MH105578Sep 23, 2014 - Jul 31, 2020
    Role: Principal Investigator
    Genomic and Metabolomic Profiling of Finnish Familial Dyslipidemia Families
    NIH R01HL113315Jun 15, 2012 - Mar 31, 2019
    Role: Principal Investigator
    Genome Sequencing in Extended Bipolar Pedigrees
    NIH R01MH095454Jun 1, 2012 - May 31, 2017
    Role: Principal Investigator
    Integrative Center for Neurogenetics and Neurogenomics - Overall
    NIH P30NS062691Aug 1, 2009 - Jul 31, 2020
    Role: Principal Investigator
    Whole Genome Assoc. Analysis Strategies for Multi. Phenotypes
    NIH RL1MH083268Sep 28, 2007 - Jun 30, 2013
    Role: Principal Investigator
    Bipolar Endophenotypes in Population Isolates
    NIH R01MH075007Jun 20, 2007 - Feb 28, 2013
    Role: Principal Investigator
    Training Grant in Neurobehavioral Genetics
    NIH T32NS048004Jul 15, 2004 - Jun 30, 2026
    Role: Co-Principal Investigator
    Integrated Genetic and Genomic Resources for a Model System
    NIH R01OD010980Jul 1, 2001 - Apr 30, 2014
    Role: Principal Investigator
    Integrated Genetic and Genomic Resources for a Model System
    NIH R01RR016300Jul 1, 2001 - Apr 30, 2013
    Role: Principal Investigator
    Population Genetic Mapping of Tourette Syndrome
    NIH R01NS037484Apr 30, 1998 - May 31, 2011
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. Hum Genomics. 2021 Jun 07; 15(1):34. 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. PMID: 34099068.
      View in: PubMed   Mentions:    Fields:    
    2. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nat Genet. 2021 06; 53(6):817-829. 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. PMID: 34002096.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    3. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet. 2021 04 01; 108(4):583-596. 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. PMID: 33798444.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    4. Shifts in microbial diversity, composition, and functionality in the gut and genital microbiome during a natural SIV infection in vervet monkeys. Microbiome. 2020 11 06; 8(1):154. Jasinska AJ, Dong TS, Lagishetty V, Katzka W, Jacobs JP, Schmitt CA, Cramer JD, Ma D, Coetzer WG, Grobler JP, Turner TR, Freimer N, Pandrea I, Apetrei C. PMID: 33158452.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    5. Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder. Mol Psychiatry. 2020 Jun 30. Fears SC, Service SK, Kremeyer B, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Franco J, Lopez MC, Montoya G, Montoya P, Aldana I, Teshiba TM, Al-Sharif NB, Jalbrzikowski M, Tishler TA, Escobar J, Ruiz-Linares A, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Cantor RM, Sabatti C, Freimer NB, Bearden CE. PMID: 32606377.
      View in: PubMed   Mentions: 1     Fields:    
    6. ACE2 and TMPRSS2 variation in savanna monkeys (Chlorocebus spp.): Potential risk for zoonotic/anthroponotic transmission of SARS-CoV-2 and a potential model for functional studies. PLoS One. 2020; 15(6):e0235106. Schmitt CA, Bergey CM, Jasinska AJ, Ramensky V, Burt F, Svardal H, Jorgensen MJ, Freimer NB, Grobler JP, Turner TR. PMID: 32574196.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCellsPHPublic Health
    7. Distinct and shared contributions of diagnosis and symptom domains to cognitive performance in severe mental illness in the Paisa population: a case-control study. Lancet Psychiatry. 2020 05; 7(5):411-419. Service SK, Vargas Upegui C, Castaño Ramírez M, Port AM, Moore TM, Munoz Umanes M, Agudelo Arango LG, Díaz-Zuluaga AM, Melo Espejo J, López MC, Palacio JD, Ruiz Sánchez S, Valencia J, Teshiba TM, Espinoza A, Olde Loohuis L, De la Hoz Gomez J, Brodey BB, Sabatti C, Escobar JI, Reus VI, Lopez Jaramillo C, Gur RC, Bearden CE, Freimer NB. PMID: 32353276.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Immunosuppressive effect and global dysregulation of blood transcriptome in response to psychosocial stress in vervet monkeys (Chlorocebus sabaeus). Sci Rep. 2020 02 26; 10(1):3459. Jasinska AJ, Pandrea I, He T, Benjamin C, Newton M, Lee JC, Freimer NB, Coppola G, Jentsch JD. PMID: 32103041.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    9. Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. Transl Psychiatry. 2020 02 24; 10(1):74. Sul JH, Service SK, Huang AY, Ramensky V, Hwang SG, Teshiba TM, Park Y, Ori APS, Zhang Z, Mullins N, Olde Loohuis LM, Fears SC, Araya C, Araya X, Spesny M, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Escobar JI, Ospina-Duque J, Kremeyer B, Bedoya G, Ruiz-Linares A, Cantor RM, Molina J, Coppola G, Ophoff RA, Macaya G, Lopez-Jaramillo C, Reus V, Bearden CE, Sabatti C, Freimer NB. PMID: 32094344.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    10. Extensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium. Educ Psychol Meas. 2020 Oct; 80(5):870-909. Mansolf M, Vreeker A, Reise SP, Freimer NB, Glahn DC, Gur RE, Moore TM, Pato CN, Pato MT, Palotie A, Holm M, Suvisaari J, Partonen T, Kieseppä T, Paunio T, Boks M, Kahn R, Ophoff RA, Bearden CE, Loohuis LO, Teshiba T, deGeorge D, Bilder RM, GROUP Investigators , WGSPD Consortium . PMID: 32855563.
      View in: PubMed   Mentions:
    11. ForestQC: Quality control on genetic variants from next-generation sequencing data using random forest. PLoS Comput Biol. 2019 12; 15(12):e1007556. Li J, Jew B, Zhan L, Hwang S, Coppola G, Freimer NB, Sul JH. PMID: 31851693.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    12. Genetic analysis of activity, brain and behavioral associations in extended families with heavy genetic loading for bipolar disorder. Psychol Med. 2021 02; 51(3):494-502. Vreeker A, Fears SC, Service SK, Pagani L, Takahashi JS, Araya C, Araya X, Bejarano J, Lopez MC, Montoya G, Montoya CP, Teshiba TM, Escobar J, Cantor RM, López-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Ophoff RA, Freimer NB, Bearden CE. PMID: 31813409.
      View in: PubMed   Mentions:    Fields:    
    13. Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power. Nature. 2019 Nov; 575(7783):E4. Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H, FinnGen Project , Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. PMID: 31686056.
      View in: PubMed   Mentions:    Fields:    
    14. Genetic architecture of human plasma lipidome and its link to cardiovascular disease. Nat Commun. 2019 09 24; 10(1):4329. Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ, Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, Stitziel NO, Laivuori H, Havulinna AS, Service SK, Salomaa V, Pirinen M, FinnGen Project , Jauhiainen M, Daly MJ, Freimer NB, Palotie A, Taskinen MR, Simons K, Ripatti S. PMID: 31551469.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    15. Exome sequencing of Finnish isolates enhances rare-variant association power. Nature. 2019 08; 572(7769):323-328. Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H, FinnGen Project , Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. PMID: 31367044.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    16. Roadmap for a precision-medicine initiative in the Nordic region. Nat Genet. 2019 06; 51(6):924-930. Njølstad PR, Andreassen OA, Brunak S, Børglum AD, Dillner J, Esko T, Franks PW, Freimer N, Groop L, Heimer H, Hougaard DM, Hovig E, Hveem K, Jalanko A, Kaprio J, Knudsen GP, Melbye M, Metspalu A, Mortensen PB, Palmgren J, Palotie A, Reed W, Stefánsson H, Stitziel NO, Sullivan PF, Thorsteinsdóttir U, Vaudel M, Vuorio E, Werge T, Stoltenberg C, Stefánsson K. PMID: 30988515.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    17. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019 05; 51(5):793-803. Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A, Antilla V, Awasthi S, Badner JA, Bækvad-Hansen M, Barchas JD, Bass N, Bauer M, Belliveau R, Bergen SE, Pedersen CB, Bøen E, Boks MP, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney AW, Chen D, Churchhouse C, Clarke TK, Coryell W, Craig DW, Cruceanu C, Curtis D, Czerski PM, Dale AM, de Jong S, Degenhardt F, Del-Favero J, DePaulo JR, Djurovic S, Dobbyn AL, Dumont A, Elvsåshagen T, Escott-Price V, Fan CC, Fischer SB, Flickinger M, Foroud TM, Forty L, Frank J, Fraser C, Freimer NB, Frisén L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen MG, Goldstein J, Gordon SD, Gordon-Smith K, Green EK, Green MJ, Greenwood TA, Grove J, Guan W, Guzman-Parra J, Hamshere ML, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson JS, Juréus A, Kandaswamy R, Karlsson R, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koller AC, Kupka R, Lavebratt C, Lawrence J, Lawson WB, Leber M, Lee PH, Levy SE, Li JZ, Liu C, Lucae S, Maaser A, MacIntyre DJ, Mahon PB, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis MG, McKay JD, Medeiros H, Medland SE, Meng F, Milani L, Montgomery GW, Morris DW, Mühleisen TW, Mullins N, Nguyen H, Nievergelt CM, Adolfsson AN, Nwulia EA, O'Donovan C, Loohuis LMO, Ori APS, Oruc L, Ösby U, Perlis RH, Perry A, Pfennig A, Potash JB, Purcell SM, Regeer EJ, Reif A, Reinbold CS, Rice JP, Rivas F, Rivera M, Roussos P, Ruderfer DM, Ryu E, Sánchez-Mora C, Schatzberg AF, Scheftner WA, Schork NJ, Shannon Weickert C, Shehktman T, Shilling PD, Sigurdsson E, Slaney C, Smeland OB, Sobell JL, Søholm Hansen C, Spijker AT, St Clair D, Steffens M, Strauss JS, Streit F, Strohmaier J, Szelinger S, Thompson RC, Thorgeirsson TE, Treutlein J, Vedder H, Wang W, Watson SJ, Weickert TW, Witt SH, Xi S, Xu W, Young AH, Zandi P, Zhang P, Zöllner S, eQTLGen Consortium , BIOS Consortium , Adolfsson R, Agartz I, Alda M, Backlund L, Baune BT, Bellivier F, Berrettini WH, Biernacka JM, Blackwood DHR, Boehnke M, Børglum AD, Corvin A, Craddock N, Daly MJ, Dannlowski U, Esko T, Etain B, Frye M, Fullerton JM, Gershon ES, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard DM, Hultman CM, Jones I, Jones LA, Kahn RS, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Martin NG, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Metspalu A, Mitchell PB, Morken G, Mors O, Mortensen PB, Müller-Myhsok B, Myers RM, Neale BM, Nimgaonkar V, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Owen MJ, Paciga SA, Pato C, Pato MT, Posthuma D, Ramos-Quiroga JA, Ribasés M, Rietschel M, Rouleau GA, Schalling M, Schofield PR, Schulze TG, Serretti A, Smoller JW, Stefansson H, Stefansson K, Stordal E, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Werge T, Nurnberger JI, Wray NR, Di Florio A, Edenberg HJ, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium . PMID: 31043756.
      View in: PubMed   Mentions: 263     Fields:    Translation:Humans
    18. Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. Am J Psychiatry. 2019 03 01; 176(3):217-227. Yu D, Sul JH, Tsetsos F, Nawaz MS, Huang AY, Zelaya I, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau G, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Luðvigsson P, Sæmundsen E, Thorarensen Ó, Atzmon G, Barzilai N, Wagner M, Moessner R, Ophoff R, Pato CN, Pato MT, Knowles JA, Roffman JL, Smoller JW, Buckner RL, Willsey AJ, Tischfield JA, Heiman GA, Stefansson H, Stefansson K, Posthuma D, Cox NJ, Pauls DL, Freimer NB, Neale BM, Davis LK, Paschou P, Coppola G, Mathews CA, Scharf JM, Tourette Association of America International Consortium for Genetics, the Gilles de la Tourette GWA . PMID: 30818990.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    19. Integrating behavioural health tracking in human genetics research. Nat Rev Genet. 2019 03; 20(3):129-130. Freimer NB, Mohr DC. PMID: 30523274.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    20. Publisher Correction: Ancient hybridization and strong adaptation to viruses across African vervet monkey populations. Nat Genet. 2018 11; 50(11):1617. Svardal H, Jasinska AJ, Apetrei C, Coppola G, Huang Y, Schmitt CA, Jacquelin B, Ramensky V, Müller-Trutwin M, Antonio M, Weinstock G, Grobler JP, Dewar K, Wilson RK, Turner TR, Warren WC, Freimer NB, Nordborg M. PMID: 30327573.
      View in: PubMed   Mentions:    Fields:    
    21. Understanding the Hidden Complexity of Latin American Population Isolates. Am J Hum Genet. 2018 11 01; 103(5):707-726. Mooney JA, Huber CD, Service S, Sul JH, Marsden CD, Zhang Z, Sabatti C, Ruiz-Linares A, Bedoya G, Costa Rica/Colombia Consortium for Genetic Investigation of Bipolar Endophenotypes , Freimer N, Lohmueller KE. PMID: 30401458.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    22. Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2018 Jul; 21(7):1017. Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB, Whole Genome Sequencing for Psychiatric Disorders (WGSPD) . PMID: 29549319.
      View in: PubMed   Mentions: 1     Fields:    
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    33. Errors in Identification of 17 of 527 Brain Images in Genetic Study of Phenotypes Associated With Bipolar Disorder. JAMA Psychiatry. 2016 07 01; 73(7):758-9. Fears SC, Freimer NB, Bearden CE. PMID: 27191702.
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    35. Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder. PLoS Genet. 2016 05; 12(5):e1006046. Peterson CB, Service SK, Jasinska AJ, Gao F, Zelaya I, Teshiba TM, Bearden CE, Cantor RM, Reus VI, Macaya G, López-Jaramillo C, Bogomolov M, Benjamini Y, Eskin E, Coppola G, Freimer NB, Sabatti C. PMID: 27176483.
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    40. The genome of the vervet (Chlorocebus aethiops sabaeus). Genome Res. 2015 Dec; 25(12):1921-33. Warren WC, Jasinska AJ, García-Pérez R, Svardal H, Tomlinson C, Rocchi M, Archidiacono N, Capozzi O, Minx P, Montague MJ, Kyung K, Hillier LW, Kremitzki M, Graves T, Chiang C, Hughes J, Tran N, Huang Y, Ramensky V, Choi OW, Jung YJ, Schmitt CA, Juretic N, Wasserscheid J, Turner TR, Wiseman RW, Tuscher JJ, Karl JA, Schmitz JE, Zahn R, O'Connor DH, Redmond E, Nisbett A, Jacquelin B, Müller-Trutwin MC, Brenchley JM, Dione M, Antonio M, Schroth GP, Kaplan JR, Jorgensen MJ, Thomas GW, Hahn MW, Raney BJ, Aken B, Nag R, Schmitz J, Churakov G, Noll A, Stanyon R, Webb D, Thibaud-Nissen F, Nordborg M, Marques-Bonet T, Dewar K, Weinstock GM, Wilson RK, Freimer NB. PMID: 26377836.
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    41. Sequencing strategies and characterization of 721 vervet monkey genomes for future genetic analyses of medically relevant traits. BMC Biol. 2015 Jun 20; 13:41. Huang YS, Ramensky V, Service SK, Jasinska AJ, Jung Y, Choi OW, Cantor RM, Juretic N, Wasserscheid J, Kaplan JR, Jorgensen MJ, Dyer TD, Dewar K, Blangero J, Wilson RK, Warren W, Weinstock GM, Freimer NB. PMID: 26092298.
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    42. Local Virus Extinctions following a Host Population Bottleneck. J Virol. 2015 Aug; 89(16):8152-61. Kapusinszky B, Mulvaney U, Jasinska AJ, Deng X, Freimer N, Delwart E. PMID: 26018153.
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    45. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet. 2014 Jul; 10(7):e1004494. Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A, Sequencing Initiative Suomi (SISu) Project . PMID: 25078778.
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    85. Large recurrent microdeletions associated with schizophrenia. Nature. 2008 Sep 11; 455(7210):232-6. 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. PMID: 18668039.
      View in: PubMed   Mentions: 716     Fields:    Translation:HumansCells
    86. Children of persons with Alzheimer disease: what does the future hold? Alzheimer Dis Assoc Disord. 2008 Jan-Mar; 22(1):6-20. 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. PMID: 18317242.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    87. A quantitative trait locus for variation in dopamine metabolism mapped in a primate model using reference sequences from related species. Proc Natl Acad Sci U S A. 2007 Oct 02; 104(40):15811-6. 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. PMID: 17884980.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    88. A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus). Mamm Genome. 2007 May; 18(5):347-60. 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. PMID: 17629771.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    89. Tag SNPs chosen from HapMap perform well in several population isolates. Genet Epidemiol. 2007 Apr; 31(3):189-94. Service S, International Collaborative Group on Isolated Populations , Sabatti C, Freimer N. PMID: 17323370.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    90. Human genetics: variants in common diseases. Nature. 2007 Feb 22; 445(7130):828-30. Freimer NB, Sabatti C. PMID: 17293879.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    91. Evidence of linkage to psychosis on chromosome 5q33-34 in pedigrees ascertained for bipolar disorder. . 2007 Jan 05; 144B(1):74-8. Kerner B, Brugman DL, Freimer NB. PMID: 16958032.
      View in: PubMed   Mentions:
    92. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. Hum Mol Genet. 2007 Feb 01; 16(3):243-53. 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. PMID: 17142250.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    93. Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes. Hum Genet. 2007 Mar; 121(1):93-100. Mehan MR, Almonte M, Slaten E, Freimer NB, Rao PN, Ophoff RA. PMID: 17091282.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    94. Linkage disequilibrium and haplotype homozygosity in population samples genotyped at a high marker density. Hum Hered. 2006; 62(4):175-89. Wang H, Lin CH, Service S, Chen Y, Freimer N, Sabatti C, International Collaborative Group on Isolated Populations . PMID: 17077642.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    95. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet. 2006 Nov 15; 15(22):3324-8. 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. PMID: 17035247.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    96. Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34. Hum Mol Genet. 2006 Nov 01; 15(21):3146-53. 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. PMID: 16984960.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    97. Genetics and epidemiology of Tourette syndrome. J Child Neurol. 2006 Aug; 21(8):665-71. Keen-Kim D, Freimer NB. PMID: 16970867.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    98. Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder. . 2006 Jun 05; 141B(4):367-73. 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. PMID: 16652356.
      View in: PubMed   Mentions:
    99. Endophenotypes for psychiatric disorders: ready for primetime? Trends Genet. 2006 Jun; 22(6):306-13. Bearden CE, Freimer NB. PMID: 16697071.
      View in: PubMed   Mentions: 71     Fields:    Translation:Humans
    100. Normal variants of Microcephalin and ASPM do not account for brain size variability. Hum Mol Genet. 2006 Jun 15; 15(12):2025-9. Woods RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC. PMID: 16687438.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    101. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet. 2006 May; 38(5):556-60. 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. PMID: 16582909.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansCells
    102. Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-up. J Geriatr Psychiatry Neurol. 2005 Dec; 18(4):187-91. 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. PMID: 16306237.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    103. Guidelines for association studies in Human Molecular Genetics. Hum Mol Genet. 2005 Sep 01; 14(17):2481-3. Freimer NB, Sabatti C. PMID: 16037069.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    104. The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet. 2004 Oct; 36(10):1045-51. Freimer N, Sabatti C. PMID: 15454942.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    105. A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. Hum Genomics. 2004 Aug; 1(5):335-44. Mehan MR, Freimer NB, Ophoff RA. PMID: 15588494.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    106. Why genetic investigation of psychiatric disorders is so difficult. Curr Opin Genet Dev. 2004 Jun; 14(3):280-6. Bearden CE, Reus VI, Freimer NB. PMID: 15172671.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimals
    107. Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations. Psychiatr Genet. 2004 Mar; 14(1):13-23. 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. PMID: 15091311.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    108. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004 Apr 15; 13(8):881-92. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. PMID: 14976163.
      View in: PubMed   Mentions: 29     Fields:    Translation:Animals
    109. Genetic mapping using haplotype and model-free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31-33. . 2004 Feb 15; 125B(1):83-6. Hong KS, McInnes LA, Service SK, Song T, Lucas J, Silva S, Fournier E, León P, Molina J, Reus VI, Sandkuijl LA, Freimer NB. PMID: 14755450.
      View in: PubMed   Mentions:
    110. Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexity. . 2004 Jan 01; 124B(1):92-100. Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB. PMID: 14681923.
      View in: PubMed   Mentions:
    111. The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet. 2003 Oct 15; 12 Spec No 2:R167-72. Rahman P, Jones A, Curtis J, Bartlett S, Peddle L, Fernandez BA, Freimer NB. PMID: 12915452.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    112. False discovery rate in linkage and association genome screens for complex disorders. Genetics. 2003 Jun; 164(2):829-33. Sabatti C, Service S, Freimer N. PMID: 12807801.
      View in: PubMed   Mentions: 54     Fields:    Translation:Humans
    113. The human phenome project. Nat Genet. 2003 May; 34(1):15-21. Freimer N, Sabatti C. PMID: 12721547.
      View in: PubMed   Mentions: 117     Fields:    Translation:HumansAnimals
    114. Cost-effective designs for linkage disequilibrium mapping of complex traits. Am J Hum Genet. 2003 May; 72(5):1213-20. Service SK, Sandkuijl LA, Freimer NB. PMID: 12696019.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    115. Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Hum Genet. 2003 May; 112(5-6):534-41. Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, Ospina J, Bedoya G, Freimer N, Ruiz-Linares A. PMID: 12601469.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    116. Comorbidity of bipolar disorder and substance abuse in Costa Rica: pedigree- and population-based studies. J Affect Disord. 2002 Sep; 71(1-3):71-83. 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. PMID: 12167503.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    117. Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. Am J Hum Genet. 2002 Sep; 71(3):565-74. 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. PMID: 12119601.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
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