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Jonathan K. Pritchard

InstitutionUniversity of Chicago
DepartmentHuman Genetics
AddressChicago IL 60637
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    Collapse Research 
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    R01HG011432     (PRITCHARD, JONATHAN K)Sep 14, 2020 - Jun 30, 2024
    New methods for constructing and evaluating polygenic scores
    Role: Principal Investigator

    U01HG009431     (PRITCHARD, JONATHAN K)Feb 1, 2017 - Jan 31, 2022
    Decoding the regulatory architecture of the human genome across cell types, individuals and disease
    Role: Principal Investigator

    R01HG008140     (PRITCHARD, JONATHAN K)Jun 23, 2016 - Mar 31, 2025
    Integration of functional data and GWAS to elucidate genetic basis of diseases
    Role: Principal Investigator

    R01ES025009     (PRITCHARD, JONATHAN K)Sep 5, 2014 - Aug 31, 2017
    Computational methods for modeling lineage-specific gene regulation
    Role: Principal Investigator

    U01HG007036     (PRITCHARD, JONATHAN K)Sep 17, 2012 - Jun 30, 2016
    Genetic and epigenetic controls of gene regulation
    Role: Principal Investigator

    R01MH090951     (PRITCHARD, JONATHAN K)Sep 17, 2010 - Jul 31, 2013
    Statistical analysis of gene expression quantitative trait loci (eQTL)
    Role: Principal Investigator

    R01MH084703     (GILAD, YOAV)Sep 25, 2008 - Aug 31, 2016
    Analysis and interpretation of noncoding regulatory variation
    Role: Co-Principal Investigator

    R01HG002772     (PRITCHARD, JONATHAN K)Apr 10, 2003 - Mar 31, 2009
    Linkage Disequilibrium Methods For Complex Trait Mapping
    Role: Principal Investigator

    F32GM019634     (PRITCHARD, JONATHAN K)Feb 2, 1999
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    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. Spence JP, Zeng T, Mostafavi H, Pritchard JK. Scaling the discrete-time Wright-Fisher model to biobank-scale datasets. Genetics. 2023 Nov 01; 225(3). PMID: 37724741; PMCID: PMC10627256.
      Citations:    Fields:    
    2. Weinstock JS, Arce MM, Freimer JW, Ota M, Marson A, Battle A, Pritchard JK. Gene regulatory network inference from CRISPR perturbations in primary CD4+ T cells elucidates the genomic basis of immune disease. bioRxiv. 2023 Oct 24. PMID: 37745614; PMCID: PMC10516010.
    3. Mostafavi H, Spence JP, Naqvi S, Pritchard JK. Systematic differences in discovery of genetic effects on gene expression and complex traits. Nat Genet. 2023 Nov; 55(11):1866-1875. PMID: 37857933.
      Citations: 1     Fields:    
    4. Li T, Ferraro N, Strober BJ, Aguet F, Kasela S, Arvanitis M, Ni B, Wiel L, Hershberg E, Ardlie K, Arking DE, Beer RL, Brody J, Blackwell TW, Clish C, Gabriel S, Gerszten R, Guo X, Gupta N, Johnson WC, Lappalainen T, Lin HJ, Liu Y, Nickerson DA, Papanicolaou G, Pritchard JK, Qasba P, Shojaie A, Smith J, Sotoodehnia N, Taylor KD, Tracy RP, Van Den Berg D, Wheeler MT, Rich SS, Rotter JI, Battle A, Montgomery SB. The functional impact of rare variation across the regulatory cascade. Cell Genom. 2023 Oct 11; 3(10):100401. PMID: 37868038; PMCID: PMC10589633.
    5. Mamedov MR, Vedova S, Freimer JW, Sahu AD, Ramesh A, Arce MM, Meringa AD, Ota M, Chen PA, Hanspers K, Nguyen VQ, Takeshima KA, Rios AC, Pritchard JK, Kuball J, Sebestyen Z, Adams EJ, Marson A. CRISPR screens decode cancer cell pathways that trigger ?d T cell detection. Nature. 2023 Sep; 621(7977):188-195. PMID: 37648854.
      Citations: 1     Fields:    Translation:HumansCells
    6. Moots HM, Antonio M, Sawyer S, Spence JP, Oberreiter V, Weiß CL, Lucci M, Cherifi YMS, La Pastina F, Genchi F, Praxmeier E, Zagorc B, Cheronet O, Özdogan KT, Demetz L, Amrani S, Candilio F, De Angelis D, Gasperetti G, Fernandes D, Gao Z, Fantar M, Coppa A, Pritchard JK, Pinhasi R. A genetic history of continuity and mobility in the Iron Age central Mediterranean. Nat Ecol Evol. 2023 09; 7(9):1515-1524. PMID: 37592021.
      Citations:    Fields:    Translation:Humans
    7. Bajpai VK, Swigut T, Mohammed J, Naqvi S, Arreola M, Tycko J, Kim TC, Pritchard JK, Bassik MC, Wysocka J. A genome-wide genetic screen uncovers determinants of human pigmentation. Science. 2023 08 11; 381(6658):eade6289. PMID: 37561850.
      Citations:    Fields:    Translation:HumansAnimalsCells
    8. Mooney JA, Agranat-Tamir L, Pritchard JK, Rosenberg NA. On the number of genealogical ancestors tracing to the source groups of an admixed population. Genetics. 2023 Jul 06; 224(3). PMID: 37410594; PMCID: PMC10324943.
      Citations:    Fields:    Translation:Humans
    9. Zeng T, Spence JP, Mostafavi H, Pritchard JK. Bayesian estimation of gene constraint from an evolutionary model with gene features. Res Sq. 2023 Jun 13. PMID: 37398424; PMCID: PMC10312940.
    10. Xu AF, Molinuevo R, Fazzari E, Tom H, Zhang Z, Menendez J, Casey KM, Ruggero D, Hinck L, Pritchard JK, Barna M. Subfunctionalized expression drives evolutionary retention of ribosomal protein paralogs Rps27 and Rps27l in vertebrates. Elife. 2023 Jun 12; 12. PMID: 37306301; PMCID: PMC10313321.
      Citations: 1     Fields:    Translation:AnimalsCells
    11. Spence JP, Zeng T, Mostafavi H, Pritchard JK. Scaling the Discrete-time Wright Fisher model to biobank-scale datasets. bioRxiv. 2023 May 22. PMID: 37293115; PMCID: PMC10245735.
    12. Zeng T, Spence JP, Mostafavi H, Pritchard JK. Bayesian estimation of gene constraint from an evolutionary model with gene features. bioRxiv. 2023 May 21. PMID: 37292653; PMCID: PMC10245655.
    13. Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Lammers GJ, Fronczek R, Mayer G, Knudsen-Heier S, Bredahl MKL, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Huang YS, FinnGen, Jennum P, Nevsimalova S, Kemlink D, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Stefani A, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hesla PE, Rye D, Pelin Z, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ, Dauvilliers Y, Barateau L, Santamaria J, Arnulf I, Thorsby PM, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Iranzo A, Högl B, Coelho FM, Hallberg P, Ferini-Strambi L, Winkelmann J. Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nat Commun. 2023 05 15; 14(1):2709. PMID: 37188663; PMCID: PMC10185546.
      Citations: 1     Fields:    Translation:HumansCells
    14. Maksimov MO, Wu C, Ashbrook DG, Villani F, Colonna V, Mousavi N, Ma N, Lu L, Pritchard JK, Goren A, Williams RW, Palmer AA, Gymrek M. A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice. Genome Res. 2023 May; 33(5):689-702. PMID: 37127331; PMCID: PMC10317118.
      Citations:    Fields:    Translation:AnimalsCells
    15. Naqvi S, Kim S, Hoskens H, Matthews HS, Spritz RA, Klein OD, Swigut T, Claes P, Pritchard JK, Wysocka J, Hallgrímsson B. Precise modulation of transcription factor levels identifies features underlying dosage sensitivity. Nat Genet. 2023 05; 55(5):841-851. PMID: 37024583; PMCID: PMC10181932.
      Citations: 6     Fields:    Translation:HumansCells
    16. Rothschild D, Susanto TT, Spence JP, Genuth NR, Sinnott-Armstrong N, Pritchard JK, Barna M. A comprehensive rRNA variation atlas in health and disease. bioRxiv. 2023 Feb 02. PMID: 36778251; PMCID: PMC9915487.
    17. Smith CJ, Sinnott-Armstrong N, Cichonska A, Julkunen H, Fauman EB, Pritchard JK, Würtz P. Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation. Elife. 2022 09 08; 11. PMID: 36073519; PMCID: PMC9536840.
      Citations: 7     Fields:    
    18. Li Q, Gloudemans MJ, Geisinger JM, Fan B, Sun T, Ramaswami G, Li YI, Ma JB, Pritchard JK, Montgomery SB, Li JB, Aguet F. RNA editing underlies genetic risk of common inflammatory diseases. Nature. 2022 08; 608(7923):569-577. PMID: 35922514; PMCID: PMC9790998.
      Citations: 23     Fields:    Translation:HumansCells
    19. Freimer JW, Shaked O, Naqvi S, Sinnott-Armstrong N, Kathiria A, Garrido CM, Chen AF, Cortez JT, Greenleaf WJ, Pritchard JK, Marson A. Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks. Nat Genet. 2022 08; 54(8):1133-1144. PMID: 35817986; PMCID: PMC10035359.
      Citations: 13     Fields:    Translation:HumansCells
    20. Patel RA, Musharoff SA, Spence JP, Pimentel H, Tcheandjieu C, Mostafavi H, Sinnott-Armstrong N, Clarke SL, Smith CJ, V.A. Million Veteran Program, Durda PP, Taylor KD, Tracy R, Liu Y, Johnson WC, Aguet F, Ardlie KG, Gabriel S, Smith J, Nickerson DA, Rich SS, Rotter JI, Tsao PS, Assimes TL, Pritchard JK. Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits. Am J Hum Genet. 2022 07 07; 109(7):1286-1297. PMID: 35716666; PMCID: PMC9300878.
      Citations: 13     Fields:    Translation:Humans
    21. Sasani TA, Ashbrook DG, Beichman AC, Lu L, Palmer AA, Williams RW, Pritchard JK, Harris K. A natural mutator allele shapes mutation spectrum variation in mice. Nature. 2022 05; 605(7910):497-502. PMID: 35545679; PMCID: PMC9272728.
      Citations: 19     Fields:    Translation:Animals
    22. Wymant C, Bezemer D, Ferretti L, Gall A, Hall M, Golubchik T, Bakker M, Ong SH, Zhao L, Bonsall D, de Cesare M, MacIntyre-Cockett G, Albert J, Bannert N, Grabowski MK, Gunsenheimer-Bartmeyer B, Kouyos RD, Laeyendecker O, Porter K, Ristola M, van Sighem A, Berkhout B, Kellam P, Cornelissen M, Reiss P, Fraser C, Blanquart F, Abeler-Dörner L, Fellay J, Günthard HF, Kivelä P, Meyer L, Netherlands ATHENA HIV Observational Cohort†, BEEHIVE Collaboration†. A highly virulent variant of HIV-1 circulating in the Netherlands. Science. 2022 02 04; 375(6580):540-545. PMID: 35113714.
      Citations: 14     Fields:    Translation:HumansCells
    23. Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A, FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 Nov; 53(11):1622. PMID: 34608296.
      Citations: 2     Fields:    
    24. Claringbould A, Westra HJ, Bonder MJ, Deelen P, Zeng B, Kirsten H, Saha A, Kreuzhuber R, Yazar S, Brugge H, Oelen R, de Vries DH, van der Wijst MGP, Kasela S, Pervjakova N, Alves I, Christiansen MW, Jansen R, Tong L, Teumer A, Hemani G, Verlouw J, Yaghootkar H, Brown A, Kukushkina V, Kalnapenkis A, Porcu E, Kronberg J, Kettunen J, Lee B, Zhang F, Qi T, Hernandez JA, Arindrarto W, BIOS Consortium, i2QTL Consortium, Fairfax BP, Heijmans BT, Hewitt AW, Kim Y, Knight JC, Li S, Loeffler M, Marigorta UM, Mei H, Nauck M, Nivard MG, Penninx BWJH, Pritchard JK, Raitakari OT, Rotzschke O, Slagboom EP, Stehouwer CDA, Sullivan P, 't Hoen PAC, Thiery J, van Dongen J, van Iterson M, Veldink JH, Warmerdam R, Wijmenga C, Swertz M, Andiappan A, Montgomery GW, Ripatti S, Perola M, Kutalik Z, Dermitzakis E, Bergmann S, Frayling T, van Meurs J, Ahsan H, Pierce BL, Boomsma DI, Psaty BM, Gharib SA, Awadalla P, Milani L, Ouwehand WH, Downes K, Stegle O, Battle A, Visscher PM, Yang J, Scholz M, Powell J, Gibson G, Franke L, Võsa U, Favé MJ, Agbessi M, Seppälä I, Schramm K, Sönmez Flitman R, Rüeger S, Beutner F, Dmitrieva J, Elansary M, Georges M, Kähönen M, Kovacs P, Krohn K, Momozawa Y, Müller-Nurasyid M, Stumvoll M, Tönjes A, Völker U, Prokisch H, Lehtimäki T, Esko T. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nat Genet. 2021 09; 53(9):1300-1310. PMID: 34475573; PMCID: PMC8432599.
      Citations: 256     Fields:    Translation:HumansCells
    25. Naqvi S, Sleyp Y, Hoskens H, Indencleef K, Spence JP, Bruffaerts R, Radwan A, Eller RJ, Richmond S, Shriver MD, Shaffer JR, Weinberg SM, Walsh S, Thompson J, Pritchard JK, Sunaert S, Peeters H, Wysocka J, Claes P. Shared heritability of human face and brain shape. Nat Genet. 2021 06; 53(6):830-839. PMID: 33821002; PMCID: PMC8232039.
      Citations: 24     Fields:    Translation:Humans
    26. Sinnott-Armstrong N, Naqvi S, Rivas M, Pritchard JK. GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background. Elife. 2021 02 15; 10. PMID: 33587031; PMCID: PMC7884075.
      Citations: 37     Fields:    Translation:Humans
    27. Sinnott-Armstrong N, Laber S, Rendina-Ruedy E, Nitter Dankel SE, Ferreira T, Mellgren G, Karasik D, Rivas M, Pritchard J, Guntur AR, Cox RD, Lindgren CM, Sallari R, Rosen CJ, Hsu YH, Lander ES, Kiel DP, Claussnitzer M, Sousa IS, Hauner H. A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density. Cell Metab. 2021 03 02; 33(3):615-628.e13. PMID: 33513366; PMCID: PMC7928941.
      Citations: 16     Fields:    Translation:HumansCells
    28. Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A, FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 02; 53(2):185-194. PMID: 33462484; PMCID: PMC7867639.
      Citations: 176     Fields:    Translation:Humans
    29. Catania S, Dumesic PA, Pimentel H, Nasif A, Stoddard CI, Burke JE, Diedrich JK, Cooke S, Shea T, Gienger E, Lintner R, Yates JR, Hajkova P, Narlikar GJ, Cuomo CA, Pritchard JK, Madhani HD. Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase. Cell. 2020 Feb 20; 180(4):816. PMID: 32084344; PMCID: PMC7201975.
      Citations: 5     Fields:    
    30. Mostafavi H, Harpak A, Agarwal I, Conley D, Pritchard JK, Przeworski M. Variable prediction accuracy of polygenic scores within an ancestry group. Elife. 2020 01 30; 9. PMID: 31999256; PMCID: PMC7067566.
      Citations: 135     Fields:    Translation:Humans
    31. Trevino AE, Sinnott-Armstrong N, Andersen J, Yoon SJ, Huber N, Pritchard JK, Chang HY, Greenleaf WJ, Pa?ca SP. Chromatin accessibility dynamics in a model of human forebrain development. Science. 2020 01 24; 367(6476). PMID: 31974223; PMCID: PMC7313757.
      Citations: 80     Fields:    Translation:HumansAnimalsCells
    32. Catania S, Dumesic PA, Pimentel H, Nasif A, Stoddard CI, Burke JE, Diedrich JK, Cook S, Shea T, Geinger E, Lintner R, Yates JR, Hajkova P, Narlikar GJ, Cuomo CA, Pritchard JK, Madhani HD. Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase. Cell. 2020 01 23; 180(2):263-277.e20. PMID: 31955845; PMCID: PMC7197499.
      Citations: 37     Fields:    Translation:AnimalsCells
    33. Antonio ML, Gao Z, Moots HM, Candilio F, Sawyer S, Oberreiter V, Calderon D, Devitofranceschi K, Aikens RC, Cheronet O, Cotter DJ, Fernandes DM, Gasperetti G, Loreti E, Morretta S, Fiocchi Nicolai V, Pentiricci M, Pergola P, Piranomonte M, Schmidt R, Pinhasi R, Pritchard JK, Lucci M, Aneli S, Bartoli F, Bedini A, Grifoni R, Guidi A, La Pastina F, Manacorda D, Matullo G, Nava A, Nomi F, Pavolini C, Spinola G, Sperduti A, Rubini M, Bondioli L, Coppa A. Ancient Rome: A genetic crossroads of Europe and the Mediterranean. Science. 2019 11 08; 366(6466):708-714. PMID: 31699931; PMCID: PMC7093155.
      Citations: 59     Fields:    Translation:Humans
    34. Calderon D, Nguyen MLT, Mezger A, Kathiria A, Nguyen V, Lescano N, Wu B, Trombetta J, Ribado JV, Knowles DA, Gao Z, Blaeschke F, Parent AV, Burt TD, Anderson MS, Criswell LA, Greenleaf WJ, Marson A, Pritchard JK, Müller F. Landscape of stimulation-responsive chromatin across diverse human immune cells. Nat Genet. 2019 10; 51(10):1494-1505. PMID: 31570894; PMCID: PMC6858557.
      Citations: 102     Fields:    Translation:HumansCells
    35. Telis N, Glassberg EC, Pritchard JK, Gunter C. Public Discussion Affects Question Asking at Academic Conferences. Am J Hum Genet. 2019 07 03; 105(1):189-197. PMID: 31256875; PMCID: PMC6612753.
      Citations: 7     Fields:    Translation:Humans
    36. Liu X, Li YI, Pritchard JK. Trans Effects on Gene Expression Can Drive Omnigenic Inheritance. Cell. 2019 05 02; 177(4):1022-1034.e6. PMID: 31051098; PMCID: PMC6553491.
      Citations: 178     Fields:    Translation:Humans
    37. Stahlschmidt MC, Collin TC, Fernandes DM, Bar-Oz G, Belfer-Cohen A, Gao Z, Jakeli N, Matskevich Z, Meshveliani T, Pritchard JK, McDermott F, Pinhasi R. Ancient Mammalian and Plant DNA from Late Quaternary Stalagmite Layers at Solkota Cave, Georgia. Sci Rep. 2019 04 29; 9(1):6628. PMID: 31036834; PMCID: PMC6488622.
      Citations: 5     Fields:    Translation:Animals
    38. Berg JJ, Harpak A, Sinnott-Armstrong N, Joergensen AM, Mostafavi H, Field Y, Boyle EA, Zhang X, Racimo F, Pritchard JK, Coop G. Reduced signal for polygenic adaptation of height in UK Biobank. Elife. 2019 03 21; 8. PMID: 30895923; PMCID: PMC6428572.
      Citations: 151     Fields:    Translation:Humans
    39. Rosenberg NA, Edge MD, Pritchard JK, Feldman MW. Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences. Evol Med Public Health. 2019; 2019(1):26-34. PMID: 30838127; PMCID: PMC6393779.
      Citations: 40     
    40. Boyle EA, Pritchard JK, Greenleaf WJ. High-resolution mapping of cancer cell networks using co-functional interactions. Mol Syst Biol. 2018 12 20; 14(12):e8594. PMID: 30573688; PMCID: PMC6300813.
      Citations: 34     Fields:    Translation:HumansCells
    41. Glassberg EC, Gao Z, Harpak A, Lan X, Pritchard JK. Evidence for Weak Selective Constraint on Human Gene Expression. Genetics. 2019 02; 211(2):757-772. PMID: 30554168; PMCID: PMC6366908.
      Citations: 27     Fields:    Translation:HumansCells
    42. Sharon E, Chen SA, Khosla NM, Smith JD, Pritchard JK, Fraser HB. Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing. Cell. 2018 10 04; 175(2):544-557.e16. PMID: 30245013; PMCID: PMC6563827.
      Citations: 77     Fields:    Translation:AnimalsCells
    43. Wang SH, Hsiao CJ, Khan Z, Pritchard JK. Post-translational buffering leads to convergent protein expression levels between primates. Genome Biol. 2018 06 27; 19(1):83. PMID: 29950183; PMCID: PMC6020354.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    44. Knowles DA, Burrows CK, Blischak JD, Patterson KM, Serie DJ, Norton N, Ober C, Pritchard JK, Gilad Y. Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes. Elife. 2018 05 08; 7. PMID: 29737278; PMCID: PMC6010343.
      Citations: 46     Fields:    Translation:HumansCells
    45. Yamamoto R, Wilkinson AC, Ooehara J, Lan X, Lai CY, Nakauchi Y, Pritchard JK, Nakauchi H. Large-Scale Clonal Analysis Resolves Aging of the Mouse Hematopoietic Stem Cell Compartment. Cell Stem Cell. 2018 04 05; 22(4):600-607.e4. PMID: 29625072; PMCID: PMC5896201.
      Citations: 72     Fields:    Translation:AnimalsCells
    46. Sparvoli D, Richardson E, Osakada H, Lan X, Iwamoto M, Bowman GR, Kontur C, Bourland WA, Lynn DH, Pritchard JK, Haraguchi T, Dacks JB, Turkewitz AP. Remodeling the Specificity of an Endosomal CORVET Tether Underlies Formation of Regulated Secretory Vesicles in the Ciliate Tetrahymena thermophila. Curr Biol. 2018 03 05; 28(5):697-710.e13. PMID: 29478853; PMCID: PMC5840023.
      Citations: 8     Fields:    Translation:AnimalsCells
    47. Li YI, Knowles DA, Humphrey J, Barbeira AN, Dickinson SP, Im HK, Pritchard JK. Annotation-free quantification of RNA splicing using LeafCutter. Nat Genet. 2018 01; 50(1):151-158. PMID: 29229983; PMCID: PMC5742080.
      Citations: 243     Fields:    Translation:AnimalsCells
    48. Banovich NE, Li YI, Raj A, Ward MC, Greenside P, Calderon D, Tung PY, Burnett JE, Myrthil M, Thomas SM, Burrows CK, Romero IG, Pavlovic BJ, Kundaje A, Pritchard JK, Gilad Y. Impact of regulatory variation across human iPSCs and differentiated cells. Genome Res. 2018 01; 28(1):122-131. PMID: 29208628; PMCID: PMC5749177.
      Citations: 61     Fields:    Translation:HumansCells
    49. Harpak A, Lan X, Gao Z, Pritchard JK. Frequent nonallelic gene conversion on the human lineage and its effect on the divergence of gene duplicates. Proc Natl Acad Sci U S A. 2017 11 28; 114(48):12779-12784. PMID: 29138319; PMCID: PMC5715747.
      Citations: 19     Fields:    Translation:HumansAnimals
    50. Calderon D, Bhaskar A, Knowles DA, Golan D, Raj T, Fu AQ, Pritchard JK. Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression. Am J Hum Genet. 2017 Nov 02; 101(5):686-699. PMID: 29106824; PMCID: PMC5673624.
      Citations: 55     Fields:    Translation:HumansCells
    51. Sharon E, Shi H, Kharbanda S, Koh W, Martin LR, Khush KK, Valantine H, Pritchard JK, De Vlaminck I. Quantification of transplant-derived circulating cell-free DNA in absence of a donor genotype. PLoS Comput Biol. 2017 Aug; 13(8):e1005629. PMID: 28771616; PMCID: PMC5542400.
      Citations: 27     Fields:    Translation:Humans
    52. Boyle EA, Li YI, Pritchard JK. An Expanded View of Complex Traits: From Polygenic to Omnigenic. Cell. 2017 Jun 15; 169(7):1177-1186. PMID: 28622505; PMCID: PMC5536862.
      Citations: 1066     Fields:    Translation:HumansAnimals
    53. Harris K, Pritchard JK. Rapid evolution of the human mutation spectrum. Elife. 2017 04 25; 6. PMID: 28440220; PMCID: PMC5435464.
      Citations: 67     Fields:    Translation:Humans
    54. Nielsen R, Akey JM, Jakobsson M, Pritchard JK, Tishkoff S, Willerslev E. Tracing the peopling of the world through genomics. Nature. 2017 01 18; 541(7637):302-310. PMID: 28102248; PMCID: PMC5772775.
      Citations: 173     Fields:    Translation:HumansAnimals
    55. Tung PY, Blischak JD, Hsiao CJ, Knowles DA, Burnett JE, Pritchard JK, Gilad Y. Batch effects and the effective design of single-cell gene expression studies. Sci Rep. 2017 01 03; 7:39921. PMID: 28045081; PMCID: PMC5206706.
      Citations: 138     Fields:    Translation:HumansCells
    56. Harpak A, Bhaskar A, Pritchard JK. Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans. PLoS Genet. 2016 Dec; 12(12):e1006489. PMID: 27977673; PMCID: PMC5157949.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    57. Telis N, Lehmann BV, Feldman MW, Pritchard JK. A Bibliometric History of the Journal GENETICS. Genetics. 2016 12; 204(4):1337-1342. PMID: 27927899; PMCID: PMC5161266.
      Citations: 1     Fields:    
    58. Field Y, Boyle EA, Telis N, Gao Z, Gaulton KJ, Golan D, Yengo L, Rocheleau G, Froguel P, McCarthy MI, Pritchard JK. Detection of human adaptation during the past 2000 years. Science. 2016 11 11; 354(6313):760-764. PMID: 27738015; PMCID: PMC5182071.
      Citations: 165     Fields:    Translation:Humans
    59. Corces MR, Buenrostro JD, Wu B, Greenside PG, Chan SM, Koenig JL, Snyder MP, Pritchard JK, Kundaje A, Greenleaf WJ, Majeti R, Chang HY. Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution. Nat Genet. 2016 10; 48(10):1193-203. PMID: 27526324; PMCID: PMC5042844.
      Citations: 503     Fields:    Translation:HumansCells
    60. Kontur C, Kumar S, Lan X, Pritchard JK, Turkewitz AP. Whole Genome Sequencing Identifies a Novel Factor Required for Secretory Granule Maturation in Tetrahymena thermophila. G3 (Bethesda). 2016 08 09; 6(8):2505-16. PMID: 27317773; PMCID: PMC4978903.
      Citations: 7     Fields:    Translation:AnimalsCells
    61. Sharon E, Sibener LV, Battle A, Fraser HB, Garcia KC, Pritchard JK. Genetic variation in MHC proteins is associated with T cell receptor expression biases. Nat Genet. 2016 09; 48(9):995-1002. PMID: 27479906; PMCID: PMC5010864.
      Citations: 64     Fields:    Translation:HumansCells
    62. Parker CC, Gopalakrishnan S, Carbonetto P, Gonzales NM, Leung E, Park YJ, Aryee E, Davis J, Blizard DA, Ackert-Bicknell CL, Lionikas A, Pritchard JK, Palmer AA. Genome-wide association study of behavioral, physiological and gene expression traits in outbred CFW mice. Nat Genet. 2016 08; 48(8):919-26. PMID: 27376237; PMCID: PMC4963286.
      Citations: 44     Fields:    Translation:Animals
    63. Raj A, Wang SH, Shim H, Harpak A, Li YI, Engelmann B, Stephens M, Gilad Y, Pritchard JK. Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling. Elife. 2016 05 27; 5. PMID: 27232982; PMCID: PMC4940163.
      Citations: 66     Fields:    Translation:HumansCells
    64. Lan X, Pritchard JK. Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals. Science. 2016 May 20; 352(6288):1009-13. PMID: 27199432; PMCID: PMC5182070.
      Citations: 82     Fields:    Translation:HumansAnimalsCells
    65. Li YI, van de Geijn B, Raj A, Knowles DA, Petti AA, Golan D, Gilad Y, Pritchard JK. RNA splicing is a primary link between genetic variation and disease. Science. 2016 Apr 29; 352(6285):600-4. PMID: 27126046; PMCID: PMC5182069.
      Citations: 281     Fields:    Translation:HumansCells
    66. Burrows CK, Banovich NE, Pavlovic BJ, Patterson K, Gallego Romero I, Pritchard JK, Gilad Y. Genetic Variation, Not Cell Type of Origin, Underlies the Majority of Identifiable Regulatory Differences in iPSCs. PLoS Genet. 2016 Jan; 12(1):e1005793. PMID: 26812582; PMCID: PMC4727884.
      Citations: 71     Fields:    Translation:HumansCells
    67. Gymrek M, Willems T, Guilmatre A, Zeng H, Markus B, Georgiev S, Daly MJ, Price AL, Pritchard JK, Sharp AJ, Erlich Y. Abundant contribution of short tandem repeats to gene expression variation in humans. Nat Genet. 2016 Jan; 48(1):22-9. PMID: 26642241; PMCID: PMC4909355.
      Citations: 164     Fields:    Translation:HumansCells
    68. Raj A, Shim H, Gilad Y, Pritchard JK, Stephens M. msCentipede: Modeling Heterogeneity across Genomic Sites and Replicates Improves Accuracy in the Inference of Transcription Factor Binding. PLoS One. 2015; 10(9):e0138030. PMID: 26406244; PMCID: PMC4583425.
      Citations: 19     Fields:    Translation:HumansCells
    69. van de Geijn B, McVicker G, Gilad Y, Pritchard JK. WASP: allele-specific software for robust molecular quantitative trait locus discovery. Nat Methods. 2015 Nov; 12(11):1061-3. PMID: 26366987; PMCID: PMC4626402.
      Citations: 241     Fields:    Translation:Humans
    70. Grubert F, Zaugg JB, Kasowski M, Ursu O, Spacek DV, Martin AR, Greenside P, Srivas R, Phanstiel DH, Pekowska A, Heidari N, Euskirchen G, Huber W, Pritchard JK, Bustamante CD, Steinmetz LM, Kundaje A, Snyder M. Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions. Cell. 2015 Aug 27; 162(5):1051-65. PMID: 26300125; PMCID: PMC4556133.
      Citations: 177     Fields:    Translation:HumansCells
    71. Thomas SM, Kagan C, Pavlovic BJ, Burnett J, Patterson K, Pritchard JK, Gilad Y. Reprogramming LCLs to iPSCs Results in Recovery of Donor-Specific Gene Expression Signature. PLoS Genet. 2015 May; 11(5):e1005216. PMID: 25950834; PMCID: PMC4423863.
      Citations: 19     Fields:    Translation:HumansCells
    72. Pai AA, Pritchard JK, Gilad Y. The genetic and mechanistic basis for variation in gene regulation. PLoS Genet. 2015 Jan; 11(1):e1004857. PMID: 25569255; PMCID: PMC4287341.
      Citations: 82     Fields:    Translation:HumansCells
    73. Battle A, Khan Z, Wang SH, Mitrano A, Ford MJ, Pritchard JK, Gilad Y. Genomic variation. Impact of regulatory variation from RNA to protein. Science. 2015 Feb 06; 347(6222):664-7. PMID: 25657249; PMCID: PMC4507520.
      Citations: 212     Fields:    Translation:HumansCells
    74. Banovich NE, Lan X, McVicker G, van de Geijn B, Degner JF, Blischak JD, Roux J, Pritchard JK, Gilad Y. Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels. PLoS Genet. 2014 Sep; 10(9):e1004663. PMID: 25233095; PMCID: PMC4169251.
      Citations: 152     Fields:    Translation:HumansCells
    75. Pritchard JK, Ober C, Gilad Y, Çaliskan M. The effect of freeze-thaw cycles on gene expression levels in lymphoblastoid cell lines. PLoS One. 2014; 9(9):e107166. PMID: 25192014; PMCID: PMC4156430.
      Citations: 14     Fields:    Translation:HumansCells
    76. Raj A, Stephens M, Pritchard JK. fastSTRUCTURE: variational inference of population structure in large SNP data sets. Genetics. 2014 Jun; 197(2):573-89. PMID: 24700103; PMCID: PMC4063916.
      Citations: 555     Fields:    Translation:Humans
    77. Cusanovich DA, Pavlovic B, Pritchard JK, Gilad Y. The functional consequences of variation in transcription factor binding. PLoS Genet. 2014 Mar; 10(3):e1004226. PMID: 24603674; PMCID: PMC3945204.
      Citations: 111     Fields:    Translation:HumansCells
    78. Simons YB, Turchin MC, Pritchard JK, Sella G. The deleterious mutation load is insensitive to recent population history. Nat Genet. 2014 Mar; 46(3):220-4. PMID: 24509481; PMCID: PMC3953611.
      Citations: 145     Fields:    Translation:Humans
    79. Nalabothula N, McVicker G, Maiorano J, Martin R, Pritchard JK, Fondufe-Mittendorf YN. The chromatin architectural proteins HMGD1 and H1 bind reciprocally and have opposite effects on chromatin structure and gene regulation. BMC Genomics. 2014 Feb 01; 15:92. PMID: 24484546; PMCID: PMC3928079.
      Citations: 20     Fields:    Translation:AnimalsCells
    80. Zhou X, Cain CE, Myrthil M, Lewellen N, Michelini K, Davenport ER, Stephens M, Pritchard JK, Gilad Y. Epigenetic modifications are associated with inter-species gene expression variation in primates. Genome Biol. 2014; 15(12):547. PMID: 25468404; PMCID: PMC4290387.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    81. Jeong C, Alkorta-Aranburu G, Basnyat B, Neupane M, Witonsky DB, Pritchard JK, Beall CM, Di Rienzo A. Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun. 2014; 5:3281. PMID: 24513612; PMCID: PMC4643256.
      Citations: 97     Fields:    Translation:Humans
    82. Birney E, Pritchard JK. Archaic humans: Four makes a party. Nature. 2014 Jan 02; 505(7481):32-4. PMID: 24352230.
      Citations:    Fields:    Translation:HumansAnimals
    83. Khan Z, Ford MJ, Cusanovich DA, Mitrano A, Pritchard JK, Gilad Y. Primate transcript and protein expression levels evolve under compensatory selection pressures. Science. 2013 Nov 29; 342(6162):1100-4. PMID: 24136357; PMCID: PMC3994702.
      Citations: 124     Fields:    Translation:HumansAnimalsCells
    84. McVicker G, van de Geijn B, Degner JF, Cain CE, Banovich NE, Raj A, Lewellen N, Myrthil M, Gilad Y, Pritchard JK. Identification of genetic variants that affect histone modifications in human cells. Science. 2013 Nov 08; 342(6159):747-9. PMID: 24136359; PMCID: PMC3947669.
      Citations: 245     Fields:    Translation:HumansCells
    85. Wen X, Pritchard J, Stephens M, Flutre T. A statistical framework for joint eQTL analysis in multiple tissues. PLoS Genet. 2013 May; 9(5):e1003486. PMID: 23671422; PMCID: PMC3649995.
      Citations: 133     Fields:    
    86. Alkorta-Aranburu G, Beall CM, Witonsky DB, Gebremedhin A, Pritchard JK, Di Rienzo A. The genetic architecture of adaptations to high altitude in Ethiopia. PLoS Genet. 2012; 8(12):e1003110. PMID: 23236293; PMCID: PMC3516565.
      Citations: 98     Fields:    Translation:HumansCells
    87. Gaffney DJ, McVicker G, Pai AA, Fondufe-Mittendorf YN, Lewellen N, Michelini K, Widom J, Gilad Y, Pritchard JK. Controls of nucleosome positioning in the human genome. PLoS Genet. 2012; 8(11):e1003036. PMID: 23166509; PMCID: PMC3499251.
      Citations: 155     Fields:    Translation:HumansCells
    88. Pickrell JK, Pritchard JK. Inference of population splits and mixtures from genome-wide allele frequency data. PLoS Genet. 2012; 8(11):e1002967. PMID: 23166502; PMCID: PMC3499260.
      Citations: 929     Fields:    Translation:HumansAnimals
    89. Pai AA, Cain CE, Mizrahi-Man O, De Leon S, Lewellen N, Veyrieras JB, Degner JF, Gaffney DJ, Pickrell JK, Stephens M, Pritchard JK, Gilad Y. The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels. PLoS Genet. 2012; 8(10):e1003000. PMID: 23071454; PMCID: PMC3469421.
      Citations: 63     Fields:    Translation:HumansCells
    90. Ecker JR, Bickmore WA, Pritchard JK, Gilad Y, Segal E, Barroso I. Genomics: ENCODE explained. Nature. 2012 Sep 06; 489(7414):52-5. PMID: 22955614.
      Citations: 101     Fields:    Translation:HumansCells
    91. Zullo JM, Demarco IA, Gaffney DJ, Epstein CB, Spooner CJ, Luperchio TR, Bernstein BE, Pritchard JK, Reddy KL, Singh H, Piqué-Regi R. DNA sequence-dependent compartmentalization and silencing of chromatin at the nuclear lamina. Cell. 2012 Jun 22; 149(7):1474-87. PMID: 22726435.
      Citations: 235     Fields:    Translation:AnimalsCells
    92. Pickrell JK, Gilad Y, Pritchard JK. Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science. 2012 Mar 16; 335(6074):1302; author reply 1302. PMID: 22422963; PMCID: PMC5207799.
      Citations: 110     Fields:    Translation:Humans
    93. MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 Feb 17; 335(6070):823-8. PMID: 22344438; PMCID: PMC3299548.
      Citations: 649     Fields:    Translation:Humans
    94. Veyrieras JB, Gaffney DJ, Pickrell JK, Gilad Y, Stephens M, Pritchard JK. Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. PLoS One. 2012; 7(2):e30629. PMID: 22359548; PMCID: PMC3281037.
      Citations: 16     Fields:    Translation:HumansCells
    95. Degner JF, Pai AA, Pique-Regi R, Veyrieras JB, Gaffney DJ, Pickrell JK, De Leon S, Michelini K, Lewellen N, Crawford GE, Stephens M, Gilad Y, Pritchard JK. DNase?I sensitivity QTLs are a major determinant of human expression variation. Nature. 2012 Feb 05; 482(7385):390-4. PMID: 22307276; PMCID: PMC3501342.
      Citations: 377     Fields:    Translation:HumansCells
    96. Gaffney DJ, Veyrieras JB, Degner JF, Pique-Regi R, Pai AA, Crawford GE, Stephens M, Gilad Y, Pritchard JK. Dissecting the regulatory architecture of gene expression QTLs. Genome Biol. 2012 Jan 31; 13(1):R7. PMID: 22293038; PMCID: PMC3334587.
      Citations: 126     Fields:    Translation:HumansCells
    97. Perry GH, Marioni JC, Wang Y, Bainer R, Pickrell JK, Michelini K, Zehr S, Yoder AD, Stephens M, Pritchard JK, Gilad Y, Melsted P. Comparative RNA sequencing reveals substantial genetic variation in endangered primates. Genome Res. 2012 Apr; 22(4):602-10. PMID: 22207615; PMCID: PMC3317143.
      Citations: 72     Fields:    Translation:HumansAnimalsCells
    98. Perry GH, Reeves D, Ratan A, Miller W, Michelini K, Louis EE, Pritchard JK, Mason CE, Gilad Y, Melsted P. A genome sequence resource for the aye-aye (Daubentonia madagascariensis), a nocturnal lemur from Madagascar. Genome Biol Evol. 2012; 4(2):126-35. PMID: 22155688; PMCID: PMC3273163.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    99. Huang L, Jakobsson M, Pemberton TJ, Ibrahim M, Nyambo T, Omar S, Pritchard JK, Tishkoff SA, Rosenberg NA. Haplotype variation and genotype imputation in African populations. Genet Epidemiol. 2011 Dec; 35(8):766-80. PMID: 22125220; PMCID: PMC3568705.
      Citations: 27     Fields:    Translation:Humans
    100. Pritchard JK. Whole-genome sequencing data offer insights into human demography. Nat Genet. 2011 Sep 28; 43(10):923-5. PMID: 21956387.
      Citations: 10     Fields:    Translation:Humans
    101. Pritchard JK, Melsted P. Efficient counting of k-mers in DNA sequences using a bloom filter. BMC Bioinformatics. 2011 Aug 10; 12:333. PMID: 21831268; PMCID: PMC3166945.
      Citations: 68     Fields:    Translation:Humans
    102. Pickrell JK, Gaffney DJ, Gilad Y, Pritchard JK. False positive peaks in ChIP-seq and other sequencing-based functional assays caused by unannotated high copy number regions. Bioinformatics. 2011 Aug 01; 27(15):2144-6. PMID: 21690102; PMCID: PMC3137225.
      Citations: 54     Fields:    Translation:HumansCells
    103. Hancock AM, Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate-mediated selective pressures in humans. PLoS Genet. 2011 Apr; 7(4):e1001375. PMID: 21533023; PMCID: PMC3080864.
      Citations: 124     Fields:    Translation:Humans
    104. Pai AA, Bell JT, Marioni JC, Pritchard JK, Gilad Y. A genome-wide study of DNA methylation patterns and gene expression levels in multiple human and chimpanzee tissues. PLoS Genet. 2011 Feb; 7(2):e1001316. PMID: 21383968; PMCID: PMC3044686.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    105. Bell JT, Pai AA, Pickrell JK, Gaffney DJ, Pique-Regi R, Degner JF, Gilad Y, Pritchard JK. DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. Genome Biol. 2011; 12(1):R10. PMID: 21251332; PMCID: PMC3091299.
      Citations: 479     Fields:    Translation:HumansCells
    106. Pritchard J, Loeb A. Cosmology: Hydrogen was not ionized abruptly. Nature. 2010 Dec 09; 468(7325):772-3. PMID: 21150988.
      Citations:    Fields:    
    107. Pickrell JK, Pai AA, Gilad Y, Pritchard JK. Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet. 2010 Dec 09; 6(12):e1001236. PMID: 21151575; PMCID: PMC3000347.
      Citations: 166     Fields:    Translation:HumansCells
    108. Pique-Regi R, Degner JF, Pai AA, Gaffney DJ, Gilad Y, Pritchard JK. Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data. Genome Res. 2011 Mar; 21(3):447-55. PMID: 21106904; PMCID: PMC3044858.
      Citations: 330     Fields:    Translation:HumansCells
    109. Pritchard JK. How we are evolving. Sci Am. 2010 Oct; 303(4):40-7. PMID: 20923127.
      Citations: 6     Fields:    Translation:Humans
    110. Pritchard JK, Di Rienzo A. Adaptation - not by sweeps alone. Nat Rev Genet. 2010 Oct; 11(10):665-7. PMID: 20838407; PMCID: PMC4652788.
      Citations: 182     Fields:    Translation:HumansAnimals
    111. Coop G, Witonsky D, Di Rienzo A, Pritchard JK. Using environmental correlations to identify loci underlying local adaptation. Genetics. 2010 Aug; 185(4):1411-23. PMID: 20516501; PMCID: PMC2927766.
      Citations: 250     Fields:    Translation:HumansAnimals
    112. Hancock AM, Witonsky DB, Ehler E, Alkorta-Aranburu G, Beall C, Gebremedhin A, Sukernik R, Utermann G, Pritchard J, Coop G, Di Rienzo A. Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency. Proc Natl Acad Sci U S A. 2010 May 11; 107 Suppl 2:8924-30. PMID: 20445095; PMCID: PMC3024024.
      Citations: 114     Fields:    Translation:HumansAnimals
    113. Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature. 2010 Apr 01; 464(7289):768-72. PMID: 20220758; PMCID: PMC3089435.
      Citations: 768     Fields:    Translation:HumansCells
    114. Pritchard JK, Pickrell JK, Coop G. The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation. Curr Biol. 2010 Feb 23; 20(4):R208-15. PMID: 20178769; PMCID: PMC2994553.
      Citations: 393     Fields:    Translation:Humans
    115. Degner JF, Marioni JC, Pai AA, Pickrell JK, Nkadori E, Gilad Y, Pritchard JK. Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data. Bioinformatics. 2009 Dec 15; 25(24):3207-12. PMID: 19808877; PMCID: PMC2788925.
      Citations: 275     Fields:    Translation:HumansCells
    116. Gilad Y, Pritchard JK, Thornton K. Characterizing natural variation using next-generation sequencing technologies. Trends Genet. 2009 Oct; 25(10):463-71. PMID: 19801172; PMCID: PMC3994700.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    117. Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, Absher D, Myers RM, Cavalli-Sforza LL, Feldman MW, Pritchard JK. The role of geography in human adaptation. PLoS Genet. 2009 Jun; 5(6):e1000500. PMID: 19503611; PMCID: PMC2685456.
      Citations: 192     Fields:    Translation:Humans
    118. Davison D, Pritchard JK, Coop G. An approximate likelihood for genetic data under a model with recombination and population splitting. Theor Popul Biol. 2009 Jun; 75(4):331-45. PMID: 19362099; PMCID: PMC3108256.
      Citations: 11     Fields:    
    119. Hubisz MJ, Falush D, Stephens M, Pritchard JK. Inferring weak population structure with the assistance of sample group information. Mol Ecol Resour. 2009 Sep; 9(5):1322-32. PMID: 21564903; PMCID: PMC3518025.
      Citations: 976     Fields:    
    120. Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D, Srinivasan BS, Barsh GS, Myers RM, Feldman MW, Pritchard JK. Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 2009 May; 19(5):826-37. PMID: 19307593; PMCID: PMC2675971.
      Citations: 416     Fields:    Translation:Humans
    121. Schroeder KB, Jakobsson M, Crawford MH, Schurr TG, Boca SM, Conrad DF, Tito RY, Osipova LP, Tarskaia LA, Zhadanov SI, Wall JD, Pritchard JK, Malhi RS, Smith DG, Rosenberg NA. Haplotypic background of a private allele at high frequency in the Americas. Mol Biol Evol. 2009 May; 26(5):995-1016. PMID: 19221006; PMCID: PMC2734135.
      Citations: 18     Fields:    Translation:HumansCells
    122. Kudaravalli S, Veyrieras JB, Stranger BE, Dermitzakis ET, Pritchard JK. Gene expression levels are a target of recent natural selection in the human genome. Mol Biol Evol. 2009 Mar; 26(3):649-58. PMID: 19091723; PMCID: PMC2767089.
      Citations: 55     Fields:    Translation:HumansCells
    123. Veyrieras JB, Kudaravalli S, Kim SY, Dermitzakis ET, Gilad Y, Stephens M, Pritchard JK. High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet. 2008 Oct; 4(10):e1000214. PMID: 18846210; PMCID: PMC2556086.
      Citations: 353     Fields:    Translation:HumansCells
    124. Gilad Y, Rifkin SA, Pritchard JK. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 2008 Aug; 24(8):408-15. PMID: 18597885; PMCID: PMC2583071.
      Citations: 264     Fields:    Translation:HumansAnimals
    125. Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet. 2008 Feb; 4(2):e32. PMID: 18282109; PMCID: PMC2242814.
      Citations: 131     Fields:    Translation:Humans
    126. Coop G, Wen X, Ober C, Pritchard JK, Przeworski M. High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science. 2008 Mar 07; 319(5868):1395-8. PMID: 18239090.
      Citations: 213     Fields:    Translation:Humans
    127. Novembre J, Pritchard JK, Coop G. Adaptive drool in the gene pool. Nat Genet. 2007 Oct; 39(10):1188-90. PMID: 17898775.
      Citations: 3     Fields:    Translation:Humans
    128. Kim SY, Pritchard JK. Adaptive evolution of conserved noncoding elements in mammals. PLoS Genet. 2007 Sep; 3(9):1572-86. PMID: 17845075; PMCID: PMC1971121.
      Citations: 40     Fields:    Translation:HumansAnimals
    129. Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes. 2007 Jul 01; 7(4):574-578. PMID: 18784791; PMCID: PMC1974779.
      Citations: 783     
    130. Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA. Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Ann Hum Genet. 2008 Jul; 72(Pt 4):535-46. PMID: 18513279; PMCID: PMC2495051.
      Citations: 22     Fields:    Translation:Humans
    131. Human Genome Structural Variation Working Group, Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5. PMID: 17495918; PMCID: PMC2685471.
      Citations: 90     Fields:    Translation:Humans
    132. Zollner S, Pritchard JK. Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet. 2007 Apr; 80(4):605-15. PMID: 17357068; PMCID: PMC1852705.
      Citations: 186     Fields:    Translation:Humans
    133. Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M, Ibrahim M, Omar SA, Lema G, Nyambo TB, Ghori J, Bumpstead S, Pritchard JK, Wray GA, Deloukas P. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet. 2007 Jan; 39(1):31-40. PMID: 17159977; PMCID: PMC2672153.
      Citations: 508     Fields:    Translation:HumansAnimalsCells
    134. Noonan JP, Coop G, Kudaravalli S, Smith D, Krause J, Alessi J, Chen F, Platt D, Pritchard JK, Rubin EM, Pääbo S. Sequencing and analysis of Neanderthal genomic DNA. Science. 2006 Nov 17; 314(5802):1113-8. PMID: 17110569; PMCID: PMC2583069.
      Citations: 132     Fields:    Translation:HumansAnimalsCells
    135. Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg NA, Pritchard JK. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet. 2006 Nov; 38(11):1251-60. PMID: 17057719.
      Citations: 234     Fields:    Translation:Humans
    136. Nanduri VR, Pritchard J, Levitt G, Glaser AW. Long term morbidity and health related quality of life after multi-system Langerhans cell histiocytosis. Eur J Cancer. 2006 Oct; 42(15):2563-9. PMID: 16959486.
      Citations: 10     Fields:    Translation:Humans
    137. Murgia C, Pritchard JK, Kim SY, Fassati A, Weiss RA. Clonal origin and evolution of a transmissible cancer. Cell. 2006 Aug 11; 126(3):477-87. PMID: 16901782; PMCID: PMC2593932.
      Citations: 136     Fields:    Translation:AnimalsCells
    138. Voight BF, Kudaravalli S, Wen X, Pritchard JK. A map of recent positive selection in the human genome. PLoS Biol. 2006 Mar; 4(3):e72. PMID: 16494531; PMCID: PMC1382018.
      Citations: 1366     Fields:    Translation:HumansCells
    139. Hellenthal G, Pritchard JK, Stephens M. The effects of genotype-dependent recombination, and transmission asymmetry, on linkage disequilibrium. Genetics. 2006 Mar; 172(3):2001-5. PMID: 16387890; PMCID: PMC1456301.
      Citations: 7     Fields:    Translation:Humans
    140. Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW. Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 2005 Dec; 1(6):e70. PMID: 16355252; PMCID: PMC1310579.
      Citations: 207     Fields:    Translation:Humans
    141. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet. 2006 Jan; 38(1):75-81. PMID: 16327808.
      Citations: 297     Fields:    Translation:Humans
    142. Voight BF, Pritchard JK. Confounding from cryptic relatedness in case-control association studies. PLoS Genet. 2005 Sep; 1(3):e32. PMID: 16151517; PMCID: PMC1200427.
      Citations: 103     Fields:    Translation:Humans
    143. Wen X, Pritchard JK, Zöllner S. Association mapping and fine mapping with TreeLD. Bioinformatics. 2005 Jul 15; 21(14):3168-70. PMID: 15855250; PMCID: PMC2587010.
      Citations: 1     Fields:    
    144. Pritchard JK, Zöllner S. Coalescent-based association mapping and fine mapping of complex trait loci. Genetics. 2005 Feb; 169(2):1071-92. PMID: 15489534; PMCID: PMC1449137.
      Citations: 58     Fields:    Translation:Humans
    145. Montana G, Pritchard JK. Statistical tests for admixture mapping with case-control and cases-only data. Am J Hum Genet. 2004 Nov; 75(5):771-89. PMID: 15386213; PMCID: PMC1182107.
      Citations: 89     Fields:    Translation:Humans
    146. Horton R, Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. Read all about it: The Lancet's Paper of the Year, 2003. Lancet. 2003 Dec 20; 362(9401):2101-3. PMID: 14697815; PMCID: PMC7123340.
      Citations: 1     Fields:    
    147. Wen X, Hanchard NA, Herbert MA, Ober C, Pritchard JK, Zöllner S. Evidence for extensive transmission distortion in the human genome. Am J Hum Genet. 2004 Jan; 74(1):62-72. PMID: 14681832; PMCID: PMC1181913.
      Citations: 42     Fields:    Translation:HumansCells
    148. Rosenberg NA, Li LM, Ward R, Pritchard JK. Informativeness of genetic markers for inference of ancestry. Am J Hum Genet. 2003 Dec; 73(6):1402-22. PMID: 14631557; PMCID: PMC1180403.
      Citations: 277     Fields:    Translation:Humans
    149. Wall JD, Pritchard JK. Assessing the performance of the haplotype block model of linkage disequilibrium. Am J Hum Genet. 2003 Sep; 73(3):502-15. PMID: 12916017; PMCID: PMC1180676.
      Citations: 48     Fields:    
    150. Wall JD, Pritchard JK. Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet. 2003 Aug; 4(8):587-97. PMID: 12897771.
      Citations: 201     Fields:    Translation:Humans
    151. Stephens M, Pritchard JK, Falush D. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics. 2003 Aug; 164(4):1567-87. PMID: 12930761; PMCID: PMC1462648.
      Citations: 2604     Fields:    Translation:HumansAnimalsCells
    152. Wirth T, Linz B, Pritchard JK, Stephens M, Kidd M, Blaser MJ, Graham DY, Vacher S, Perez-Perez GI, Yamaoka Y, Otto K, Reichard U, Katzowitsch E, Wang X, Achtman M, Suerbaum S, Falush D, Mégraud F. Traces of human migrations in Helicobacter pylori populations. Science. 2003 Mar 07; 299(5612):1582-5. PMID: 12624269.
      Citations: 411     Fields:    Translation:HumansCells
    153. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. Genetic structure of human populations. Science. 2002 Dec 20; 298(5602):2381-5. PMID: 12493913.
      Citations: 868     Fields:    Translation:HumansCells
    154. Pritchard JK, Cox NJ, Pritchard JK, Cox NJ. The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet. 2002 Oct 01; 11(20):2417-23. PMID: 12351577.
      Citations: 284     Fields:    Translation:Humans
    155. Pritchard JK, Donnelly P. Case-control studies of association in structured or admixed populations. Theor Popul Biol. 2001 Nov; 60(3):227-37. PMID: 11855957.
      Citations: 136     Fields:    Translation:Humans
    156. Pritchard JK. Deconstructing maize population structure. Nat Genet. 2001 Jul; 28(3):203-4. PMID: 11431683.
      Citations: 7     Fields:    Translation:Animals
    157. Pritchard JK, Przeworski M. Linkage disequilibrium in humans: models and data. Am J Hum Genet. 2001 Jul; 69(1):1-14. PMID: 11410837; PMCID: PMC1226024.
      Citations: 431     Fields:    Translation:Humans
    158. Pritchard JK, Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet. 2001 Jul; 69(1):124-37. PMID: 11404818; PMCID: PMC1226027.
      Citations: 456     Fields:    Translation:Humans
    159. Beaumont M, Barratt EM, Gottelli D, Kitchener AC, Daniels MJ, Pritchard JK, Bruford MW. Genetic diversity and introgression in the Scottish wildcat. Mol Ecol. 2001 Feb; 10(2):319-36. PMID: 11298948.
      Citations: 64     Fields:    Translation:AnimalsCells
    160. Rosenberg NA, Woolf E, Pritchard JK, Schaap T, Gefel D, Shpirer I, Lavi U, Bonne-Tamir B, Hillel J, Feldman MW. Distinctive genetic signatures in the Libyan Jews. Proc Natl Acad Sci U S A. 2001 Jan 30; 98(3):858-63. PMID: 11158561; PMCID: PMC14674.
      Citations: 13     Fields:    Translation:HumansCells
    161. Thomson R, Pritchard JK, Shen P, Oefner PJ, Feldman MW. Recent common ancestry of human Y chromosomes: evidence from DNA sequence data. Proc Natl Acad Sci U S A. 2000 Jun 20; 97(13):7360-5. PMID: 10861004; PMCID: PMC16550.
      Citations: 99     Fields:    Translation:HumansCells
    162. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics. 2000 Jun; 155(2):945-59. PMID: 10835412; PMCID: PMC1461096.
      Citations: 9258     Fields:    Translation:Humans
    163. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. Association mapping in structured populations. Am J Hum Genet. 2000 Jul; 67(1):170-81. PMID: 10827107; PMCID: PMC1287075.
      Citations: 656     Fields:    Translation:Humans
    164. Allen RW, Traver M, Pritchard JK. DNA analysis in a paternity case involving a triploid fetus. Transfusion. 2000 Feb; 40(2):240-4. PMID: 10686009.
      Citations:    Fields:    Translation:Humans
    165. Pritchard JK, Seielstad MT, Perez-Lezaun A, Feldman MW. Population growth of human Y chromosomes: a study of Y chromosome microsatellites. Mol Biol Evol. 1999 Dec; 16(12):1791-8. PMID: 10605120.
      Citations: 213     Fields:    Translation:HumansCells
    166. Pritchard JK, Rosenberg NA. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet. 1999 Jul; 65(1):220-8. PMID: 10364535; PMCID: PMC1378093.
      Citations: 361     Fields:    Translation:Humans
    167. Robson AJ, Bergstrom CT, Pritchard JK. Risky business: sexual and asexual reproduction in variable environments. J Theor Biol. 1999 Apr 21; 197(4):541-56. PMID: 10196096.
      Citations: 5     Fields:    Translation:Animals
    168. Bergstrom CT, Pritchard J. Germline bottlenecks and the evolutionary maintenance of mitochondrial genomes. Genetics. 1998 Aug; 149(4):2135-46. PMID: 9691064; PMCID: PMC1460283.
      Citations: 69     Fields:    Translation:Cells
    169. Pritchard JK, Schaeffer SW. Polymorphism and divergence at a Drosophila pseudogene locus. Genetics. 1997 Sep; 147(1):199-208. PMID: 9286680; PMCID: PMC1208104.
      Citations: 9     Fields:    Translation:AnimalsCells
    170. Pritchard JK, Feldman MW. Statistics for microsatellite variation based on coalescence. Theor Popul Biol. 1996 Dec; 50(3):325-44. PMID: 9000493.
      Citations: 16     Fields:    Translation:Cells
    171. Pritchard JK, Feldman MW. Genetic data and the African origin of humans. Science. 1996 Nov 29; 274(5292):1548-9. PMID: 8966621.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    172. Pritchard JK, Feldman MW. Genetic data and the african origin of humans. Science. 1996 Nov 29; 274(5292):1548a. PMID: 17816997.
      Citations:    Fields:    
    173. Yu RC, Morris JF, Pritchard J, Chu TC. Defective alloantigen-presenting capacity of 'Langerhans cell histiocytosis cells'. Arch Dis Child. 1992 Nov; 67(11):1370-2. PMID: 1471889; PMCID: PMC1793774.
      Citations: 8     Fields:    Translation:HumansCells
    174. Purtilo DT, Sakamoto K, Saemundsen AK, Sullivan JL, Synnerholm AC, Anvret M, Pritchard J, Sloper C, Sieff C, Pincott J, Pachman L, Rich K, Cruzi F, Cornet JA, Collins R, Barnes N, Knight J, Sandstedt B, Klein G. Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by clinical, virological, and immunopathological studies. Cancer Res. 1981 Nov; 41(11 Pt 1):4226-36. PMID: 6272967.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
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