Kelly Frazer

Title(s)Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
    Collapse Research Activities and Funding
    Genetic & Social Determinants of Health: Center for Admixture Science and Technology
    NIH RM1HG011558Sep 22, 2021 - Jun 30, 2026
    Role: Co-Principal Investigator
    Unraveling the molecular pathology of retinal degeneration through single cell genomics
    NIH R01EY031663Jun 1, 2021 - May 31, 2026
    Role: Co-Principal Investigator
    Omics Data Generation Center (ODGC) for the Acute to Chronic Pain Signatures (A2CPS) Program
    NIH U54DA049115Sep 1, 2019 - Jul 31, 2023
    Role: Co-Principal Investigator
    Fine-mapping and functional analysis of T1D-associated variants
    NIH DP3DK112155Sep 30, 2016 - May 31, 2021
    Role: Principal Investigator
    Functional Analysis of T2D Associated Non-coding SNPs
    NIH U01DK105541May 1, 2015 - Apr 30, 2020
    Role: Principal Investigator
    Optimizing HaploSeq for whole-genome phased haplotypes in biomedical applications
    NIH R41HG008118Mar 1, 2015 - Jan 31, 2017
    Role: Principal Investigator
    REGULATORY GENOMIC STUDIES IN A COHORT OF IPS CELL DERIVED CARDIOMYOCYTES
    NIH U01HL107442Jul 15, 2011 - Jun 30, 2017
    Role: Principal Investigator
    Biomarkers of Disease Progression in CLL
    NIH R21CA152613Jun 1, 2010 - May 31, 2012
    Role: Principal Investigator
    Large-Scale Low-Cost Genotyping for the Haplotype Map
    NIH U54HG003642Sep 20, 2004 - Aug 31, 2006
    Role: Principal Investigator
    Genetic Association in Austism Disorder
    NIH R43MH072249Aug 6, 2004 - Jul 31, 2005
    Role: Principal Investigator
    Evolutionary Conserved Sequences in the Human Genome
    NIH R44HG002638Sep 30, 2002 - Dec 31, 2005
    Role: Principal Investigator
    CONSERVED REGULATORY SEQUENCES IN HUMANS AND MICE
    NIH R01GM057482May 1, 1998 - Apr 30, 2003
    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. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. Am J Hum Genet. 2024 Aug 20. Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. PMID: 39191256.
      View in: PubMed   Mentions:    Fields:    
    2. High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer. Nat Commun. 2024 Jun 18; 15(1):5149. Schmidt TT, Tyer C, Rughani P, Haggblom C, Jones JR, Dai X, Frazer KA, Gage FH, Juul S, Hickey S, Karlseder J. PMID: 38890299; PMCID: PMC11189484.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    3. Recruitment of CTCF to the SIRT1 promoter after Oxidative Stress mediates Cardioprotective Transcription. bioRxiv. 2024 May 22. Wagner T, Priyanka P, Micheletti R, Friedman MJ, Nair SJ, Gamliel A, Taylor H, Song X, Cho M, Oh S, Li W, Han J, Ohgi KA, Abrass M, D'Antonio-Chronowska A, D'Antonio M, Hazuda H, Duggirala R, Blangero J, Ding S, Guzmann C, Frazer KA, Aggarwal AK, Zemljic-Harpf AE, Rosenfeld MG, Suh Y. PMID: 38798402; PMCID: PMC11118446.
      View in: PubMed   Mentions:
    4. IFN-γ activates an immune-like regulatory network in the cardiac vascular endothelium. bioRxiv. 2024 May 05. Arthur TD, Joshua IN, Nguyen JP, D'Antonio-Chronowska A, iPSCORE Consortium, Frazer KA, D'Antonio M. PMID: 38746472; PMCID: PMC11092750.
      View in: PubMed   Mentions:
    5. Multi-omic QTL mapping in early developmental tissues reveals phenotypic and temporal complexity of regulatory variants underlying GWAS loci. bioRxiv. 2024 Apr 11. Arthur TD, Nguyen JP, D'Antonio-Chronowska A, Jaureguy J, Silva N, Henson B, iPSCORE Consortium, Panopoulos AD, Belmonte JCI, D'Antonio M, McVicker G, Frazer KA. PMID: 38645112; PMCID: PMC11030419.
      View in: PubMed   Mentions:
    6. Complex regulatory networks influence pluripotent cell state transitions in human iPSCs. Nat Commun. 2024 Feb 23; 15(1):1664. Arthur TD, Nguyen JP, D'Antonio-Chronowska A, Matsui H, Silva NS, Joshua IN, iPSCORE Consortium, Luchessi AD, Greenwald WWY, D'Antonio M, Pera MF, Frazer KA. PMID: 38395976; PMCID: PMC10891157.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    7. eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk. Nat Commun. 2023 10 30; 14(1):6928. Nguyen JP, Arthur TD, Fujita K, Salgado BM, Donovan MKR, iPSCORE Consortium, Matsui H, Kim JH, D'Antonio-Chronowska A, D'Antonio M, Frazer KA. PMID: 37903777; PMCID: PMC10616100.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    8. Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development. Dev Cell. 2023 11 06; 58(21):2206-2216.e5. Jindal GA, Bantle AT, Solvason JJ, Grudzien JL, D'Antonio-Chronowska A, Lim F, Le SH, Song BP, Ragsac MF, Klie A, Larsen RO, Frazer KA, Farley EK. PMID: 37848026; PMCID: PMC10720985.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    9. Analysis of regulatory network modules in hundreds of human stem cell lines reveals complex epigenetic and genetic factors contribute to pluripotency state differences between subpopulations. bioRxiv. 2023 Sep 19. Arthur TD, Nguyen JP, D'Antonio-Chronowska A, Matsui H, Silva NS, Joshua IN, iPSCORE Consortium, Luchessi AD, Young Greenwald WW, D'Antonio M, Pera MF, Frazer KA. PMID: 37292794; PMCID: PMC10245835.
      View in: PubMed   Mentions:
    10. Author Correction: Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease. Nat Commun. 2023 Jul 20; 14(1):4370. D'Antonio M, Nguyen JP, Arthur TD, iPSCORE Consortium, Matsui H, D'Antonio-Chronowska A, Frazer KA. PMID: 37474502; PMCID: PMC10359269.
      View in: PubMed   Mentions:    Fields:    
    11. The human pangenome reference anticipates equitable and fundamental genomic insights. Cell Genom. 2023 Jul 12; 3(7):100360. Frazer KA, Schork NJ. PMID: 37492100; PMCID: PMC10363913.
      View in: PubMed   Mentions:    Fields:    
    12. Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease. Nat Commun. 2023 02 28; 14(1):1132. D'Antonio M, Nguyen JP, Arthur TD, iPSCORE Consortium, Matsui H, D'Antonio-Chronowska A, Frazer KA. PMID: 36854752; PMCID: PMC9975214.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines. Cell Genom. 2022 Dec 14; 2(12):100214. Benaglio P, Zhu H, Okino ML, Yan J, Elgamal R, Nariai N, Beebe E, Korgaonkar K, Qiu Y, Donovan MKR, Chiou J, Wang G, Newsome J, Kaur J, Miller M, Preissl S, Corban S, Aylward A, Taipale J, Ren B, Frazer KA, Sander M, Gaulton KJ. PMID: 36778047; PMCID: PMC9903835.
      View in: PubMed   Mentions: 5     Fields:    
    14. Systems genomics in age-related macular degeneration. Exp Eye Res. 2022 12; 225:109248. den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. PMID: 36108770; PMCID: PMC10150562.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    15. SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues. Cell Rep. 2022 Jun 14; 39(11):110968. D'Antonio M, Nguyen JP, Arthur TD, Matsui H, COVID-19 Host Genetics Initiative, D'Antonio-Chronowska A, Frazer KA. PMID: 35705058; PMCID: PMC9195561.
      View in: PubMed   Mentions:    Fields:    
    16. In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms. PLoS Comput Biol. 2022 02; 18(2):e1009918. D'Antonio M, Nguyen JP, Arthur TD, Matsui H, Donovan MKR, D'Antonio-Chronowska A, Frazer KA. PMID: 35226669; PMCID: PMC8912908.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    17. Ultra-Sharp Nanowire Arrays Natively Permeate, Record, and Stimulate Intracellular Activity in Neuronal and Cardiac Networks. Adv Funct Mater. 2022 Feb 16; 32(8). Liu R, Lee J, Tchoe Y, Pre D, Bourhis AM, D'Antonio-Chronowska A, Robin G, Lee SH, Ro YG, Vatsyayan R, Tonsfeldt KJ, Hossain LA, Phipps ML, Yoo J, Nogan J, Martinez JS, Frazer KA, Bang AG, Dayeh SA. PMID: 35603230; PMCID: PMC9122115.
      View in: PubMed   Mentions: 7  
    18. SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues. Cell Rep. 2021 11 16; 37(7):110020. D'Antonio M, Nguyen JP, Arthur TD, Matsui H, COVID-19 Host Genetics Initiative, D'Antonio-Chronowska A, Frazer KA. PMID: 34762851; PMCID: PMC8563343.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    19. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848. Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. PMID: 34662339; PMCID: PMC8589175.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    20. Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1. J Infect Dis. 2021 09 01; 224(5):870-880. Rawat P, Brummel SS, Singh KK, Kim J, Frazer KA, Nichols S, Seage GR, Williams PL, Van Dyke RB, Harismendy O, Trout RN, Spector SA. PMID: 33373444; PMCID: PMC8408770.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCellsPHPublic Health
    21. Enhancer release and retargeting activates disease-susceptibility genes. Nature. 2021 07; 595(7869):735-740. Oh S, Shao J, Mitra J, Xiong F, D'Antonio M, Wang R, Garcia-Bassets I, Ma Q, Zhu X, Lee JH, Nair SJ, Yang F, Ohgi K, Frazer KA, Zhang ZD, Li W, Rosenfeld MG. PMID: 34040254; PMCID: PMC11171441.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    22. Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity. medRxiv. 2021 May 12. D'Antonio M, COVID-19 Host Genetics Initiative, Arthur TD, Nguyen JP, Matsui H, D'Antonio-Chronowska A, Frazer KA. PMID: 34013287; PMCID: PMC8132261.
      View in: PubMed   Mentions:
    23. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 03; 53(3):313-321. Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE, HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. PMID: 33664507; PMCID: PMC7944648.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    24. Systematic analysis of binding of transcription factors to noncoding variants. Nature. 2021 03; 591(7848):147-151. Yan J, Qiu Y, Ribeiro Dos Santos AM, Yin Y, Li YE, Vinckier N, Nariai N, Benaglio P, Raman A, Li X, Fan S, Chiou J, Chen F, Frazer KA, Gaulton KJ, Sander M, Taipale J, Ren B. PMID: 33505025; PMCID: PMC9367673.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    25. Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model. Hum Mutat. 2021 02; 42(2):189-199. Biswas P, Borooah S, Matsui H, Voronchikhina M, Zhou J, Zawaydeh Q, Raghavendra PB, Ferreyra H, Riazuddin SA, Wahlin K, Frazer KA, Ayyagari R. PMID: 33252167; PMCID: PMC7878419.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    26. In vitro Differentiation of Human iPSC-derived Cardiovascular Progenitor Cells (iPSC-CVPCs). Bio Protoc. 2020 Sep 20; 10(18):e3755. D'Antonio-Chronowska A, D'Antonio M, Frazer KA. PMID: 33659414; PMCID: PMC7853936.
      View in: PubMed   Mentions: 4  
    27. Revealing Instability: Genetic Variation Underlies Variability in mESC Pluripotency. Cell Stem Cell. 2020 09 03; 27(3):347-349. D'Antonio M, D'Antonio-Chronowska A, Frazer KA. PMID: 32888420.
      View in: PubMed   Mentions:    Fields:    Translation:Cells
    28. Author Correction: Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. Nat Commun. 2020 09 01; 11(1):4426. Donovan MKR, D'Antonio-Chronowska A, D'Antonio M, Frazer KA. PMID: 32873812; PMCID: PMC7462847.
      View in: PubMed   Mentions:    Fields:    
    29. Properties of structural variants and short tandem repeats associated with gene expression and complex traits. Nat Commun. 2020 06 10; 11(1):2927. Jakubosky D, D'Antonio M, Bonder MJ, Smail C, Donovan MKR, Young Greenwald WW, Matsui H, i2QTL Consortium, D'Antonio-Chronowska A, Stegle O, Smith EN, Montgomery SB, DeBoever C, Frazer KA. PMID: 32522982; PMCID: PMC7286898.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    30. Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats. Nat Commun. 2020 06 10; 11(1):2928. Jakubosky D, Smith EN, D'Antonio M, Jan Bonder M, Young Greenwald WW, D'Antonio-Chronowska A, Matsui H, i2QTL Consortium, Stegle O, Montgomery SB, DeBoever C, Frazer KA. PMID: 32522985; PMCID: PMC7287045.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    31. Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. Stem Cell Res. 2020 07; 46:101803. Kanchan K, Iyer K, Yanek LR, Carcamo-Orive I, Taub MA, Malley C, Baldwin K, Becker LC, Broeckel U, Cheng L, Cowan C, D'Antonio M, Frazer KA, Quertermous T, Mostoslavsky G, Murphy G, Rabinovitch M, Rader DJ, Steinberg MH, Topol E, Yang W, Knowles JW, Jaquish CE, Ruczinski I, Mathias RA. PMID: 32442913; PMCID: PMC7575060.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    32. Author Correction: Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells. Nat Commun. 2020 04 20; 11(1):1958. Koga T, Chaim IA, Benitez JA, Markmiller S, Parisian AD, Hevner RF, Turner KM, Hessenauer FM, D'Antonio M, Nguyen ND, Saberi S, Ma J, Miki S, Boyer AD, Ravits J, Frazer KA, Bafna V, Chen CC, Mischel PS, Yeo GW, Furnari FB. PMID: 32312984; PMCID: PMC7171109.
      View in: PubMed   Mentions: 1     Fields:    
    33. Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. Nat Commun. 2020 02 19; 11(1):955. Donovan MKR, D'Antonio-Chronowska A, D'Antonio M, Frazer KA. PMID: 32075962; PMCID: PMC7031340.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    34. Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells. Nat Commun. 2020 Jan 28; 11(1):550. Koga T, Chaim IA, Benitez JA, Markmiller S, Parisian AD, Hevner RF, Turner KM, Hessenauer FM, D'Antonio M, Nguyen ND, Saberi S, Ma J, Miki S, Boyer AD, Ravits J, Frazer KA, Bafna V, Chen CC, Mischel PS, Yeo GW, Furnari FB. PMID: 31992716; PMCID: PMC6987220.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    35. In vitro Differentiation of Human iPSC-derived Retinal Pigment Epithelium Cells (iPSC-RPE). Bio Protoc. 2019 Dec 20; 9(24):e3469. D'Antonio-Chronowska A, D'Antonio M, Frazer KA. PMID: 33654959; PMCID: PMC7853967.
      View in: PubMed   Mentions: 7  
    36. Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. Elife. 2019 11 20; 8. D'Antonio M, Reyna J, Jakubosky D, Donovan MK, Bonder MJ, Matsui H, Stegle O, Nariai N, D'Antonio-Chronowska A, Frazer KA. PMID: 31746734; PMCID: PMC6904215.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    37. Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. Blood. 2019 11 07; 134(19):1645-1657. Lindström S, Wang L, Smith EN, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, Chasman DI, Suchon P, Chen MH, Turman C, Germain M, Wiggins KL, MacDonald J, Braekkan SK, Armasu SM, Pankratz N, Jackson RD, Nielsen JB, Giulianini F, Puurunen MK, Ibrahim M, Heckbert SR, Damrauer SM, Natarajan P, Klarin D, Million Veteran Program, de Vries PS, Sabater-Lleal M, Huffman JE, CHARGE Hemostasis Working Group, Bammler TK, Frazer KA, McCauley BM, Taylor K, Pankow JS, Reiner AP, Gabrielsen ME, Deleuze JF, O'Donnell CJ, Kim J, McKnight B, Kraft P, Hansen JB, Rosendaal FR, Heit JA, Psaty BM, Tang W, Kooperberg C, Hveem K, Ridker PM, Morange PE, Johnson AD, Kabrhel C, Trégouët DA, Smith NL. PMID: 31420334; PMCID: PMC6871304.
      View in: PubMed   Mentions: 94     Fields:    Translation:Humans
    38. A Network of microRNAs Acts to Promote Cell Cycle Exit and Differentiation of Human Pancreatic Endocrine Cells. iScience. 2019 Nov 22; 21:681-694. Jin W, Mulas F, Gaertner B, Sui Y, Wang J, Matta I, Zeng C, Vinckier N, Wang A, Nguyen-Ngoc KV, Chiou J, Kaestner KH, Frazer KA, Carrano AC, Shih HP, Sander M. PMID: 31733514; PMCID: PMC6889369.
      View in: PubMed   Mentions: 15  
    39. Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories. Stem Cell Reports. 2019 11 12; 13(5):924-938. D'Antonio-Chronowska A, Donovan MKR, Young Greenwald WW, Nguyen JP, Fujita K, Hashem S, Matsui H, Soncin F, Parast M, Ward MC, Coulet F, Smith EN, Adler E, D'Antonio M, Frazer KA. PMID: 31668852; PMCID: PMC6895695.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    40. Fibrinogen gamma gene rs2066865 and risk of cancer-related venous thromboembolism. Haematologica. 2020 07; 105(7):1963-1968. Paulsen B, Skille H, Smith EN, Hveem K, Gabrielsen ME, Brækkan SK, Rosendaal FR, Frazer KA, Gran OV, Hansen JB. PMID: 31582554; PMCID: PMC7327659.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    41. Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. Nat Genet. 2019 10; 51(10):1506-1517. Benaglio P, D'Antonio-Chronowska A, Ma W, Yang F, Young Greenwald WW, Donovan MKR, DeBoever C, Li H, Drees F, Singhal S, Matsui H, van Setten J, Sotoodehnia N, Gaulton KJ, Smith EN, D'Antonio M, Rosenfeld MG, Frazer KA. PMID: 31570892; PMCID: PMC6858543.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    42. Mutations in topoisomerase IIβ result in a B cell immunodeficiency. Nat Commun. 2019 08 13; 10(1):3644. Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hügle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM. PMID: 31409799; PMCID: PMC6692411.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    43. Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci. Stem Cell Reports. 2019 06 11; 12(6):1342-1353. Smith EN, D'Antonio-Chronowska A, Greenwald WW, Borja V, Aguiar LR, Pogue R, Matsui H, Benaglio P, Borooah S, D'Antonio M, Ayyagari R, Frazer KA. PMID: 31080113; PMCID: PMC6565613.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    44. Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk. Nat Commun. 2019 05 07; 10(1):2078. Greenwald WW, Chiou J, Yan J, Qiu Y, Dai N, Wang A, Nariai N, Aylward A, Han JY, Kadakia N, Regue L, Okino ML, Drees F, Kramer D, Vinckier N, Minichiello L, Gorkin D, Avruch J, Frazer KA, Sander M, Ren B, Gaulton KJ. PMID: 31064983; PMCID: PMC6505525.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansAnimalsCells
    45. Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia. Blood. 2019 06 20; 133(25):2651-2663. Ghia EM, Rassenti LZ, Neuberg DS, Blanco A, Yousif F, Smith EN, McPherson JD, Hudson TJ, HALT Pan-Leukemia Gene Panel Consortium, Harismendy O, Frazer KA, Kipps TJ. PMID: 30923040; PMCID: PMC6587306.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    46. Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke. The Tromsø Study. J Thromb Haemost. 2019 05; 17(5):749-758. Rinde LB, Morelli VM, Småbrekke B, Mathiesen EB, Løchen ML, Njølstad I, Wilsgaard T, Smith E, Rosendaal FR, Frazer KA, Braekkan SK, Hansen JB. PMID: 30773804.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    47. Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression. Nat Commun. 2019 03 05; 10(1):1054. Greenwald WW, Li H, Benaglio P, Jakubosky D, Matsui H, Schmitt A, Selvaraj S, D'Antonio M, D'Antonio-Chronowska A, Smith EN, Frazer KA. PMID: 30837461; PMCID: PMC6401380.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
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    152. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science. 2001 Nov 23; 294(5547):1719-23. Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, Kautzer CR, Lee DH, Marjoribanks C, McDonough DP, Nguyen BT, Norris MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SP, Cox DR. PMID: 11721056.
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    153. Evolutionarily conserved sequences on human chromosome 21. Genome Res. 2001 Oct; 11(10):1651-9. Frazer KA, Sheehan JB, Stokowski RP, Chen X, Hosseini R, Cheng JF, Fodor SP, Cox DR, Patil N. PMID: 11591642; PMCID: PMC311124.
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    154. VISTA : visualizing global DNA sequence alignments of arbitrary length. Bioinformatics. 2000 Nov; 16(11):1046-7. Mayor C, Brudno M, Schwartz JR, Poliakov A, Rubin EM, Frazer KA, Pachter LS, Dubchak I. PMID: 11159318.
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    155. Active conservation of noncoding sequences revealed by three-way species comparisons. Genome Res. 2000 Sep; 10(9):1304-6. Dubchak I, Brudno M, Loots GG, Pachter L, Mayor C, Rubin EM, Frazer KA. PMID: 10984448; PMCID: PMC310906.
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    156. Database searches for binding sites. Science. 2000 Jun 30; 288(5475):2319a. Murphy K, Frazer KA, Loots G, Rubin EM. PMID: 17769838.
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    157. Faithful expression of the human 5q31 cytokine cluster in transgenic mice. J Immunol. 2000 May 01; 164(9):4569-74. Lacy DA, Wang ZE, Symula DJ, McArthur CJ, Rubin EM, Frazer KA, Locksley RM. PMID: 10779759.
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    158. Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science. 2000 Apr 07; 288(5463):136-40. Loots GG, Locksley RM, Blankespoor CM, Wang ZE, Miller W, Rubin EM, Frazer KA. PMID: 10753117.
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    159. PipMaker--a web server for aligning two genomic DNA sequences. Genome Res. 2000 Apr; 10(4):577-86. Schwartz S, Zhang Z, Frazer KA, Smit A, Riemer C, Bouck J, Gibbs R, Hardison R, Miller W. PMID: 10779500; PMCID: PMC310868.
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    160. Genomic interval engineering of mice identifies a novel modulator of triglyceride production. Proc Natl Acad Sci U S A. 2000 Feb 01; 97(3):1137-42. Zhu Y, Jong MC, Frazer KA, Gong E, Krauss RM, Cheng JF, Boffelli D, Rubin EM. PMID: 10655497; PMCID: PMC15548.
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    161. Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor kinesin II in vertebrate retina. Exp Eye Res. 1999 Nov; 69(5):491-503. Whitehead JL, Wang SY, Bost-Usinger L, Hoang E, Frazer KA, Burnside B. PMID: 10548469.
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    162. Functional screening of an asthma QTL in YAC transgenic mice. Nat Genet. 1999 Oct; 23(2):241-4. Symula DJ, Frazer KA, Ueda Y, Denefle P, Stevens ME, Wang ZE, Locksley R, Rubin EM. PMID: 10508526.
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    163. Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region. Genome Res. 1997 May; 7(5):495-512. Frazer KA, Ueda Y, Zhu Y, Gifford VR, Garofalo MR, Mohandas N, Martin CH, Palazzolo MJ, Cheng JF, Rubin EM. PMID: 9149945.
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    164. The apolipoprotein(a) gene is regulated by sex hormones and acute-phase inducers in YAC transgenic mice. Nat Genet. 1995 Apr; 9(4):424-31. Frazer KA, Narla G, Zhang JL, Rubin EM. PMID: 7795650.
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    165. Controlling the caloric labyrinthine stimulus: restoring surface temperature. Laryngoscope. 1993 Jun; 103(6):679-82. Proctor L, Frazer K, Thakor R. PMID: 8502103.
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    166. A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus. Genomics. 1992 Nov; 14(3):574-84. Frazer KA, Boehnke M, Budarf ML, Wolff RK, Emanuel BS, Myers RM, Cox DR. PMID: 1427886.
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    167. Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am J Hum Genet. 1992 Sep; 51(3):478-85. Wolff RK, Frazer KA, Jackler RK, Lanser MJ, Pitts LH, Cox DR. PMID: 1496981; PMCID: PMC1682717.
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    168. Epidemiology, pathogenesis, and genetics of acoustic tumors. Otolaryngol Clin North Am. 1992 Jun; 25(3):499-520. Lanser MJ, Sussman SA, Frazer K. PMID: 1625863.
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    169. A novel and rapid method for isolating sequences adjacent to rare cutting sites and their use in physical mapping. Nucleic Acids Res. 1991 Aug 25; 19(16):4371-5. Patel K, Cox R, Shipley J, Kiely F, Frazer K, Cox DR, Lehrach H, Sheer D. PMID: 1886764; PMCID: PMC328622.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    170. Isolation and characterization of a laminin-binding protein from rat and chick muscle. J Cell Biol. 1988 Aug; 107(2):687-97. Hall DE, Frazer KA, Hann BC, Reichardt LF. PMID: 3417768; PMCID: PMC2115226.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells