David Blair, MD, PhD

Photo of David Blair, MD, PhD
Title(s)Assistant Adjunct Professor, Office of the CEO
SchoolChancellor/EVC/FAS
Address550 16th Street, #001
San Francisco 94158
PronounsHe/Him/His
ORCID ORCID Icon0000-0002-7455-6488 Additional info
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    Collapse Overview 
    Collapse overview
    David Blair, MD PhD is a pediatrician, clinical geneticist, and physician scientist. His research uses population-scale datasets and statistical modeling to analyze the phenotypic diversity observed among patients with rare, genetic disorders. The goal of this work is to reduce diagnostic uncertainty, improve disease-related surveillance, and alter management practices.

    Collapse Biography 
    Collapse education and training
    University of Michigan, Ann Arbor, MIBS04/2008Molecular, Cell, and Developmental Biology
    University of Chicago, Chicago, ILPhD08/2014Genetics, Genomics, and Systems Biology
    University of Chicago, Chicago, ILMD06/2017
    UCSF, San Francisco, CA06/2020Pediatrics
    UCSF, San Francisco, CA06/2022Medical Genetics and Genomics
    Collapse awards and honors
    American Society of Human Genetics2020Charles J. Epstein Trainee Award for Excellence in Human Genetics Research

    Collapse Research 
    Collapse research activities and funding
    Investigating the Genotype-Phenotype Relationships that Underlie Congenital Disorders with Cardiovascular Symptoms through Population-scale Analyses
    NHLBI K38HL164956-01Aug 1, 2023 - Jul 31, 2024
    Role: Principal Investigator
    Investigating the Phenotypic Variability of Collagen Type IV Vascular Disease Using Population-scale Data
    American Heart Association 23CDA1045330Apr 1, 2023 - Mar 31, 2026
    Role: Principal Investigator
    Resolving Diagnostic Uncertainty in Marfan Syndrome Using Real-World Clinical Data
    George Banks and Sarah Ellen Huntington Memorial Fund UCSF REACJan 1, 2023 - Dec 31, 2023
    Role: Principal Investigator
    Collapse Clinical Trials

    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. FNIP1 variants are associated with favourable metabolism in 1 million humans. Nature. 2026 Aug 05. Hindy G, Adam RC, Sosina O, Pryce D, Blair D, Herman J, Lee J, Dornbos P, Mayerhofer E, Gilly A, Hunt C, Geraghty B, Landheer K, Ganel L, Baldassari A, Zhang C, Mintah I, Sun D, Coppola A, Brown K, Nguyen T, Xia X, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Penn Medicine Biobank, Colorado Center for Personalized Medicine, Mayo Clinic-RGC Project Generation, Mexico City Prospective Study, Malmö Diet and Cancer Study, Indiana University School of Medicine (Indiana-CLDB), UCLA-RGC ATLAS Collaboration, Mount Sinai Million Health Discoveries Program, UTSW-Dallas Biobank, South Asia Biobank Study, Rader DJ, Melander O, Still CD, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Tapia-Conyer R, Balasubramanian S, Jones MB, LeBlanc MG, Murphy AJ, Kyratsous CA, Overton JD, Reid JG, Abecasis GR, Marchini J, Willer C, Yancopoulos GD, Sleeman MW, Bovijn J, Locke A, Baras A, Verweij N, Gusarova V, Lotta LA. PMID: 42557317.
      View in: PubMed   Mentions:    Fields:    
    2. Serum β-hCG Combined with Traditional Tumor Markers Improves Detection Efficacy and Prognostic Prediction in Cholangiocarcinoma. Int J Mol Sci. 2026 Jun 16; 27(12). Kongsintaweesuk S, Pongking T, Tunbenjasiri K, Tanasuka P, Roytrakul S, Onsurathum S, Pairojkul C, Intuyod K, Luvira V, Pinlaor S, Blair D, Pinlaor P. PMID: 42353153; PMCID: PMC13299596.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. System-level multi-omics uncover proteomic, peptidomic, and metabolic remodeling in Microcystin-LR exacerbated chronic kidney disease. Ecotoxicol Environ Saf. 2026 Jun 01; 317:120211. Kongsintaweesuk S, Intuyod K, Roytrakul S, Seubwai W, Sangkhamanon S, Charoenlappanit S, Cha'on U, Surapinit A, Thongpon P, Tanasuka P, Chomwong S, Blair D, Pinlaor S, Pinlaor P. PMID: 42085738.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    4. Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks. Am J Hum Genet. 2025 12 04; 112(12):2922-2942. Blair DR, Risch N. PMID: 41289998; PMCID: PMC12808968.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Minimally invasive detection of early-stage opisthorchiasis-associated cholangiocarcinoma using label-free surface-enhanced Raman spectroscopy (SERS) of hamster serum. PLoS One. 2025; 20(10):e0334916. Chaidee A, Kongsintaweesuk S, Pongking T, Tunbenjasiri K, Mon AM, Pairojkul C, Tanasuka P, Plengsuriyakarn T, Na-Bangchang K, Charoenram N, Blair D, Pinlaor S. PMID: 41144486; PMCID: PMC12558545.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    6. Microcystin-LR exacerbates chronic kidney disease in rats: insights into gut microbiome and host proteome dysregulation. Life Sci. 2025 Oct 01; 378:123840. Kongsintaweesuk S, Tunbenjasiri K, Pongking T, Roytrakul S, Charoenlappanit S, Anutrakulchai S, Pairojkul C, Intuyod K, Tanasuka P, Blair D, Pinlaor S, Pinlaor P. PMID: 40618920.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    7. One Health integrated strategies for sustainable control of Opisthorchis viverrini infections in rural endemic areas of Thailand. Infect Dis Poverty. 2025 Jun 03; 14(1):42. Prakobwong S, Charoensuk L, Chaipibool S, Chedtabud K, Laothong U, Suwannatrai AT, Blair D, Pinlaor S. PMID: 40462174; PMCID: PMC12131461.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsPHPublic Health
    8. Reduced Penetrance is Common Among Predicted Loss-of-Function Variants and is Likely Driven by Residual Allelic Activity. medRxiv. 2025 Mar 20. Blair DR, Risch N. PMID: 39399029; PMCID: PMC11469360.
      View in: PubMed   Mentions:
    9. KCNK4-related channelopathy causing a neurodevelopmental syndrome. BMJ Case Rep. 2023 11 06; 16(11). Garg R, Sullivan J, Blair D, Wallerstein R. PMID: 37931962; PMCID: PMC10632805.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    10. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genet. 2023 10; 44(5):486-490. Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG. PMID: 36420660; PMCID: PMC10205914.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    11. Current and new therapies for mucopolysaccharidoses. Pediatr Neonatol. 2023 02; 64 Suppl 1:S10-S17. Penon-Portmann M, Blair DR, Harmatz P. PMID: 36464587.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    12. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Am J Med Genet A. 2022 09; 188(9):2724-2731. Galarreta CI, Kennedy C, Blair DR, Slavotinek A. PMID: 35770347.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nat Commun. 2022 06 27; 13(1):3675. Blair DR, Hoffmann TJ, Shieh JT. PMID: 35760791; PMCID: PMC9237040.
      View in: PubMed   Mentions: 11     Fields:    
    14. Individual Prey Specialization Drives PCBs in Icelandic Killer Whales. Environ Sci Technol. 2021 04 20; 55(8):4923-4931. Remili A, Letcher RJ, Samarra FIP, Dietz R, Sonne C, Desforges JP, Víkingsson G, Blair D, McKinney MA. PMID: 33760582.
      View in: PubMed   Mentions: 4     Fields:    Translation:AnimalsPHPublic Health
    15. Allosteric Priming of E. coli CheY by the Flagellar Motor Protein FliM. Biophys J. 2020 09 15; 119(6):1108-1122. Wheatley P, Gupta S, Pandini A, Chen Y, Petzold CJ, Ralston CY, Blair DF, Khan S. PMID: 32891187; PMCID: PMC7499101.
      View in: PubMed   Mentions: 7     Fields:    Translation:Cells
    16. Human Embryonic Expression Identifies Novel Essential Gene Candidates. bioRxiv. 2020. Penon-Portmann M, Chang J, Blair DR, Rodriguez-Alonso B, Cakmak H, Rajkovic A, Shieh JT. View Publication.
    17. Comparative genomics and transcriptomics of 4 Paragonimus species provide insights into lung fluke parasitism and pathogenesis. Gigascience. 2020 07 01; 9(7). Rosa BA, Choi YJ, McNulty SN, Jung H, Martin J, Agatsuma T, Sugiyama H, Le TH, Doanh PN, Maleewong W, Blair D, Brindley PJ, Fischer PU, Mitreva M. PMID: 32687148; PMCID: PMC7370270.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    18. Adaptive Radiation of the Flukes of the Family Fasciolidae Inferred from Genome-Wide Comparisons of Key Species. Mol Biol Evol. 2020 Jan 01; 37(1):84-99. Choi YJ, Fontenla S, Fischer PU, Le TH, Costábile A, Blair D, Brindley PJ, Tort JF, Cabada MM, Mitreva M. PMID: 31501870; PMCID: PMC7528651.
      View in: PubMed   Mentions: 25     Fields:    Translation:Animals
    19. Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Nat Commun. 2019 12 03; 10(1):5508. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahlén T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A. PMID: 31796735; PMCID: PMC6890770.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    20. First Demonstration of Electrostatic Damping of Parametric Instability at Advanced LIGO. Phys Rev Lett. 2017 Apr 14; 118(15):151102. Blair C, Gras S, Abbott R, Aston S, Betzwieser J, Blair D, DeRosa R, Evans M, Frolov V, Fritschel P, Grote H, Hardwick T, Liu J, Lormand M, Miller J, Mullavey A, O'Reilly B, Zhao C, Abbott BP, Abbott TD, Adams C, Adhikari RX, Anderson SB, Ananyeva A, Appert S, Arai K, Ballmer SW, Barker D, Barr B, Barsotti L, Bartlett J, Bartos I, Batch JC, Bell AS, Billingsley G, Birch J, Biscans S, Biwer C, Bork R, Brooks AF, Ciani G, Clara F, Countryman ST, Cowart MJ, Coyne DC, Cumming A, Cunningham L, Danzmann K, Da Silva Costa CF, Daw EJ, DeBra D, DeSalvo R, Dooley KL, Doravari S, Driggers JC, Dwyer SE, Effler A, Etzel T, Evans TM, Factourovich M, Fair H, Fernández Galiana A, Fisher RP, Fulda P, Fyffe M, Giaime JA, Giardina KD, Goetz E, Goetz R, Gray C, Gushwa KE, Gustafson EK, Gustafson R, Hall ED, Hammond G, Hanks J, Hanson J, Harry GM, Heintze MC, Heptonstall AW, Hough J, Izumi K, Jones R, Kandhasamy S, Karki S, Kasprzack M, Kaufer S, Kawabe K, Kijbunchoo N, King EJ, King PJ, Kissel JS, Korth WZ, Kuehn G, Landry M, Lantz B, Lockerbie NA, Lundgren AP, MacInnis M, Macleod DM, Márka S, Márka Z, Markosyan AS, Maros E, Martin IW, Martynov DV, Mason K, Massinger TJ, Matichard F, Mavalvala N, McCarthy R, McClelland DE, McCormick S, McIntyre G, McIver J, Mendell G, Merilh EL, Meyers PM, Mittleman R, Moreno G, Mueller G, Munch J, Nuttall LK, Oberling J, Oppermann P, Oram RJ, Ottaway DJ, Overmier H, Palamos JR, Paris HR, Parker W, Pele A, Penn S, Phelps M, Pierro V, Pinto I, Principe M, Prokhorov LG, Puncken O, Quetschke V, Quintero EA, Raab FJ, Radkins H, Raffai P, Reid S, Reitze DH, Robertson NA, Rollins JG, Roma VJ, Romie JH, Rowan S, Ryan K, Sadecki T, Sanchez EJ, Sandberg V, Savage RL, Schofield RMS, Sellers D, Shaddock DA, Shaffer TJ, Shapiro B, Shawhan P, Shoemaker DH, Sigg D, Slagmolen BJJ, Smith B, Smith JR, Sorazu B, Staley A, Strain KA, Tanner DB, Taylor R, Thomas M, Thomas P, Thorne KA, Thrane E, Torrie CI, Traylor G, Vajente G, Valdes G, van Veggel AA, Vecchio A, Veitch PJ, Venkateswara K, Vo T, Vorvick C, Walker M, Ward RL, Warner J, Weaver B, Weiss R, Weßels P, Willke B, Wipf CC, Worden J, Wu G, Yamamoto H, Yancey CC, Yu H, Yu H, Zhang L, Zucker ME, Zweizig J, LSC Instrument Authors. PMID: 28452534.
      View in: PubMed   Mentions:    Fields:    
    21. Preliminary genetic evidence of two different populations of Opisthorchis viverrini in Lao PDR. Parasitol Res. 2017 Apr; 116(4):1247-1256. Pitaksakulrat O, Kiatsopit N, Laoprom N, Webster BL, Webster JP, Lamberton PHL, Laha T, Andrews RH, Petney TN, Blair D, Carlton EJ, Spear RC, Sithithaworn P. PMID: 28238124; PMCID: PMC5756626.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    22. Technical Challenges and Opportunities when Implementing Pharmacogenomics Decision Support Integrated in the Electronic Health Record. Stud Health Technol Inform. 2017; 245:1255. Caraballo PJ, Sutton JA, Moyer AM, Blair D, Hines LC, Rao PS, Adams MF, Murthy S, Garza T, Karow ME, Singh H, Giri J, Gabrielson DB, Sauver JS, Bielinski SJ, Parkulo MA. PMID: 29295340.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    23. Quantifying the impact and extent of undocumented biomedical synonymy. PLoS Comput Biol. 2014 Sep; 10(9):e1003799. Blair DR, Wang K, Nestorov S, Evans JA, Rzhetsky A. PMID: 25255227; PMCID: PMC4177665.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    24. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell. 2013 Sep 26; 155(1):70-80. Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A. PMID: 24074861; PMCID: PMC3844554.
      View in: PubMed   Mentions: 141     Fields:    Translation:Humans
    25. A myosin II ATPase inhibitor reduces force production, glucose transport, and phosphorylation of AMPK and TBC1D1 in electrically stimulated rat skeletal muscle. Am J Physiol Endocrinol Metab. 2009 May; 296(5):E993-E1002. Blair DR, Funai K, Schweitzer GG, Cartee GD. PMID: 19190254; PMCID: PMC2681314.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
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