Steven Gazal

Title(s)Assistant Professor of Population and Public Health Sciences
SchoolKeck School of Medicine of Usc
Address1450 Biggy Street
Health Sciences Campus
Los Angeles CA 90033
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    Steven Gazal is an assistant professor at the Center for Genetic Epidemiology, in the Department of Population and Public Health Sciences at USC Keck School of Medicine. His research focuses on developing and applying statistical methods to understand the genetic basis of human diseases, with expertise in combining population genetics, genetic epidemiology and functional genomics approaches. Prior to his position at Center for Genetic Epidemiology, Steven was a postdoc and a research associate at the Harvard School of Public Health and in the Program in Medical and Population Genetics at the Broad Institute in the group of Alkes Price. Steven obtained his Ph.D. at the Fondation Jean Dausset CEPH, under the guidance of Anne-Louise Leutenegger and Emmanuelle Génin, while working as a statistical geneticist in Paris Hospitals. His current lab website can be found at https://gazal-lab.org.

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    From common to rare variant functional architectures of human diseases
    NIH R00HG010160Aug 12, 2020 - May 31, 2023
    Role: Principal Investigator
    From common to rare variant functional architectures of human diseases
    NIH K99HG010160Sep 7, 2018 - Jun 30, 2020
    Role: Principal Investigator

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    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. SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease. Cell Genom. 2022 Jul 13; 2(7). Dey KK, Gazal S, van de Geijn B, Kim SS, Nasser J, Engreitz JM, Price AL. PMID: 35873673; PMCID: PMC9306342.
      View in: PubMed   Mentions:
    2. Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity. Nat Genet. 2022 06; 54(6):827-836. Gazal S, Weissbrod O, Hormozdiari F, Dey KK, Nasser J, Jagadeesh KA, Weiner DJ, Shi H, Fulco CP, O'Connor LJ, Pasaniuc B, Engreitz JM, Price AL. PMID: 35668300.
      View in: PubMed   Mentions: 1     Fields:    
    3. Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores. Nat Genet. 2022 04; 54(4):450-458. Weissbrod O, Kanai M, Shi H, Gazal S, Peyrot WJ, Khera AV, Okada Y, Biobank Japan Project, Martin AR, Finucane HK, Price AL. PMID: 35393596; PMCID: PMC9009299.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    4. Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes. Am J Hum Genet. 2022 04 07; 109(4):692-709. Burch KS, Hou K, Ding Y, Wang Y, Gazal S, Shi H, Pasaniuc B. PMID: 35271803; PMCID: PMC9069080.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Partitioning gene-mediated disease heritability without eQTLs. Am J Hum Genet. 2022 03 03; 109(3):405-416. Weiner DJ, Gazal S, Robinson EB, O'Connor LJ. PMID: 35143757; PMCID: PMC8948166.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics. bioRxiv. 2021 Nov 23. Jagadeesh KA, Dey KK, Montoro DT, Mohan R, Gazal S, Engreitz JM, Xavier RJ, Price AL, Regev A. PMID: 34845454; PMCID: PMC8629197.
      View in: PubMed   Mentions:
    7. Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets. Nat Commun. 2021 10 18; 12(1):6052. Márquez-Luna C, Gazal S, Loh PR, Kim SS, Furlotte N, Auton A, 23andMe Research Team, Price AL. PMID: 34663819; PMCID: PMC8523709.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    8. An integrated approach to identify environmental modulators of genetic risk factors for complex traits. Am J Hum Genet. 2021 10 07; 108(10):1866-1879. Balliu B, Carcamo-Orive I, Gloudemans MJ, Nachun DC, Durrant MG, Gazal S, Park CY, Knowles DA, Wabitsch M, Quertermous T, Knowles JW, Montgomery SB. PMID: 34582792; PMCID: PMC8546041.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations. Hum Mol Genet. 2021 07 28; 30(16):1521-1534. Luo Y, Li X, Wang X, Gazal S, Mercader JM, 23 and Me Research Team, SIGMA Type 2 Diabetes Consortium, Neale BM, Florez JC, Auton A, Price AL, Finucane HK, Raychaudhuri S. PMID: 33987664; PMCID: PMC8330913.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    10. COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets. Nature. 2021 07; 595(7865):107-113. Delorey TM, Ziegler CGK, Heimberg G, Normand R, Yang Y, Segerstolpe Å, Abbondanza D, Fleming SJ, Subramanian A, Montoro DT, Jagadeesh KA, Dey KK, Sen P, Slyper M, Pita-Juárez YH, Phillips D, Biermann J, Bloom-Ackermann Z, Barkas N, Ganna A, Gomez J, Melms JC, Katsyv I, Normandin E, Naderi P, Popov YV, Raju SS, Niezen S, Tsai LT, Siddle KJ, Sud M, Tran VM, Vellarikkal SK, Wang Y, Amir-Zilberstein L, Atri DS, Beechem J, Brook OR, Chen J, Divakar P, Dorceus P, Engreitz JM, Essene A, Fitzgerald DM, Fropf R, Gazal S, Gould J, Grzyb J, Harvey T, Hecht J, Hether T, Jané-Valbuena J, Leney-Greene M, Ma H, McCabe C, McLoughlin DE, Miller EM, Muus C, Niemi M, Padera R, Pan L, Pant D, Pe'er C, Pfiffner-Borges J, Pinto CJ, Plaisted J, Reeves J, Ross M, Rudy M, Rueckert EH, Siciliano M, Sturm A, Todres E, Waghray A, Warren S, Zhang S, Zollinger DR, Cosimi L, Gupta RM, Hacohen N, Hibshoosh H, Hide W, Price AL, Rajagopal J, Tata PR, Riedel S, Szabo G, Tickle TL, Ellinor PT, Hung D, Sabeti PC, Novak R, Rogers R, Ingber DE, Jiang ZG, Juric D, Babadi M, Farhi SL, Izar B, Stone JR, Vlachos IS, Solomon IH, Ashenberg O, Porter CBM, Li B, Shalek AK, Villani AC, Rozenblatt-Rosen O, Regev A. PMID: 33915569; PMCID: PMC8919505.
      View in: PubMed   Mentions: 104     Fields:    Translation:HumansCells
    11. A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2. bioRxiv. 2021 Feb 25. Delorey TM, Ziegler CGK, Heimberg G, Normand R, Yang Y, Segerstolpe A, Abbondanza D, Fleming SJ, Subramanian A, Montoro DT, Jagadeesh KA, Dey KK, Sen P, Slyper M, Pita-Juárez YH, Phillips D, Bloom-Ackerman Z, Barkas N, Ganna A, Gomez J, Normandin E, Naderi P, Popov YV, Raju SS, Niezen S, Tsai LT, Siddle KJ, Sud M, Tran VM, Vellarikkal SK, Amir-Zilberstein L, Atri DS, Beechem J, Brook OR, Chen J, Divakar P, Dorceus P, Engreitz JM, Essene A, Fitzgerald DM, Fropf R, Gazal S, Gould J, Grzyb J, Harvey T, Hecht J, Hether T, Jane-Valbuena J, Leney-Greene M, Ma H, McCabe C, McLoughlin DE, Miller EM, Muus C, Niemi M, Padera R, Pan L, Pant D, Pe'er C, Pfiffner-Borges J, Pinto CJ, Plaisted J, Reeves J, Ross M, Rudy M, Rueckert EH, Siciliano M, Sturm A, Todres E, Waghray A, Warren S, Zhang S, Zollinger DR, Cosimi L, Gupta RM, Hacohen N, Hide W, Price AL, Rajagopal J, Tata PR, Riedel S, Szabo G, Tickle TL, Hung D, Sabeti PC, Novak R, Rogers R, Ingber DE, Gordon Jiang Z, Juric D, Babadi M, Farhi SL, Stone JR, Vlachos IS, Solomon IH, Ashenberg O, Porter CBM, Li B, Shalek AK, Villani AC, Rozenblatt-Rosen O, Regev A. PMID: 33655247; PMCID: PMC7924267.
      View in: PubMed   Mentions: 4  
    12. Population-specific causal disease effect sizes in functionally important regions impacted by selection. Nat Commun. 2021 02 17; 12(1):1098. Shi H, Gazal S, Kanai M, Koch EM, Schoech AP, Siewert KM, Kim SS, Luo Y, Amariuta T, Huang H, Okada Y, Raychaudhuri S, Sunyaev SR, Price AL. PMID: 33597505; PMCID: PMC7889654.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    13. Methotrexate and rheumatoid arthritis associated interstitial lung disease. Eur Respir J. 2021 02; 57(2). Juge PA, Lee JS, Lau J, Kawano-Dourado L, Rojas Serrano J, Sebastiani M, Koduri G, Matteson E, Bonfiglioli K, Sawamura M, Kairalla R, Cavagna L, Bozzalla Cassione E, Manfredi A, Mejia M, Rodríguez-Henriquez P, González-Pérez MI, Falfán-Valencia R, Buendia-Roldán I, Pérez-Rubio G, Ebstein E, Gazal S, Borie R, Ottaviani S, Kannengiesser C, Wallaert B, Uzunhan Y, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Wemeau-Stervinou L, Flipo RM, Marchand-Adam S, Richette P, Allanore Y, Dromer C, Truchetet ME, Richez C, Schaeverbeke T, Lioté H, Thabut G, Deane KD, Solomon JJ, Doyle T, Ryu JH, Rosas I, Holers VM, Boileau C, Debray MP, Porcher R, Schwartz DA, Vassallo R, Crestani B, Dieudé P. PMID: 32646919; PMCID: PMC8212188.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    14. Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. Nat Commun. 2020 12 07; 11(1):6258. Kim SS, Dey KK, Weissbrod O, Márquez-Luna C, Gazal S, Price AL. PMID: 33288751; PMCID: PMC7721881.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    15. Functionally informed fine-mapping and polygenic localization of complex trait heritability. Nat Genet. 2020 12; 52(12):1355-1363. Weissbrod O, Hormozdiari F, Benner C, Cui R, Ulirsch J, Gazal S, Schoech AP, van de Geijn B, Reshef Y, Márquez-Luna C, O'Connor L, Pirinen M, Finucane HK, Price AL. PMID: 33199916; PMCID: PMC7710571.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    16. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet. 2020 07; 52(7):669-679. Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y. PMID: 32514122; PMCID: PMC7968075.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    17. Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability. Hum Mol Genet. 2020 05 08; 29(7):1057-1067. van de Geijn B, Finucane H, Gazal S, Hormozdiari F, Amariuta T, Liu X, Gusev A, Loh PR, Reshef Y, Kichaev G, Raychauduri S, Price AL. PMID: 31595288; PMCID: PMC7206853.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    18. Liability threshold modeling of case-control status and family history of disease increases association power. Nat Genet. 2020 05; 52(5):541-547. Hujoel MLA, Gazal S, Loh PR, Patterson N, Price AL. PMID: 32313248; PMCID: PMC7210076.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    19. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 Dec 05; 105(6):1302. Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL. PMID: 31809749; PMCID: PMC6904820.
      View in: PubMed   Mentions: 1     Fields:    
    20. Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank. J Allergy Clin Immunol. 2020 02; 145(2):537-549. Zhu Z, Guo Y, Shi H, Liu CL, Panganiban RA, Chung W, O'Connor LJ, Himes BE, Gazal S, Hasegawa K, Camargo CA, Qi L, Moffatt MF, Hu FB, Lu Q, Cookson WOC, Liang L. PMID: 31669095; PMCID: PMC7010560.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansAnimals
    21. Functional disease architectures reveal unique biological role of transposable elements. Nat Commun. 2019 09 06; 10(1):4054. Hormozdiari F, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJ, Connor LO, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL. PMID: 31492842; PMCID: PMC6731302.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    22. Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. Am J Hum Genet. 2019 09 05; 105(3):456-476. O'Connor LJ, Schoech AP, Hormozdiari F, Gazal S, Patterson N, Price AL. PMID: 31402091; PMCID: PMC6732528.
      View in: PubMed   Mentions: 41     Fields:    Translation:Humans
    23. Reconciling S-LDSC and LDAK functional enrichment estimates. Nat Genet. 2019 08; 51(8):1202-1204. Gazal S, Marquez-Luna C, Finucane HK, Price AL. PMID: 31285579; PMCID: PMC7006477.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    24. Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2019 Aug; 51(8):1295. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. PMID: 31273336.
      View in: PubMed   Mentions:    Fields:    
    25. The Genetic Architecture of Chronic Mountain Sickness in Peru. Front Genet. 2019; 10:690. Gazal S, Espinoza JR, Austerlitz F, Marchant D, Macarlupu JL, Rodriguez J, Ju-Preciado H, Rivera-Chira M, Hermine O, Leon-Velarde F, Villafuerte FC, Richalet JP, Gouya L. PMID: 31417607; PMCID: PMC6682665.
      View in: PubMed   Mentions: 7  
    26. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 05 02; 104(5):896-913. Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL. PMID: 31051114; PMCID: PMC6506868.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    27. IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors. Am J Hum Genet. 2019 05 02; 104(5):879-895. Amariuta T, Luo Y, Gazal S, Davenport EE, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K, RACI Consortium, GARNET Consortium, Price AL, Raychaudhuri S. PMID: 31006511; PMCID: PMC6506796.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    28. Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species. Am J Hum Genet. 2019 04 04; 104(4):611-624. Hujoel MLA, Gazal S, Hormozdiari F, van de Geijn B, Price AL. PMID: 30905396; PMCID: PMC6451699.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    29. Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. Nat Commun. 2019 02 15; 10(1):790. Schoech AP, Jordan DM, Loh PR, Gazal S, O'Connor LJ, Balick DJ, Palamara PF, Finucane HK, Sunyaev SR, Price AL. PMID: 30770844; PMCID: PMC6377669.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    30. Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Am J Hum Genet. 2019 01 03; 104(1):65-75. Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL. PMID: 30595370; PMCID: PMC6323418.
      View in: PubMed   Mentions: 274     Fields:    Translation:Humans
    31. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. N Engl J Med. 2018 12 06; 379(23):2209-2219. Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P. PMID: 30345907; PMCID: PMC6371965.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansCells
    32. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018 11; 50(11):1600-1607. Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL. PMID: 30297966; PMCID: PMC6236676.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    33. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. Nat Genet. 2018 10; 50(10):1483-1493. Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O'Connor L, van de Geijn B, Loh PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL. PMID: 30177862; PMCID: PMC6202062.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    34. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet. 2018 12; 26(12):1759-1772. Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C. PMID: 30087447; PMCID: PMC6244213.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    35. Mixed-model association for biobank-scale datasets. Nat Genet. 2018 07; 50(7):906-908. Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. PMID: 29892013; PMCID: PMC6309610.
      View in: PubMed   Mentions: 193     Fields:    Translation:Humans
    36. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. Nat Genet. 2018 07; 50(7):1041-1047. Hormozdiari F, Gazal S, van de Geijn B, Finucane HK, Ju CJ, Loh PR, Schoech A, Reshef Y, Liu X, O'Connor L, Gusev A, Eskin E, Price AL. PMID: 29942083; PMCID: PMC6030458.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    37. Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits. Nat Genet. 2018 05; 50(5):737-745. Evans LM, Tahmasbi R, Vrieze SI, Abecasis GR, Das S, Gazal S, Bjelland DW, de Candia TR, Haplotype Reference Consortium, Goddard ME, Neale BM, Yang J, Visscher PM, Keller MC. PMID: 29700474; PMCID: PMC5934350.
      View in: PubMed   Mentions: 84     Fields:    Translation:Humans
    38. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018 04; 50(4):621-629. Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh PR, Lareau C, Shoresh N, Genovese G, Saunders A, Macosko E, Pollack S, Brainstorm Consortium, Perry JRB, Buenrostro JD, Bernstein BE, Raychaudhuri S, McCarroll S, Neale BM, Price AL. PMID: 29632380; PMCID: PMC5896795.
      View in: PubMed   Mentions: 281     Fields:    Translation:HumansCells
    39. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Genes Chromosomes Cancer. 2018 Jun; 57(6):294-303. Benfodda M, Gazal S, Descamps V, Basset-Seguin N, Deschamps L, Thomas L, Lebbe C, Saiag P, Zanetti R, Sacchetto L, Chiorino G, Scatolini M, Grandchamp B, Bensussan A, Soufir N. PMID: 29359367.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    40. Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis. RMD Open. 2017; 3(2):e000448. Juge PA, Gazal S, Constantin A, Mariette X, Combe B, Tebib J, Dougados M, Sibilia J, Le Loet X, Dieudé P. PMID: 29071117; PMCID: PMC5640092.
      View in: PubMed   Mentions: 7  
    41. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2017 Oct; 49(10):1421-1427. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. PMID: 28892061; PMCID: PMC6133304.
      View in: PubMed   Mentions: 125     Fields:    Translation:Humans
    42. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Eur Respir J. 2017 05; 49(5). Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S, FREX consortium, Boileau C, Crestani B, Dieudé P. PMID: 28495692.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    43. Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues. Am J Hum Genet. 2017 Apr 06; 100(4):605-616. Liu X, Finucane HK, Gusev A, Bhatia G, Gazal S, O'Connor L, Bulik-Sullivan B, Wright FA, Sullivan PF, Neale BM, Price AL. PMID: 28343628; PMCID: PMC5384099.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    44. High level of inbreeding in final phase of 1000 Genomes Project. Sci Rep. 2015 Dec 02; 5:17453. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. PMID: 26625947; PMCID: PMC4667178.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    45. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015 Nov; 47(11):1334-40. Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, Galambrun C, Picard C, Petit A, Contet A, Poirée M, Sirvent N, Méchinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, Häussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cavé H. PMID: 26457648.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    46. Relationship inference from the genetic data on parents or offspring: A comparative study. Theor Popul Biol. 2016 Feb; 107:31-8. Gazal S, Génin E, Leutenegger AL. PMID: 26431644.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    47. Can whole-exome sequencing data be used for linkage analysis? Eur J Hum Genet. 2016 Apr; 24(4):581-6. Gazal S, Gosset S, Verdura E, Bergametti F, Guey S, Babron MC, Tournier-Lasserve E. PMID: 26173971; PMCID: PMC4929867.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    48. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain. 2015 Aug; 138(Pt 8):2347-58. Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. PMID: 26063658.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    49. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. Eur Respir J. 2015 Aug; 46(2):474-85. Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B. PMID: 26022962.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
    50. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Int J Cancer. 2015 May 01; 136(9):2109-19. Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N. PMID: 25303718.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    51. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014 Oct; 51(10):689-97. Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H. PMID: 25097206.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    52. Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III. Hum Hered. 2014; 77(1-4):49-62. Gazal S, Sahbatou M, Perdry H, Letort S, Génin E, Leutenegger AL. PMID: 25060269.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    53. SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis. Ann Rheum Dis. 2014 Oct; 73(10):1840-3. Juge PA, van Steenbergen HW, Constantin A, Tobon GJ, Schaeverbeke T, Gazal S, Combe B, Devauchelle-Pensec V, Nigon D, van der Helm-van Mil AH, Dieude P. PMID: 24936586.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    54. A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed Res Int. 2014; 2014:925716. Hu HH, Benfodda M, Dumaz N, Gazal S, Descamps V, Bourillon A, Basset-Seguin N, Riffault A, Ezzedine K, Bagot M, Bensussan A, Saiag P, Grandchamp B, Soufir N. PMID: 24982914; PMCID: PMC4003837.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    55. FSuite: exploiting inbreeding in dense SNP chip and exome data. Bioinformatics. 2014 Jul 01; 30(13):1940-1. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. PMID: 24632498.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    56. Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene. Ann Rheum Dis. 2015 Mar; 74(3):e19. Gazal S, Sacre K, Allanore Y, Teruel M, Goodall AH, (The CARDIOGENICS consortium), Tohma S, Alfredsson L, Okada Y, Xie G, Constantin A, Balsa A, Kawasaki A, Nicaise P, Amos C, Rodriguez-Rodriguez L, Chiocchia G, Boileau C, Zhang J, Vittecoq O, Barnetche T, Gonzalez Gay MA, Furukawa H, Cantagrel A, Le Loët X, Sumida T, Hurtado-Nedelec M, Richez C, Chollet-Martin S, Schaeverbeke T, Combe B, Khoryati L, Coustet B, El-Benna J, Siminovitch K, Plenge R, Padyukov L, Martin J, Tsuchiya N, Dieudé P. PMID: 24448344.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    57. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS One. 2013; 8(8):e70621. Borie R, Crestani B, Dieude P, Nunes H, Allanore Y, Kannengiesser C, Airo P, Matucci-Cerinic M, Wallaert B, Israel-Biet D, Cadranel J, Cottin V, Gazal S, Peljto AL, Varga J, Schwartz DA, Valeyre D, Grandchamp B. PMID: 23940607; PMCID: PMC3734256.
      View in: PubMed   Mentions: 69     Fields:    Translation:HumansCells
    58. Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed? Hum Hered. 2012; 74(3-4):142-52. Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL. PMID: 23594492.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    59. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 07; 91(6):1135-43. Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N. PMID: 23217329; PMCID: PMC3516603.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    60. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet. 2011 Jun 10; 88(6):718-728. Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. PMID: 21596366; PMCID: PMC3113251.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    61. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011 May; 19(5):583-7. Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E. PMID: 21364699; PMCID: PMC3083608.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
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