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Steven Gazal

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  1. K99HG010160 (GAZAL, STEVEN) Sep 7, 2018 - Jun 30, 2020
    NIH/NHGRI
    From common to rare variant functional architectures of human diseases
    Role: Principal Investigator

Bibliographic
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. 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 J, Doyle T, Ryu JH, Rosas I, Holers VM, Boileau C, Debray MP, Porcher R, Schwartz DA, Vassallo R, Crestani B, Dieudé P. Methotrexate and rheumatoid arthritis associated interstitial lung disease. Eur Respir J. 2020 Jul 09. PMID: 32646919.
    Citations:    
  2. 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. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet. 2020 Jul; 52(7):669-679. PMID: 32514122.
    Citations:    
  3. 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. Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability. Hum Mol Genet. 2020 May 08; 29(7):1057-1067. PMID: 31595288.
    Citations:    
  4. Hujoel MLA, Gazal S, Loh PR, Patterson N, Price AL. Liability threshold modeling of case-control status and family history of disease increases association power. Nat Genet. 2020 05; 52(5):541-547. PMID: 32313248.
    Citations:    
  5. 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. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 Dec 05; 105(6):1302. PMID: 31809749.
    Citations:    
  6. 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. Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank. J Allergy Clin Immunol. 2020 Feb; 145(2):537-549. PMID: 31669095.
    Citations:    
  7. Hormozdiari F, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJ, Connor LO, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL. Functional disease architectures reveal unique biological role of transposable elements. Nat Commun. 2019 09 06; 10(1):4054. PMID: 31492842.
    Citations:    
  8. O'Connor LJ, Schoech AP, Hormozdiari F, Gazal S, Patterson N, Price AL. Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. Am J Hum Genet. 2019 09 05; 105(3):456-476. PMID: 31402091.
    Citations:    
  9. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2019 Aug; 51(8):1295. PMID: 31273336.
    Citations:    
  10. Gazal S, Marquez-Luna C, Finucane HK, Price AL. Reconciling S-LDSC and LDAK functional enrichment estimates. Nat Genet. 2019 08; 51(8):1202-1204. PMID: 31285579.
    Citations:    
  11. 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. The Genetic Architecture of Chronic Mountain Sickness in Peru. Front Genet. 2019; 10:690. PMID: 31417607.
    Citations:    
  12. 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. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 05 02; 104(5):896-913. PMID: 31051114.
    Citations:    
  13. Amariuta T, Luo Y, Gazal S, Davenport EE, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K, Price AL, Raychaudhuri S. 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. PMID: 31006511.
    Citations:    
  14. Hujoel MLA, Gazal S, Hormozdiari F, van de Geijn B, Price AL. 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. PMID: 30905396.
    Citations:    
  15. Schoech AP, Jordan DM, Loh PR, Gazal S, O'Connor LJ, Balick DJ, Palamara PF, Finucane HK, Sunyaev SR, Price AL. Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. Nat Commun. 2019 02 15; 10(1):790. PMID: 30770844.
    Citations:    
  16. Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL. Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Am J Hum Genet. 2019 01 03; 104(1):65-75. PMID: 30595370.
    Citations:    Fields:    
  17. 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. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. N Engl J Med. 2018 12 06; 379(23):2209-2219. PMID: 30345907.
    Citations:    Fields:    Translation:HumansCells
  18. Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL. 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. PMID: 30297966.
    Citations:    Fields:    
  19. 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. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. Nat Genet. 2018 10; 50(10):1483-1493. PMID: 30177862.
    Citations:    Fields:    
  20. 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. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet. 2018 12; 26(12):1759-1772. PMID: 30087447.
    Citations: 1     Fields:    
  21. Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. Mixed-model association for biobank-scale datasets. Nat Genet. 2018 07; 50(7):906-908. PMID: 29892013.
    Citations: 1     Fields:    
  22. 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. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. Nat Genet. 2018 07; 50(7):1041-1047. PMID: 29942083.
    Citations: 1     Fields:    
  23. Evans LM, Tahmasbi R, Vrieze SI, Abecasis GR, Das S, Gazal S, Bjelland DW, de Candia TR, Goddard ME, Neale BM, Yang J, Visscher PM, Keller MC. 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. PMID: 29700474.
    Citations: 1     Fields:    
  24. 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, Perry JRB, Buenrostro JD, Bernstein BE, Raychaudhuri S, McCarroll S, Neale BM, Price AL. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018 04; 50(4):621-629. PMID: 29632380.
    Citations: 3     Fields:    
  25. 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. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Genes Chromosomes Cancer. 2018 Jun; 57(6):294-303. PMID: 29359367.
    Citations:    Fields:    Translation:Humans
  26. Juge PA, Gazal S, Constantin A, Mariette X, Combe B, Tebib J, Dougados M, Sibilia J, Le Loet X, Dieudé P. 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. PMID: 29071117.
    Citations: 1     
  27. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2017 Oct; 49(10):1421-1427. PMID: 28892061.
    Citations: 4     Fields:    Translation:Humans
  28. 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, Boileau C, Crestani B, Dieudé P. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Eur Respir J. 2017 05; 49(5). PMID: 28495692.
    Citations: 5     Fields:    Translation:Humans
  29. Liu X, Finucane HK, Gusev A, Bhatia G, Gazal S, O'Connor L, Bulik-Sullivan B, Wright FA, Sullivan PF, Neale BM, Price AL. 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. PMID: 28343628.
    Citations: 6     Fields:    Translation:Humans
  30. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. High level of inbreeding in final phase of 1000 Genomes Project. Sci Rep. 2015 Dec 02; 5:17453. PMID: 26625947.
    Citations: 10     Fields:    Translation:Humans
  31. 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. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015 Nov; 47(11):1334-40. PMID: 26457648.
    Citations: 26     Fields:    Translation:HumansCells
  32. Gazal S, Génin E, Leutenegger AL. Relationship inference from the genetic data on parents or offspring: A comparative study. Theor Popul Biol. 2016 Feb; 107:31-8. PMID: 26431644.
    Citations:    Fields:    Translation:Humans
  33. Gazal S, Gosset S, Verdura E, Bergametti F, Guey S, Babron MC, Tournier-Lasserve E. Can whole-exome sequencing data be used for linkage analysis? Eur J Hum Genet. 2016 Apr; 24(4):581-6. PMID: 26173971.
    Citations: 2     Fields:    Translation:Humans
  34. 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. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain. 2015 Aug; 138(Pt 8):2347-58. PMID: 26063658.
    Citations: 9     Fields:    Translation:Humans
  35. 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. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. Eur Respir J. 2015 Aug; 46(2):474-85. PMID: 26022962.
    Citations: 27     Fields:    Translation:HumansCells
  36. 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. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Int J Cancer. 2015 May 01; 136(9):2109-19. PMID: 25303718.
    Citations: 6     Fields:    Translation:HumansCells
  37. 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. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014 Oct; 51(10):689-97. PMID: 25097206.
    Citations: 9     Fields:    Translation:Humans
  38. Gazal S, Sahbatou M, Perdry H, Letort S, Génin E, Leutenegger AL. Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III. Hum Hered. 2014; 77(1-4):49-62. PMID: 25060269.
    Citations: 4     Fields:    Translation:Humans
  39. 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. 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. PMID: 24936586.
    Citations: 5     Fields:    Translation:Humans
  40. 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. A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed Res Int. 2014; 2014:925716. PMID: 24982914.
    Citations: 2     Fields:    Translation:HumansCells
  41. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. FSuite: exploiting inbreeding in dense SNP chip and exome data. Bioinformatics. 2014 Jul 01; 30(13):1940-1. PMID: 24632498.
    Citations: 12     Fields:    Translation:Humans
  42. Gazal S, Sacre K, Allanore Y, Teruel M, Goodall AH, 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. Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene. Ann Rheum Dis. 2015 Mar; 74(3):e19. PMID: 24448344.
    Citations: 11     Fields:    Translation:HumansCells
  43. 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. 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. PMID: 23940607.
    Citations: 38     Fields:    Translation:HumansCells
  44. Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL. 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. PMID: 23594492.
    Citations: 1     Fields:    Translation:Humans
  45. 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. 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. PMID: 23217329.
    Citations: 42     Fields:    Translation:Humans
  46. 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. 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. PMID: 21596366.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  47. Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E. 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. PMID: 21364699.
    Citations: 16     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.