SELECTED PUBLICATIONS

Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.
Sullivan PF*, Meadows JRS*, Gazal S*, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Saktikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wallerman O, Xue J, Li Y, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zoonomia Consortium, Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K.
In press in Science. * co-first authors.

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.
Gazal S, Weissbrod O, Hormozdiari F, Dey K, Nasser J, Jagadeesh K, Weiner D, Shi H, Fulco C, O’Connor L, Pasaniuc B, Engreitz JM, Price AL.
Nature Genetics, 2022, 54, 827–836.
See also news & views in Nature Genetics.

Reconciling S-LDSC and LDAK functional enrichment estimates.
Gazal S, Marquez-Luna C, Finucane HK, Price AL.
Nature Genetics, 2019, 51, 1202–1204.

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.
Gazal S, Loh P-R, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL.
Nature Genetics, 2018, 50, 1600–1607.

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.
Gazal S, Finucane HK, Furlotte NA, Loh P-R, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL.
Nature Genetics, 2017, 49, 1421–1427.

ALL PUBLICATIONS

2022

57. Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.
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.
Nat Genet, 2022.

56. Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores.
Weissbrod O, Kanai M, Shi H, Gazal S, Peyrot WJ, Khera AV, Okada Y; Biobank Japan Project, Martin AR, Finucane HK, Price AL.
Nat Genet, 2022, 54(4):450-458.

55. Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.
Burch KS, Hou K, Ding Y, Wang Y, Gazal S, Shi H, Pasaniuc B.
Am J Hum Genet, 2022, 109(4):692-709.

54. Partitioning gene-mediated disease heritability without eQTLs.
Weiner DJ, Gazal S, Robinson EB, O'Connor LJ.
Am J Hum Genet, 2022, 109(3):405-416.

2021

53. Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets.
Márquez-Luna C, Gazal S, Loh PR, Kim SS, Furlotte N, Auton A; 23andMe Research Team, Price AL.
Nat Commun, 2021, 12(1):6052.

52. An integrated approach to identify environmental modulators of genetic risk factors for complex traits.
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.
Am J Hum Genet, 2021, 108(10):1866-1879.

51. Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations.
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.
Hum Mol Genet, 2021, 30(16):1521-1534.

50. COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets.
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.
Nature, 2021, 595(7865):107-113.

49. Population-specific causal disease effect sizes in functionally important regions impacted by selection.
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.
Nat Commun, 2021, 12(1):1098.

2020

48. Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.
Kim SS, Dey KK, Weissbrod O, Márquez-Luna C, Gazal S, Price AL.
Nat Commun, 2020, 11(1):6258.

47. Functionally informed fine-mapping and polygenic localization of complex trait heritability.
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.
Nat Genet, 2020, 52(12):1355-1363.

46. Combining case-control status and family history of disease increases association power.
Hujoel MLA, Gazal S, Loh P-R, Patterson, Price AL.
Nat Genet, 2020, 52(5):541-547.

45. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
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.
Nat Genet, 2020, 52(7):669-679.

44. Methotrexate and rheumatoid arthritis associated interstitial lung disease.
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.
Eur Respir J, 2020.

2019

43. Reconciling S-LDSC and LDAK functional enrichment estimates.
Gazal S, Marquez-Luna C, Finucane HK, Price AL.
Nature Genetics, 2019, 51, 1202–1204.

42. Genetic architecture of Chronic Mountain Sickness in Peru.
Gazal S, Espinoza JR, Austerlitz F, Marchant D, Macarlupu JL, Rodriguez J, Preciado HJ, Rivera-Chira M, Hermine O, Leon-Velarde F, Richalet JP, Gouya L.
Front Genet, 2019, 10, 690.

41. Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection.
Schoech A, Jordan D, Loh P-R, Gazal S, O’Connor L, Balick DJ, Palamara PF, Finucane H, Sunyaev SR, Price AL.
Nature Communication, 2019, 10(1):790.

40. Functional disease architectures reveal unique biological role of transposable elements.
Hormozdiari FI, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJT, O'Connor LJ, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL.
Nature Communications, 2019, 10(1):4054.

39. Extreme polygenicity of complex traits is explained by negative selection.
O’Connor LJ, Schoech A, Hormozdiari F, Gazal S, Patterson N, Price AL.
The American Journal of Human Genetics, 2019, 105(3):456-476.

38. IMPACT: Genomic annotation of cell-state-specific regulatory elements inferred from the epigenome of bound transcription factors.
Amariuta T, Luo Y, Gazal S, Davenport EE, Geijn B van de, Westra H-J, Teslovich N, Okada Y, Yamamoto K, Consortium R, Consortium G, Price AL, Raychaudhuri S.
The American Journal of Human Genetics, 2019, 104(5):879-895.

37. Genes with high network connectivity are enriched for disease heritability.
Kim SK, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh P-R, Finucane HK, Raychaudhuri S, Price AL.
The American Journal of Human Genetics, 2019, 104(5):896-913.

36. Disease heritability enrichment of regulatory elements is concentrated in elements with ancient sequence age and conserved function across species.
Hujoel MLA, Gazal S, Hormozdiari F, van de Geijn B, Price AL.
The American Journal of Human Genetics, 2019, 104(4):611-624.

35. Leveraging polygenic functional enrichment to improve GWAS power.
Kichaev G, Bhatia G, Loh P-R, Gazal S, Burch K, Freund M, Scoech A, Pasaniuc B, Price A.
The American Journal of Human Genetics, 2019, 104(1):65-75.

34. Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank.
Zhu Z, Guo Y, Shi H, Liu CL, Panganiban RA, Chung W, O'Connor LJ, Himes BE, Gazal S, Hasegawa K, Camargo CA Jr, Qi L, Moffatt MF, Hu FB, Lu Q, Cookson WOC, Liang L.
J Allergy Clin Immunol, 2019, 145(2):537-549.

33. Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability.
van de Geijn B, Finucane HK, Gazal S, Hormozdiari F, Amariuta T, Liu X, Gusev A, Loh P-R, Reshef Y, Kichaev G, Raychauduri S, Price AL.
Hum Mol Genet, 2019, 29(7):1057-1067.

2018

32. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.
Gazal S, Loh P-R, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL.
Nature Genetics, 2018, 50, 1600–1607.

31. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.
Juge P-A, 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 R-M, Nunes H, Valeyre D, Saidenberg-Kermanac’h N, Boissier M-C, 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 M-P, Boileau C, Crestani B, Schwartz DA, Dieudé P.
New England Journal of Medicine, 2018, 379, 2209–2219.

30. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits.
Hormozdiari F, Gazal S, van de Geijn B, Finucane HK, Ju CJ-T, Loh P-R, Schoech A, Reshef Y, Liu X, O’Connor L, Gusev A, Eskin E, Price AL.
Nature Genetics, 2018, 50, 1041–1047.

29. Mixed-model association for biobank-scale datasets.
Loh P-R, Kichaev G, Gazal S, Schoech AP, Price AL.
Nature Genetics, 2018, 50, 906–908.

28. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh P-R, 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.
Nature Genetics, 2018, 50, 621–629.

27. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.
Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O’Connor L, van de Geijn B, Loh P-R, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL.
Nature Genetics, 2018, 50, 1483–1493.

26. Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.
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.
Nature Genetics, 2018, 50, 737–745.

25. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.
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.
Genes, Chromosomes & Cancer, 2018, 57, 294–303.

24. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
Aubart M, Gazal S, Arnaud P, Benarroch L, Gross M-S, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob M-P, Gouya L, Génin E, Deleuze J-F, Jondeau G, Boileau C.
European journal of human genetics, 2018, 26, 1759–1772.

2017

23. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.
Gazal S, Finucane HK, Furlotte NA, Loh P-R, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL.
Nature Genetics, 2017, 49, 1421–1427.

22. Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues.
Liu X, Finucane HK, Gusev A, Bhatia G, Gazal S, O’Connor L, Bulik-Sullivan B, Wright FA, Sullivan PF, Neale BM, Price AL.
The American Journal of Human Genetics, 2017, 100, 605–616.

21. 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.
Juge P-A, Gazal S, Constantin A, Mariette X, Combe B, Tebib J, Dougados M, Sibilia J, Le Loet X, Dieudé P.
RMD open, 2017, 3, e000448.

20. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Juge P-A, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray M-P, 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 J-P, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo R-M, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier M-C, 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.
The European Respiratory Journal, 2017, 49(5).

2016

19. Relationship inference from genetic data on parents or offspring: a comparative study.
Gazal S, Genin E, Leutenegger AL.
Theoretical Population Biology, 2016, 107, 31–38.

18. Can whole-exome sequencing data be used for linkage analysis?
Gazal S, Gosset S, Verdura E, Bergametti F, Guey S, Babron MC, Tournier-Lasserve E.
European journal of human genetics, 2016, 24, 581–586.

2015

17. High level of inbreeding in final phase of 1000 Genomes Project.
Gazal S, Sahbatou M, Babron MC, Genin E, Leutenegger AL.
Scientific Reports, 2015, 5, 17453.

16. Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene.
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, Chioccia G, Boileau C, Zhang J, Vittecoq O, Barnetche T, Gonzalez Gay MA, Furukawa H, Cantagrel A, Le Loet 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, Dieude P.
Annals of the Rheumatic Diseases, 2015, 74, e19.

15. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
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, Reza Ahmadian M, Baruchel A, Chomienne C, Cavé H.
Nature Genetics, 2015, 47, 1334–1340.

14. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
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.
Brain, 2015, 138(8):2347-58.

13. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
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.
The European Respiratory Journal, 2015, 46(2):474-85.

12. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.
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.
International Journal of Cancer, 2015, 136(9):2109-19.

2014

11. FSuite: exploiting inbreeding in dense SNP chip and exome data.
Gazal S, Sahbatou M, Babron MC, Genin E, Leutenegger AL.
Bioinformatics, 2014, 30: 1940-1941.

10. Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III.
Gazal S, Sahbatou M, Perdry H, Letort S, Genin E, Leutenegger AL.
Human Heredity, 2014, 77: 49-62.

09. SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis.
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.
Annals of the Rheumatic Diseases, 2014, 73(10): 1840-1843.

08. A large french case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
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.
BioMed Research International, 2014, 925716.

07. Juvenile myelomonocytic leukaemia and Noonan syndrome.
Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Mechinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cave H.
Journal of Medical Genetics, 2014, 51, 689–697.

2013

06. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.
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.
PloS One, 2013, 8, e70621.

2012

05. Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?
Genin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL.
Human Heredity, 2012, 74, 142–152.

04. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N.
American Journal of Human Genetics, 2012, 91, 1135–1143.

2011

03. Accuracy of variational estimates for random graph mixture models.
Gazal S, Daudin JJ, Robin S.
Journal of Statistical Computation and Simulation, 2011, 82(6): 849-862.

02. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?
Leutenegger AL, Sahbatou M, Gazal S, Cann H, Genin E.
European journal of human genetics, 2011, 19, 583–587.

01. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte S, Butler MG, Herve 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.
American Journal of Human Genetics, 2011, 88, 718–728.