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Items: 1 to 50 of 57

1.

Genes with High Network Connectivity Are Enriched for Disease Heritability.

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.

Am J Hum Genet. 2019 Dec 5;105(6):1302. doi: 10.1016/j.ajhg.2019.11.009. No abstract available.

PMID:
31809749
2.

Analysis of Barley Leaf Epidermis and Extrahaustorial Proteomes During Powdery Mildew Infection Reveals That the PR5 Thaumatin-Like Protein TLP5 Is Required for Susceptibility Towards Blumeria graminis f. sp. hordei.

Lambertucci S, Orman KM, Das Gupta S, Fisher JP, Gazal S, Williamson RJ, Cramer R, Bindschedler LV.

Front Plant Sci. 2019 Oct 30;10:1138. doi: 10.3389/fpls.2019.01138. eCollection 2019.

3.

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 Oct 24. pii: S0091-6749(19)31366-1. doi: 10.1016/j.jaci.2019.09.035. [Epub ahead of print]

PMID:
31669095
4.

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability.

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.

Hum Mol Genet. 2019 Oct 9. pii: ddz226. doi: 10.1093/hmg/ddz226. [Epub ahead of print]

PMID:
31595288
5.

Functional disease architectures reveal unique biological role of transposable elements.

Hormozdiari F, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJ, Connor LO, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL.

Nat Commun. 2019 Sep 6;10(1):4054. doi: 10.1038/s41467-019-11957-5.

6.

The Genetic Architecture of Chronic Mountain Sickness in Peru.

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.

Front Genet. 2019 Jul 30;10:690. doi: 10.3389/fgene.2019.00690. eCollection 2019.

7.

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection.

O'Connor LJ, Schoech AP, Hormozdiari F, Gazal S, Patterson N, Price AL.

Am J Hum Genet. 2019 Sep 5;105(3):456-476. doi: 10.1016/j.ajhg.2019.07.003. Epub 2019 Aug 8.

PMID:
31402091
8.

Reconciling S-LDSC and LDAK functional enrichment estimates.

Gazal S, Marquez-Luna C, Finucane HK, Price AL.

Nat Genet. 2019 Aug;51(8):1202-1204. doi: 10.1038/s41588-019-0464-1. No abstract available.

PMID:
31285579
9.

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL.

Nat Genet. 2019 Aug;51(8):1295. doi: 10.1038/s41588-019-0468-x.

PMID:
31273336
10.

Genes with High Network Connectivity Are Enriched for Disease Heritability.

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.

Am J Hum Genet. 2019 May 2;104(5):896-913. doi: 10.1016/j.ajhg.2019.03.020. Erratum in: Am J Hum Genet. 2019 Dec 5;105(6):1302.

11.

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, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K; RACI Consortium, GARNET Consortium, Price AL, Raychaudhuri S.

Am J Hum Genet. 2019 May 2;104(5):879-895. doi: 10.1016/j.ajhg.2019.03.012. Epub 2019 Apr 18.

12.

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.

Am J Hum Genet. 2019 Apr 4;104(4):611-624. doi: 10.1016/j.ajhg.2019.02.008. Epub 2019 Mar 21.

13.

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection.

Schoech AP, Jordan DM, Loh PR, Gazal S, O'Connor LJ, Balick DJ, Palamara PF, Finucane HK, Sunyaev SR, Price AL.

Nat Commun. 2019 Feb 15;10(1):790. doi: 10.1038/s41467-019-08424-6.

14.

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL.

Am J Hum Genet. 2019 Jan 3;104(1):65-75. doi: 10.1016/j.ajhg.2018.11.008. Epub 2018 Dec 27.

15.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

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.

N Engl J Med. 2018 Dec 6;379(23):2209-2219. doi: 10.1056/NEJMoa1801562. Epub 2018 Oct 20.

16.

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL.

Nat Genet. 2018 Nov;50(11):1600-1607. doi: 10.1038/s41588-018-0231-8. Epub 2018 Oct 8.

17.

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 PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL.

Nat Genet. 2018 Oct;50(10):1483-1493. doi: 10.1038/s41588-018-0196-7. Epub 2018 Sep 3.

18.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

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.

Eur J Hum Genet. 2018 Dec;26(12):1759-1772. doi: 10.1038/s41431-018-0164-9. Epub 2018 Aug 7.

19.

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, Loh PR, Schoech A, Reshef Y, Liu X, O'Connor L, Gusev A, Eskin E, Price AL.

Nat Genet. 2018 Jul;50(7):1041-1047. doi: 10.1038/s41588-018-0148-2. Epub 2018 Jun 25.

20.

Mixed-model association for biobank-scale datasets.

Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL.

Nat Genet. 2018 Jul;50(7):906-908. doi: 10.1038/s41588-018-0144-6. No abstract available.

21.

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.

Nat Genet. 2018 May;50(5):737-745. doi: 10.1038/s41588-018-0108-x. Epub 2018 Apr 26.

22.

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 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.

Nat Genet. 2018 Apr;50(4):621-629. doi: 10.1038/s41588-018-0081-4. Epub 2018 Apr 9.

23.

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 Jun;57(6):294-303. doi: 10.1002/gcc.22528. Epub 2018 Feb 21.

PMID:
29359367
24.

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 PA, Gazal S, Constantin A, Mariette X, Combe B, Tebib J, Dougados M, Sibilia J, Le Loet X, Dieudé P.

RMD Open. 2017 Sep 28;3(2):e000448. doi: 10.1136/rmdopen-2017-000448. eCollection 2017.

25.

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.

Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL.

Nat Genet. 2017 Oct;49(10):1421-1427. doi: 10.1038/ng.3954. Epub 2017 Sep 11. Erratum in: Nat Genet. 2019 Aug;51(8):1295.

26.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

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.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

27.

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.

Am J Hum Genet. 2017 Apr 6;100(4):605-616. doi: 10.1016/j.ajhg.2017.03.002. Epub 2017 Mar 23.

28.

High level of inbreeding in final phase of 1000 Genomes Project.

Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL.

Sci Rep. 2015 Dec 2;5:17453. doi: 10.1038/srep17453.

29.

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, Ahmadian MR, Baruchel A, Chomienne C, Cavé H.

Nat Genet. 2015 Nov;47(11):1334-40. doi: 10.1038/ng.3420. Epub 2015 Oct 12.

PMID:
26457648
30.

Relationship inference from the genetic data on parents or offspring: A comparative study.

Gazal S, Génin E, Leutenegger AL.

Theor Popul Biol. 2016 Feb;107:31-8. doi: 10.1016/j.tpb.2015.09.002. Epub 2015 Sep 30.

31.

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.

Eur J Hum Genet. 2016 Apr;24(4):581-6. doi: 10.1038/ejhg.2015.143. Epub 2015 Jul 15.

32.

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 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.

PMID:
26063658
33.

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.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

34.

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.

Int J Cancer. 2015 May 1;136(9):2109-19. doi: 10.1002/ijc.29257. Epub 2014 Oct 24.

35.

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, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H.

J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136/jmedgenet-2014-102611. Epub 2014 Aug 5.

PMID:
25097206
36.

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

Gazal S, Sahbatou M, Perdry H, Letort S, Génin E, Leutenegger AL.

Hum Hered. 2014;77(1-4):49-62. doi: 10.1159/000358224. Epub 2014 Jul 29.

37.

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 Res Int. 2014;2014:925716. doi: 10.1155/2014/925716. Epub 2014 Apr 10.

38.

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.

Ann Rheum Dis. 2014 Oct;73(10):1840-3. doi: 10.1136/annrheumdis-2014-205539. Epub 2014 Jun 16.

PMID:
24936586
39.

FSuite: exploiting inbreeding in dense SNP chip and exome data.

Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL.

Bioinformatics. 2014 Jul 1;30(13):1940-1. doi: 10.1093/bioinformatics/btu149. Epub 2014 Mar 14.

40.

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene.

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.

Ann Rheum Dis. 2015 Mar;74(3):e19. doi: 10.1136/annrheumdis-2013-204581. Epub 2014 Jan 21.

PMID:
24448344
41.

Group A rotavirus and bacterial agents associated with diarrhoea-induced hospitalisations in children below 5 years of age in Jammu.

Gazal S, Taku A, Bhat MA, Badroo G.

Indian J Med Microbiol. 2014 Jan-Mar;32(1):57-9. doi: 10.4103/0255-0857.124308.

42.
43.

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 Aug 5;8(8):e70621. doi: 10.1371/journal.pone.0070621. Print 2013. Review.

44.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

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.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

45.

Predominance of rotavirus genotype G6P[11] in diarrhoeic lambs.

Gazal S, Taku AK, Kumar B.

Vet J. 2012 Jul;193(1):299-300. doi: 10.1016/j.tvjl.2011.11.018. Epub 2012 Jan 9.

PMID:
22230710
46.

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL.

Hum Hered. 2012;74(3-4):142-52. doi: 10.1159/000346790. Epub 2013 Apr 11.

47.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

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.

Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19.

48.

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, Génin E.

Eur J Hum Genet. 2011 May;19(5):583-7. doi: 10.1038/ejhg.2010.205. Epub 2011 Mar 2.

49.

Ovine rotaviruses.

Gazal S, Mir IA, Iqbal A, Taku AK, Kumar B, Bhat MA.

Open Vet J. 2011;1(1):50-4. Epub 2011 Dec 22. Review.

50.

Synthesis of a novel macrocyclic library: discovery of an IGF-1R inhibitor.

Qvit N, Reuveni H, Gazal S, Zundelevich A, Blum G, Niv MY, Feldstein A, Meushar S, Shalev DE, Friedler A, Gilon C.

J Comb Chem. 2008 Mar-Apr;10(2):256-66. doi: 10.1021/cc700113c. Epub 2008 Feb 14.

PMID:
18271560

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