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Mammalian evolution of human cis-regulatory elements and transcription factor binding sites. Science. 2023 04 28; 380(6643):eabn7930.
Andrews G, Fan K, Pratt HE, Phalke N, Zoonomia Consortium§, Karlsson EK, Lindblad-Toh K, Gazal S, Moore JE, Weng Z. PMID: 37104580.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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Three-dimensional genome rewiring in loci with human accelerated regions. Science. 2023 04 28; 380(6643):eabm1696.
Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E, Zoonomia Consortium§, Nowakowski T, Ahituv N, Pollen A, Pollard KS. PMID: 37104607.
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PubMed Mentions:
3 Fields:
Translation:
HumansAnimalsCells
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The contribution of historical processes to contemporary extinction risk in placental mammals. Science. 2023 04 28; 380(6643):eabn5856.
Wilder AP, Supple MA, Subramanian A, Mudide A, Swofford R, Serres-Armero A, Steiner C, Koepfli KP, Genereux DP, Karlsson EK, Lindblad-Toh K, Marques-Bonet T, Munoz Fuentes V, Foley K, Meyer WK, Zoonomia Consortium‡, Ryder OA, Shapiro B. PMID: 37104572; PMCID: PMC10184782.
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PubMed Mentions:
1 Fields:
Translation:
Animals
-
Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science. 2023 04 28; 380(6643):eabn2937.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zheng Z, Zeng J, Wray NR, Li Y, Johnson J, Chen J, Zoonomia Consortium§, Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. PMID: 37104612; PMCID: PMC10259825.
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PubMed Mentions:
12 Fields:
Translation:
HumansAnimals
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A genomic timescale for placental mammal evolution. Science. 2023 04 28; 380(6643):eabl8189.
Foley NM, Mason VC, Harris AJ, Bredemeyer KR, Damas J, Lewin HA, Eizirik E, Gatesy J, Karlsson EK, Lindblad-Toh K, Zoonomia Consortium‡, Springer MS, Murphy WJ. PMID: 37104581; PMCID: PMC10233747.
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PubMed Mentions:
5 Fields:
Translation:
Animals
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Relating enhancer genetic variation across mammals to complex phenotypes using machine learning. Science. 2023 04 28; 380(6643):eabm7993.
Kaplow IM, Lawler AJ, Schäffer DE, Srinivasan C, Sestili HH, Wirthlin ME, Phan BN, Prasad K, Brown AR, Zhang X, Foley K, Genereux DP, Zoonomia Consortium**, Karlsson EK, Lindblad-Toh K, Meyer WK, Pfenning AR. PMID: 37104615; PMCID: PMC10322212.
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PubMed Mentions:
5 Fields:
Translation:
AnimalsCells
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Integrating gene annotation with orthology inference at scale. Science. 2023 04 28; 380(6643):eabn3107.
Kirilenko BM, Munegowda C, Osipova E, Jebb D, Sharma V, Blumer M, Morales AE, Ahmed AW, Kontopoulos DG, Hilgers L, Lindblad-Toh K, Karlsson EK, Zoonomia Consortium‡, Hiller M. PMID: 37104600; PMCID: PMC10193443.
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PubMed Mentions:
8 Fields:
Translation:
Animals
-
Evolutionary constraint and innovation across hundreds of placental mammals. Science. 2023 04 28; 380(6643):eabn3943.
Christmas MJ, Kaplow IM, Genereux DP, Dong MX, Hughes GM, Li X, Sullivan PF, Hindle AG, Andrews G, Armstrong JC, Bianchi M, Breit AM, Diekhans M, Fanter C, Foley NM, Goodman DB, Goodman L, Keough KC, Kirilenko B, Kowalczyk A, Lawless C, Lind AL, Meadows JRS, Moreira LR, Redlich RW, Ryan L, Swofford R, Valenzuela A, Wagner F, Wallerman O, Brown AR, Damas J, Fan K, Gatesy J, Grimshaw J, Johnson J, Kozyrev SV, Lawler AJ, Marinescu VD, Morrill KM, Osmanski A, Paulat NS, Phan BN, Reilly SK, Schäffer DE, Steiner C, Supple MA, Wilder AP, Wirthlin ME, Xue JR, Zoonomia Consortium§, Birren BW, Gazal S, Hubley RM, Koepfli KP, Marques-Bonet T, Meyer WK, Nweeia M, Sabeti PC, Shapiro B, Smit AFA, Springer MS, Teeling EC, Weng Z, Hiller M, Levesque DL, Lewin HA, Murphy WJ, Navarro A, Paten B, Pollard KS, Ray DA, Ruf I, Ryder OA, Pfenning AR, Lindblad-Toh K, Karlsson EK. PMID: 37104599; PMCID: PMC10250106.
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PubMed Mentions:
12 Fields:
Translation:
HumansAnimalsCells
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Insights into mammalian TE diversity through the curation of 248 genome assemblies. Science. 2023 04 28; 380(6643):eabn1430.
Osmanski AB, Paulat NS, Korstian J, Grimshaw JR, Halsey M, Sullivan KAM, Moreno-Santillán DD, Crookshanks C, Roberts J, Garcia C, Johnson MG, Densmore LD, Stevens RD, Zoonomia Consortium†, Rosen J, Storer JM, Hubley R, Smit AFA, Dávalos LM, Karlsson EK, Lindblad-Toh K, Ray DA. PMID: 37104570.
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PubMed Mentions:
3 Fields:
Translation:
AnimalsCells
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Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs. Science. 2023 04 28; 380(6643):eabn5887.
Moon KL, Huson HJ, Morrill K, Wang MS, Li X, Srikanth K, Zoonomia Consortium, Lindblad-Toh K, Svenson GJ, Karlsson EK, Shapiro B. PMID: 37104591; PMCID: PMC10184777.
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PubMed Mentions: Fields:
Translation:
Animals
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The functional and evolutionary impacts of human-specific deletions in conserved elements. Science. 2023 04 28; 380(6643):eabn2253.
Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X, Zoonomia Consortium†, Lindblad-Toh K, Karlsson EK, Noonan JP, Capellini TD, Brennand KJ, Tewhey R, Sabeti PC, Reilly SK. PMID: 37104592; PMCID: PMC10202372.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics. medRxiv. 2023 Mar 29.
Zhang Z, Jung J, Kim A, Suboc N, Gazal S, Mancuso N. PMID: 37034739; PMCID: PMC10081403.
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PubMed Mentions:
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The lingering effects of Neanderthal introgression on human complex traits. Elife. 2023 03 20; 12.
Wei X, Robles CR, Pazokitoroudi A, Ganna A, Gusev A, Durvasula A, Gazal S, Loh PR, Reich D, Sankararaman S. PMID: 36939312; PMCID: PMC10076017.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansAnimals
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Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease. bioRxiv. 2023 Mar 10.
Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wallerman O, Xue JR, Li Y, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler AJ, Keough KC, Zheng Z, Zeng J, Wray NR, Johnson J, Chen J, Zoonomia Consortium, Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. PMID: 36945512; PMCID: PMC10028973.
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PubMed Mentions:
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Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics. Nat Genet. 2022 10; 54(10):1479-1492.
Jagadeesh KA, Dey KK, Montoro DT, Mohan R, Gazal S, Engreitz JM, Xavier RJ, Price AL, Regev A. PMID: 36175791; PMCID: PMC9910198.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
4
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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; PMCID: PMC9894581.
View in:
PubMed Mentions:
27 Fields:
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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.
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PubMed Mentions:
46 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
2
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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.
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PubMed Mentions:
29 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
256 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
9
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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.
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PubMed Mentions:
39 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
32 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
66 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
136 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
2 Fields:
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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.
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PubMed Mentions:
121 Fields:
Translation:
HumansAnimals
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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.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
70 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
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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:
9
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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.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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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:
30 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
49 Fields:
Translation:
Humans
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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:
376 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
144 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
62 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
38 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
251 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
75 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
106 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
385 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
10
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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.
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PubMed Mentions:
177 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
66 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
43 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
77 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
69 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
76 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
43 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
17 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
82 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
63 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
37 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
29 Fields:
Translation:
Humans