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Year Number of Results
2012 3
2013 1
2014 2
2016 2
2018 2
2019 2
2020 2
2021 1
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14 results
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Page 1
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: bellos e. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Mashbat B, Bellos E, Hodeib S, Bidmos F, Thwaites RS, Lu Y, Wright VJ, Herberg JA, Klobassa DS, Zenz W, Hansel TT, Nadel S, Langford PR, Schlapbach LJ, Li MS, Redinbo MR, Di YP, Levin M, Sancho-Shimizu V. Mashbat B, et al. Among authors: bellos e. Clin Infect Dis. 2020 May 6;70(10):2045-2053. doi: 10.1093/cid/ciz600. Clin Infect Dis. 2020. PMID: 31504285 Free PMC article.
Bioinformatics: living on the edge.
Bellos E, Coin LJ, Kaforou M. Bellos E, et al. Genome Biol. 2012 Oct 26;13(10):321. doi: 10.1186/gb-2012-13-10-321. Genome Biol. 2012. PMID: 23101505 Free PMC article.
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Borghesi A, Trück J, Asgari S, Sancho-Shimizu V, Agyeman PKA, Bellos E, Giannoni E, Stocker M, Posfay-Barbe KM, Heininger U, Bernhard-Stirnemann S, Niederer-Loher A, Kahlert CR, Natalucci G, Relly C, Riedel T, Kuehni CE, Thorball CW, Chaturvedi N, Martinon-Torres F, Kuijpers TW, Coin L, Wright V, Herberg J, Levin M, Aebi C, Berger C, Fellay J, Schlapbach LJ. Borghesi A, et al. Among authors: bellos e. Clin Infect Dis. 2020 Dec 17;71(10):e614-e623. doi: 10.1093/cid/ciaa290. Clin Infect Dis. 2020. PMID: 32185379 Free PMC article.
Plasma lipid profiles discriminate bacterial from viral infection in febrile children.
Wang X, Nijman R, Camuzeaux S, Sands C, Jackson H, Kaforou M, Emonts M, Herberg JA, Maconochie I, Carrol ED, Paulus SC, Zenz W, Van der Flier M, de Groot R, Martinon-Torres F, Schlapbach LJ, Pollard AJ, Fink C, Kuijpers TT, Anderson S, Lewis MR, Levin M, McClure M; EUCLIDS consortium. Wang X, et al. Sci Rep. 2019 Nov 27;9(1):17714. doi: 10.1038/s41598-019-53721-1. Sci Rep. 2019. PMID: 31776453 Free PMC article.
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.
Borghini L, Png E, Binder A, Wright VJ, Pinnock E, de Groot R, Hazelzet J, Emonts M, Van der Flier M, Schlapbach LJ, Anderson S, Secka F, Salas A, Fink C, Carrol ED, Pollard AJ, Coin LJ, Kuijpers TW, Martinon-Torres F, Zenz W, Levin M, Hibberd ML, Davila S; EUCLIDS consortium. Borghini L, et al. Sci Rep. 2019 May 6;9(1):6966. doi: 10.1038/s41598-019-43292-6. Sci Rep. 2019. PMID: 31061469 Free PMC article.
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE, Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. Sancho-Shimizu V, et al. J Exp Med. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. J Exp Med. 2021. PMID: 33904890 Free PMC article. Review.
14 results