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Page 1
Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.
Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S. Carapito R, et al. Among authors: paul n. Sci Transl Med. 2022 Jan 19;14(628):eabj7521. doi: 10.1126/scitranslmed.abj7521. Epub 2022 Jan 19. Sci Transl Med. 2022. PMID: 34698500 Free article.
An immunogenomic exome landscape of triple positive primary antiphospholipid patients.
Guffroy A, Jacquel L, Seeleuthner Y, Paul N, Poindron V, Maurier F, Delannoy V, Voegeli AC, Zhang P, Nespola B, Molitor A, Apithy MJ, Soulas-Sprauel P, Martin T, Voll RE, Bahram S, Gies V, Casanova JL, Cobat A, Boisson B, Carapito R, Korganow AS. Guffroy A, et al. Among authors: paul n. Genes Immun. 2024 Apr;25(2):108-116. doi: 10.1038/s41435-024-00255-w. Epub 2024 Jan 24. Genes Immun. 2024. PMID: 38267542
Correction: An immunogenomic exome landscape of triple positive primary antiphospholipid patients.
Guffroy A, Jacquel L, Seeleuthner Y, Paul N, Poindron V, Maurier F, Delannoy V, Voegeli AC, Zhang P, Nespola B, Molitor A, Apithy MJ, Soulas-Sprauel P, Martin T, Voll RE, Bahram S, Gies V, Casanova JL, Cobat A, Boisson B, Carapito R, Korganow AS. Guffroy A, et al. Among authors: paul n. Genes Immun. 2024 Apr;25(2):176. doi: 10.1038/s41435-024-00261-y. Genes Immun. 2024. PMID: 38503874 No abstract available.
An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides.
Domingo-Calap P, Schubert B, Joly M, Solis M, Untrau M, Carapito R, Georgel P, Caillard S, Fafi-Kremer S, Paul N, Kohlbacher O, González-Candelas F, Bahram S. Domingo-Calap P, et al. Among authors: paul n. PLoS Pathog. 2018 Oct 18;14(10):e1007368. doi: 10.1371/journal.ppat.1007368. eCollection 2018 Oct. PLoS Pathog. 2018. PMID: 30335851 Free PMC article.
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Carapito R, et al. Among authors: paul n. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3. J Clin Invest. 2017. PMID: 28972538 Free PMC article.
Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.
Carapito R, Isidor B, Guerouaz N, Untrau M, Radosavljevic M, Launay E, Cassagnau E, Frenard C, Aubert H, Romefort B, Le Caignec C, Ott L, Paul N, Barbarot S, Bahram S. Carapito R, et al. Among authors: paul n. Br J Dermatol. 2015 Jan;172(1):302-5. doi: 10.1111/bjd.13261. Epub 2014 Dec 8. Br J Dermatol. 2015. PMID: 25039711 No abstract available.
1,022 results