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233 results

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GenPipes: an open-source framework for distributed and scalable genomic analyses.
Bourgey M, Dali R, Eveleigh R, Chen KC, Letourneau L, Fillon J, Michaud M, Caron M, Sandoval J, Lefebvre F, Leveque G, Mercier E, Bujold D, Marquis P, Van PT, Anderson de Lima Morais D, Tremblay J, Shao X, Henrion E, Gonzalez E, Quirion PO, Caron B, Bourque G. Bourgey M, et al. Among authors: marquis p. Gigascience. 2019 Jun 1;8(6):giz037. doi: 10.1093/gigascience/giz037. Gigascience. 2019. PMID: 31185495 Free PMC article.
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.
Yang Y, Knol MJ, Wang R, Mishra A, Liu D, Luciano M, Teumer A, Armstrong N, Bis JC, Jhun MA, Li S, Adams HHH, Aziz NA, Bastin ME, Bourgey M, Brody JA, Frenzel S, Gottesman RF, Hosten N, Hou L, Kardia SLR, Lohner V, Marquis P, Maniega SM, Satizabal CL, Sorond FA, Valdés Hernández MC, van Duijn CM, Vernooij MW, Wittfeld K, Yang Q, Zhao W, Boerwinkle E, Levy D, Deary IJ, Jiang J, Mather KA, Mosley TH, Psaty BM, Sachdev PS, Smith JA, Sotoodehnia N, DeCarli CS, Breteler MMB, Ikram MA, Grabe HJ, Wardlaw J, Longstreth WT, Launer LJ, Seshadri S, Debette S, Fornage M. Yang Y, et al. Among authors: marquis p. Brain. 2023 Feb 13;146(2):492-506. doi: 10.1093/brain/awac290. Brain. 2023. PMID: 35943854 Free PMC article.
Fourteen-genome comparison identifies DNA markers for severe-disease-associated strains of Clostridium difficile.
Forgetta V, Oughton MT, Marquis P, Brukner I, Blanchette R, Haub K, Magrini V, Mardis ER, Gerding DN, Loo VG, Miller MA, Mulvey MR, Rupnik M, Dascal A, Dewar K. Forgetta V, et al. Among authors: marquis p. J Clin Microbiol. 2011 Jun;49(6):2230-8. doi: 10.1128/JCM.00391-11. Epub 2011 Apr 20. J Clin Microbiol. 2011. PMID: 21508155 Free PMC article.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: marquis p. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
Towards a novel clinical outcome assessment for systemic lupus erythematosus: first outcomes of an international taskforce.
Connelly K, Eades LE, Koelmeyer R, Ayton D, Golder V, Kandane-Rathnayake R, Gregory K, Brunner H, Burke L, Arnaud L, Askanase A, Aranow C, Vital E, Pons-Estel G, Dantata K, Andersen J, Cornet A, Buie J, Sun Y, Tanaka Y, Simon L, Lahoud Y, Friedman A, Kalunian K, Zuraw Q, Werth V, Garces S, Morand EF; TRM-SLE Consortium. Connelly K, et al. Nat Rev Rheumatol. 2023 Sep;19(9):592-602. doi: 10.1038/s41584-023-00993-7. Epub 2023 Jul 11. Nat Rev Rheumatol. 2023. PMID: 37433880 Review.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau TA, Abdelfatah N, Squires J, King B, Houston J, Dyer MJ, Roslin NM, Vincent D, Marquis P, O'Rielly DD, Hodgkinson K, Burt T, Baker A, Stanton SG, Young TL. Singh S, et al. Among authors: marquis p. Eur J Hum Genet. 2023 Jul;31(7):815-823. doi: 10.1038/s41431-023-01358-0. Epub 2023 Apr 19. Eur J Hum Genet. 2023. PMID: 37072551 Free PMC article.
233 results