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961 results

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Page 1
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: jones sj. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
The Influence of Social Determinants on Receiving Outpatient Treatment with Monoclonal Antibodies, Disease Risk, and Effectiveness for COVID-19.
Ambrose N, Amin A, Anderson B, Bertagnolli M, Campion F, Chow D, Danan R, D'Arinzo L, Drews A, Erlandson K, Fitzgerald K, Gaspar F, Gong C, Hanna G, Hawley H, Jones S, Lopansri B, Mullen T, Musser J, O'Horo J, Piantadosi S, Pritt B, Razonable R, Rele S, Roberts S, Sandmeyer S, Stein D, Te J, Vahidy F, Webb B, Welch N, Wood A, Yttri J. Ambrose N, et al. J Gen Intern Med. 2023 Dec;38(16):3472-3481. doi: 10.1007/s11606-023-08324-y. Epub 2023 Sep 15. J Gen Intern Med. 2023. PMID: 37715096
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
O'Neill K, Pleasance E, Fan J, Akbari V, Chang G, Dixon K, Csizmok V, MacLennan S, Porter V, Galbraith A, Grisdale CJ, Culibrk L, Dupuis JH, Corbett R, Hopkins J, Bowlby R, Pandoh P, Smailus DE, Cheng D, Wong T, Frey C, Shen Y, Lewis E, Paulin LF, Sedlazeck FJ, Nelson JMT, Chuah E, Mungall KL, Moore RA, Coope R, Mungall AJ, McConechy MK, Williamson LM, Schrader KA, Yip S, Marra MA, Laskin J, Jones SJM. O'Neill K, et al. Among authors: jones sjm. Cell Genom. 2024 Oct 10:100674. doi: 10.1016/j.xgen.2024.100674. Online ahead of print. Cell Genom. 2024. PMID: 39406235 Free article.
Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing.
Cheng X, Goktas MT, Williamson LM, Krzywinski M, Mulder DT, Swanson L, Slind J, Sihvonen J, Chow CR, Carr A, Bosdet I, Tucker T, Young S, Moore R, Mungall KL, Yip S, Jones SJM. Cheng X, et al. Among authors: jones sjm. Brief Bioinform. 2024 Jul 25;25(5):bbae442. doi: 10.1093/bib/bbae442. Brief Bioinform. 2024. PMID: 39256198 Free PMC article.
A Deep Learning Approach for the Identification of the Molecular Subtypes of Pancreatic Ductal Adenocarcinoma Based on Whole Slide Pathology Images.
Ahmadvand P, Farahani H, Farnell D, Darbandsari A, Topham J, Karasinska J, Nelson J, Naso J, Jones SJM, Renouf D, Schaeffer DF, Bashashati A. Ahmadvand P, et al. Among authors: jones sjm. Am J Pathol. 2024 Aug 31:S0002-9440(24)00325-0. doi: 10.1016/j.ajpath.2024.08.006. Online ahead of print. Am J Pathol. 2024. PMID: 39222907 Free article.
Three and twelve-month analysis of the PROM-Q study: comparison of patient-reported outcome measures using the BREAST-Q questionnaire in pre- vs. sub-pectoral implant-based immediate breast reconstruction.
Rampal R, Jones SJ, Hartup S, Robertson C, Tahir W, Jones SL, McKenzie S, Savage JA, Kim B. Rampal R, et al. Among authors: jones sj. Breast Cancer Res Treat. 2024 Nov;208(2):275-282. doi: 10.1007/s10549-024-07416-5. Epub 2024 Jul 10. Breast Cancer Res Treat. 2024. PMID: 38985220
AI-based histopathology image analysis reveals a distinct subset of endometrial cancers.
Darbandsari A, Farahani H, Asadi M, Wiens M, Cochrane D, Khajegili Mirabadi A, Jamieson A, Farnell D, Ahmadvand P, Douglas M, Leung S, Abolmaesumi P, Jones SJM, Talhouk A, Kommoss S, Gilks CB, Huntsman DG, Singh N, McAlpine JN, Bashashati A. Darbandsari A, et al. Among authors: jones sjm. Nat Commun. 2024 Jun 26;15(1):4973. doi: 10.1038/s41467-024-49017-2. Nat Commun. 2024. PMID: 38926357 Free PMC article.
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ, Shen Y, Titmuss E, Dixon K, Williamson LM, Pleasance E, Nelson JMT, Abbasi S, Krzywinski M, Armstrong L, Bonakdar M, Ch'ng C, Chuah E, Dunham C, Fok A, Jones M, Lee AF, Ma Y, Moore RA, Mungall AJ, Mungall KL, Rogers PC, Schrader KA, Virani A, Wee K, Young SS, Zhao Y, Jones SJM, Laskin J, Marra MA, Rassekh SR. Deyell RJ, et al. Among authors: jones sjm. Nat Commun. 2024 May 16;15(1):4165. doi: 10.1038/s41467-024-48363-5. Nat Commun. 2024. PMID: 38755180 Free PMC article.
961 results