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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: jenkinson s. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: jenkinson s. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. Trajkova S, et al. Among authors: jenkinson s. HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15. HGG Adv. 2024. PMID: 38751117 Free PMC article.
Author Correction: The state of the art in secondary pharmacology and its impact on the safety of new medicines.
Brennan RJ, Jenkinson S, Brown A, Delaunois A, Dumotier B, Pannirselvam M, Rao M, Ribeiro LR, Schmidt F, Sibony A, Timsit Y, Sales VT, Armstrong D, Lagrutta A, Mittlestadt SW, Naven R, Peri R, Roberts S, Vergis JM, Valentin JP. Brennan RJ, et al. Among authors: jenkinson s. Nat Rev Drug Discov. 2024 Jul;23(7):563. doi: 10.1038/s41573-024-00993-6. Nat Rev Drug Discov. 2024. PMID: 38886593 No abstract available.
Supporting an integrated QTc risk assessment using the hERG margin distributions for three positive control agents derived from multiple laboratories and on multiple occasions.
Leishman DJ, Brimecombe J, Crumb W, Hebeisen S, Jenkinson S, Kilfoil PJ, Matsukawa H, Melliti K, Qu Y. Leishman DJ, et al. Among authors: jenkinson s. J Pharmacol Toxicol Methods. 2024 Jul-Aug;128:107524. doi: 10.1016/j.vascn.2024.107524. Epub 2024 Jun 7. J Pharmacol Toxicol Methods. 2024. PMID: 38852689
The state of the art in secondary pharmacology and its impact on the safety of new medicines.
Brennan RJ, Jenkinson S, Brown A, Delaunois A, Dumotier B, Pannirselvam M, Rao M, Ribeiro LR, Schmidt F, Sibony A, Timsit Y, Sales VT, Armstrong D, Lagrutta A, Mittlestadt SW, Naven R, Peri R, Roberts S, Vergis JM, Valentin JP. Brennan RJ, et al. Among authors: jenkinson s. Nat Rev Drug Discov. 2024 Jul;23(7):525-545. doi: 10.1038/s41573-024-00942-3. Epub 2024 May 21. Nat Rev Drug Discov. 2024. PMID: 38773351 Review.
PDIA6 and Maspin in Prostate Cancer.
Smulders-Srinivasan TK, Jenkinson SE, Brown LJ, Lenis VP, Bass R. Smulders-Srinivasan TK, et al. Among authors: jenkinson se. Anticancer Res. 2023 Dec;43(12):5331-5340. doi: 10.21873/anticanres.16736. Anticancer Res. 2023. PMID: 38030170
290 results