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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
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.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Sebastiano MR, 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 May 14:100309. doi: 10.1016/j.xhgg.2024.100309. Online ahead of print. HGG Adv. 2024. PMID: 38751117 Free article.
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 May 21. doi: 10.1038/s41573-024-00942-3. Online ahead of print. 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
Antidiabetic Medication Utilisation before and during Pregnancy in Switzerland between 2012 and 2019: An Administrative Claim Database from the MAMA Cohort.
Gerbier E, Favre G, Maisonneuve E, Ceulemans M, Winterfeld U, Dao K, Schmid CPR, Jenkinson SP, Niznik B, Baud D, Spoendlin J, Panchaud A. Gerbier E, et al. Among authors: jenkinson sp. J Diabetes Res. 2023 May 10;2023:4105993. doi: 10.1155/2023/4105993. eCollection 2023. J Diabetes Res. 2023. PMID: 37206113 Free PMC article.
Vision and practice of self-care for community pharmacy in Switzerland.
Amador-Fernández N, Jenkinson SP, Berger J. Amador-Fernández N, et al. Among authors: jenkinson sp. Explor Res Clin Soc Pharm. 2023 Mar 30;9:100253. doi: 10.1016/j.rcsop.2023.100253. eCollection 2023 Mar. Explor Res Clin Soc Pharm. 2023. PMID: 37095890 Free PMC article.
Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems.
Bednar EM, Chen M, Walsh MT Jr, Eppolito AL, Klein MH, Teed K, Hodge B, Hunter J, Chao HG, Davis D, Serchion W, Yobbi C, Krukenberg R, Jenkinson SB, Moore JJ, Garcia C, Gonzalez F, Murray T, Nielsen LD, Ho B, Haas M, Greenzweig SB, Anderson A, Johnson C, Morman NA, Bowdish E, Wise E, Cooper JN, Russ PK, Tondo-Steele K, de Gracia BF, Levin B, Mattie K, Zarnawski K, Kalasinski M, Stone J, O'Brien C, Bream A, Kennedy AM, Paul RA, Bilbao M, Romero M, Carr RL, Siettmann JM, Vercruyssen AK, Leon K, Arun BK, Grainger AV, Warshal DP, Bowman E, Goedde TA, Halaharvi D, Rath K, Grana G, Mina L, Lu KH. Bednar EM, et al. Among authors: jenkinson sb. Gynecol Oncol. 2023 May;172:106-114. doi: 10.1016/j.ygyno.2023.03.016. Epub 2023 Mar 31. Gynecol Oncol. 2023. PMID: 37004303 Free PMC article.
286 results