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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: jonson t. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
Single-nucleus proteomics identifies regulators of protein transport.
Derks J, Jonson T, Leduc A, Khan S, Khoury L, Rafiee MR, Slavov N. Derks J, et al. Among authors: jonson t. bioRxiv [Preprint]. 2024 Jun 18:2024.06.17.599449. doi: 10.1101/2024.06.17.599449. bioRxiv. 2024. PMID: 38948785 Free PMC article. Preprint.
Beta-Blockers after Myocardial Infarction and Preserved Ejection Fraction.
Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators. Yndigegn T, et al. N Engl J Med. 2024 Apr 18;390(15):1372-1381. doi: 10.1056/NEJMoa2401479. Epub 2024 Apr 7. N Engl J Med. 2024. PMID: 38587241 Clinical Trial.
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.
Saba KH, Difilippo V, Kovac M, Cornmark L, Magnusson L, Nilsson J, van den Bos H, Spierings DC, Bidgoli M, Jonson T, Sumathi VP, Brosjö O, Staaf J, Foijer F, Styring E, Nathrath M, Baumhoer D, Nord KH. Saba KH, et al. Among authors: jonson t. J Pathol. 2024 Feb;262(2):147-160. doi: 10.1002/path.6219. Epub 2023 Nov 27. J Pathol. 2024. PMID: 38010733
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander J, Ullmark T, Ehrencrona H, Jonson T, Piccinelli P, Samuelsson S, Löwgren K, Falkenius-Schmidt K, Ehinger J, Stenfeldt K, Värendh M. Elander J, et al. Among authors: jonson t. Int J Pediatr Otorhinolaryngol. 2022 Aug;159:111218. doi: 10.1016/j.ijporl.2022.111218. Epub 2022 Jun 24. Int J Pediatr Otorhinolaryngol. 2022. PMID: 35779349 Free article.
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S. Christesen HT, et al. Among authors: jonson t. Eur J Med Genet. 2020 Jan;63(1):103632. doi: 10.1016/j.ejmg.2019.02.004. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797057 Free article.
Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer.
Karlsson J, Valind A, Holmquist Mengelbier L, Bredin S, Cornmark L, Jansson C, Wali A, Staaf J, Viklund B, Øra I, Börjesson A, Backman T, Braekeveldt N, Sandstedt B, Pal N, Isaksson A, Lackner BG, Jonson T, Bexell D, Gisselsson D. Karlsson J, et al. Among authors: jonson t. Nat Genet. 2018 Jul;50(7):944-950. doi: 10.1038/s41588-018-0131-y. Epub 2018 Jun 4. Nat Genet. 2018. PMID: 29867221
52 results