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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: eisfeldt j. medRxiv [Preprint]. 2024 Apr 24:2024.04.22.24305780. doi: 10.1101/2024.04.22.24305780. medRxiv. 2024. PMID: 38712270 Free PMC article. Preprint.
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
Wang S, Nikamo P, Laasonen L, Gudbjornsson B, Ejstrup L, Iversen L, Lindqvist U, Alm JJ, Eisfeldt J, Zheng X, Catrina SB, Taylan F, Vaz R, Ståhle M, Tapia-Paez I. Wang S, et al. Among authors: eisfeldt j. EMBO Mol Med. 2024 Mar;16(3):596-615. doi: 10.1038/s44321-024-00035-z. Epub 2024 Feb 20. EMBO Mol Med. 2024. PMID: 38379095 Free PMC article.
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, Öfverholm I, Sayyab S, Syvänen AC, Maqbool K, Lilljebjörn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogelstrand L, Nordlund J, Wirta V, Rosenquist R, Barbany G. Rezayee F, et al. Among authors: eisfeldt j. Front Oncol. 2023 Aug 14;13:1217712. doi: 10.3389/fonc.2023.1217712. eCollection 2023. Front Oncol. 2023. PMID: 37664045 Free PMC article.
Long-read whole-genome analysis of human single cells.
Hård J, Mold JE, Eisfeldt J, Tellgren-Roth C, Häggqvist S, Bunikis I, Contreras-Lopez O, Chin CS, Nordlund J, Rubin CJ, Feuk L, Michaëlsson J, Ameur A. Hård J, et al. Among authors: eisfeldt j. Nat Commun. 2023 Aug 24;14(1):5164. doi: 10.1038/s41467-023-40898-3. Nat Commun. 2023. PMID: 37620373 Free PMC article.
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K, Nilsson D, Thonberg H, Tham E, Ameur A, Eisfeldt J, Lindstrand A. Bilgrav Saether K, et al. Among authors: eisfeldt j. PLoS One. 2023 Jul 28;18(7):e0289346. doi: 10.1371/journal.pone.0289346. eCollection 2023. PLoS One. 2023. PMID: 37506127 Free PMC article.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: eisfeldt j. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: eisfeldt j. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
44 results