CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations I Höijer, A Emmanouilidou, R Östlund, R Van Schendel, S Bozorgpana, ... Nature Communications 13 (1), 627, 2022 | 99 | 2022 |
Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications MH Weissensteiner, AWC Pang, I Bunikis, I Höijer, O Vinnere-Petterson, ... Genome research 27 (5), 697-708, 2017 | 97 | 2017 |
Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing I Höijer, YC Tsai, TA Clark, P Kotturi, N Dahl, EL Stattin, ML Bondeson, ... Human Mutation 39 (9), 1262-1272, 2018 | 84 | 2018 |
Amplification-free, CRISPR-Cas9 targeted enrichment and SMRT sequencing of repeat-expansion disease causative genomic regions YC Tsai, D Greenberg, J Powell, I Höijer, A Ameur, M Strahl, E Ellis, ... BioRxiv, 203919, 2017 | 65 | 2017 |
De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data A Ameur, H Che, M Martin, I Bunikis, J Dahlberg, I Höijer, S Häggqvist, ... Genes 9 (10), 486, 2018 | 60 | 2018 |
Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing L Cavelier, A Ameur, S Häggqvist, I Höijer, N Cahill, U Olsson-Strömberg, ... Bmc Cancer 15, 1-12, 2015 | 52 | 2015 |
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity I Höijer, J Johansson, S Gudmundsson, CS Chin, I Bunikis, S Häggqvist, ... Genome Biology 21, 1-19, 2020 | 42 | 2020 |
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting EB Madsen, I Höijer, T Kvist, A Ameur, MJ Mikkelsen Human mutation 41 (9), 1671-1679, 2020 | 41 | 2020 |
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image-and CRISPR/Cas9-based approach B von der Heyde, A Emmanouilidou, E Mazzaferro, S Vicenzi, I Höijer, ... Scientific reports 10 (1), 11831, 2020 | 17 | 2020 |
CRISPR‑Cas9 induces large structural variants at on‑target and off‑target sites in vivo that segregate across generations. Nat Commun 13: 627 I Höijer, A Emmanouilidou, R Östlund, R Van Schendel, S Bozorgpana, ... | 11 | 2022 |
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing J Johansson, S Lidéus, I Höijer, A Ameur, S Gudmundsson, G Annerén, ... Scientific reports 13 (1), 12856, 2023 | 7 | 2023 |
Medically relevant tandem repeats in nanopore sequencing of control cohorts W De Coster, I Hoijer, I Bruggeman, S D'Hert, M Melin, A Ameur, ... medRxiv, 2024.03. 06.24303700, 2024 | 1 | 2024 |
Kita crispants for systematic image-based genetic screens of complex traits in zebrafish larvae E Mazzaferro, C Metzendorf, H Zhang, E Mujica, I Höijer, G Alavioon, ... bioRxiv, 2023.07. 22.550161, 2023 | 1 | 2023 |
Nanopore adaptive sampling for rapid gene fusion detection in hematological malignancies I Hoijer, P Baliakas, J Palle, M Melin, L Feuk, C Ladenvall, T Pandzic, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 618-618, 2024 | | 2024 |
Genetic diagnosis of repeat expansion disordersusing targeted nanopore sequencing J Klar, I Hoijer, H Matsson, M Melin, A Ameur EUROPEAN JOURNAL OF HUMAN GENETICS 32, 623-623, 2024 | | 2024 |
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements J Eisfeldt, A Ameur, F Lenner, ET Berk de Boer, M Ek, J Wincent, R Vaz, ... medRxiv, 2023.12. 15.23299892, 2023 | | 2023 |
A national pilot study: Clinical long-read sequencing of chromosomal rearrangements J Eisfeldt, A Ameur, F Lenner, E ten Berk de Boer, M Ek, J Wincent, R Vaz, ... | | 2023 |
CRISPR-Cas9 induces large structural variants at on-target and off-target sitesin vivothat segregate across generations I Höijer, A Emmanouilidou, R Östlund, R van Schendel, S Bozorgpana, ... | | 2021 |
Targeted Long-read Sequencing: Development and Applications in Medical Genetics I Höijer Acta Universitatis Upsaliensis, 2021 | | 2021 |
SUPPLEMENTARY INFORMATION for CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo I Höijer | | 2021 |