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Ida Höijer
Ida Höijer
在 igp.uu.se 的电子邮件经过验证
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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
992022
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
972017
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
842018
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
652017
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
602018
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
522015
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
422020
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
412020
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
172020
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, ...
112022
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
72023
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
12024
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
12023
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
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