Ameur A

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Family name Ameur
Given name Adam
Initials A
ORCID

ORCID 0000-0001-6085-6749
Affiliations Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75185, Uppsala, Sweden.

43 publications

PubMed DOI Crossref
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Izydorczyk MB, Kalef-Ezra E, Horner DW, ..., Sedlazeck FJ, Proukakis C
Commun Biol 8 (1) 1627 [2025-11-20; online 2025-11-20]
PubMed DOI Crossref
T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population.
Schmitz D, Ameur A, Johansson Å
Genome Res 35 (11) 2377-2388 [2025-11-03; online 2025-11-03]
DOI Crossref
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads
Höijer I, van Schendel R, Emmanouilidou A, ..., den Hoed M, Ameur A
- - (-) - [2025-09-09; online 2025-09-09]
PubMed DOI Crossref
UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups.
Ralf A, Zandstra D, van Wersch B, ..., Schneider PM, Kayser M
Eur. J. Hum. Genet. 33 (7) 904-912 [2025-07-00; online 2025-05-08]
PubMed DOI Crossref
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.
Kämpe A, Gudmundsson S, Walsh CP, ..., Lindstrand A, Lappalainen T
Nat. Med. 31 (6) 1730-1732 [2025-06-00; online 2025-04-05]
PubMed DOI Crossref
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A
Genome Res 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]
PubMed DOI Crossref
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.
De Coster W, Höijer I, Bruggeman I, ..., Ameur A, Rademakers R
Genome Res 34 (11) 2074-2080 [2024-11-20; online 2024-11-20]
PubMed DOI Crossref
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A
Genome Res 34 (11) 1774-1784 [2024-11-20; online 2024-11-20]
PubMed DOI Crossref
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Izydorczyk MB, Kalef-Ezra E, Horner DW, ..., Sedlazeck FJ, Proukakis C
medRxiv - (-) - [2024-11-11; online 2024-11-11]
PubMed DOI Crossref
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.
Lysenkova Wiklander M, Arvidsson G, Bunikis I, ..., Ameur A, Nordlund J
Life Sci. Alliance 7 (8) - [2024-08-00; online 2024-05-22]
PubMed DOI Crossref
MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma.
Sydow S, Piccinelli P, Mitra S, ..., Spierings D, Mertens F
Commun Biol 7 (1) 606 [2024-05-20; online 2024-05-20]
PubMed DOI Crossref
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K, Eisfeldt J, Bengtsson J, ..., Carvalho CMB, Lindstrand A
medRxiv - (-) - [2024-04-24; online 2024-04-24]
DOI Crossref
Medically relevant tandem repeats in nanopore sequencing of control cohorts
De Coster W, Höijer I, Bruggeman I, ..., Ameur A, Rademakers R
- - (-) - [2024-03-14; online 2024-03-14]
DOI Crossref
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Eisfeldt J, Ameur A, Lenner F, ..., Feuk L, Lindstrand A
- - (-) - [2023-12-17; online 2023-12-17]
PubMed DOI Crossref
Long-read whole-genome analysis of human single cells.
Hård J, Mold JE, Eisfeldt J, ..., Michaëlsson J, Ameur A
Nat Commun 14 (1) 5164 [2023-08-24; online 2023-08-24]
PubMed DOI Crossref
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K, Nilsson D, Thonberg H, ..., Eisfeldt J, Lindstrand A
PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]
PubMed DOI Crossref
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.
Lazarian G, Leroy B, Theves F, ..., Soussi T, French Innovative Leukemia Organization (FILO)
Hum. Mutat. 2023 (-) 4880113 [2023-05-09; online 2023-05-09]
DOI Crossref
A complete digital karyotype of the B-cell leukemia REH cell line resolved by long-read sequencing
Wiklander ML, Arvidsson G, Bunikis I, ..., Ameur A, Nordlund J
- - (-) - [2023-03-10; online 2023-03-10]
PubMed DOI Crossref
Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas.
Weishaupt H, Čančer M, Rosén G, ..., Ameur A, Swartling FJ
Neuro-oncology 25 (1) 97-107 [2023-01-05; online 2022-06-24]
PubMed DOI Crossref
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Z, Emmerich A, Pillon NJ, ..., Loos RJF, Hoed MD
Nat. Genet. 54 (9) 1332-1344 [2022-09-00; online 2022-09-07]
PubMed DOI Crossref
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 188 (6) 1676-1687 [2022-06-00; online 2022-02-15]
PubMed DOI Crossref
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations.
Höijer I, Emmanouilidou A, Östlund R, ..., den Hoed M, Ameur A
Nat Commun 13 (1) 627 [2022-02-02; online 2022-02-02]
PubMed DOI Crossref
Author Correction: Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP
Nat Commun 13 (1) 191 [2022-01-05; online 2022-01-05]
DOI Crossref
Physical activity and sedentary behavior; mechanistic insights and role in disease prevention
Hoed Md, Wang Z, Emmerich A, ..., Thomis M, Loos R
- - (-) - [2021-12-16; online 2021-12-16]
DOI Crossref
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
Höijer I, Emmanouilidou A, Östlund R, ..., den Hoed M, Ameur A
- - (-) - [2021-10-05; online 2021-10-05]
PubMed DOI Crossref
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.
Ilumäe AM, Post H, Flores R, ..., Rootsi S, Villems R
Eur. J. Hum. Genet. 29 (10) 1510-1519 [2021-10-00; online 2021-05-07]
DOI Crossref
Long-read whole genome analysis of human single cells
Hård J, Mold JE, Eisfeldt J, ..., Michaëlsson J, Ameur A
- - (-) - [2021-04-13; online 2021-04-13]
PubMed DOI Crossref
Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes.
Fatima N, Petri A, Gyllensten U, Feuk L, Ameur A
Genes (Basel) 11 (12) - [2020-11-30; online 2020-11-30]
PubMed DOI Crossref
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting.
Madsen EB, Höijer I, Kvist T, Ameur A, Mikkelsen MJ
Hum. Mutat. 41 (9) 1671-1679 [2020-09-00; online 2020-06-29]
PubMed DOI Crossref
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach.
von der Heyde B, Emmanouilidou A, Mazzaferro E, ..., Brooke HL, den Hoed M
Sci Rep 10 (1) 11831 [2020-07-16; online 2020-07-16]
PubMed DOI Crossref
SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.
Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS
Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]
PubMed DOI Crossref
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP
Nat Commun 11 (1) 1842 [2020-04-15; online 2020-04-15]
DOI Crossref
Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts
Zaghlool A, Niazi A, Björklund ÅK, ..., Ameur A, Feuk L
- - (-) - [2020-04-08; online 2020-04-08]
PubMed DOI Crossref
Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis.
Nunes L, Aasebø K, Mathot L, ..., Sjöblom T, Glimelius B
Acta Oncol 59 (4) 417-426 [2020-04-00; online 2020-01-10]
DOI Crossref
Amplification-free long read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
Höijer I, Johansson J, Gudmundsson S, ..., Gyllensten U, Ameur A
- - (-) - [2020-02-09; online 2020-02-09]
PubMed DOI Crossref
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M, Lacaze P, Rath EM, ..., Dinger ME, Thomas DM
Nat Commun 11 (1) 435 [2020-01-23; online 2020-01-23]
PubMed DOI Crossref
Goodbye reference, hello genome graphs.
Ameur A
Nat. Biotechnol. 37 (8) 866-868 [2019-08-00; online 2019-08-04]
PubMed DOI Crossref
The Versatility of SMRT Sequencing.
Hestand MS, Ameur A
Genes (Basel) 10 (1) - [2019-01-04; online 2019-01-04]
PubMed DOI Crossref
Expression profiling and in situ screening of circular RNAs in human tissues.
Zaghlool A, Ameur A, Wu C, ..., Nilsson M, Feuk L
Sci Rep 8 (1) 16953 [2018-11-16; online 2018-11-16]
PubMed DOI Crossref
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data.
Ameur A, Che H, Martin M, ..., Feuk L, Gyllensten U
Genes (Basel) 9 (10) - [2018-10-09; online 2018-10-09]
PubMed DOI Crossref
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.
Höijer I, Tsai YC, Clark TA, ..., Gyllensten U, Ameur A
Hum. Mutat. 39 (9) 1262-1272 [2018-09-00; online 2018-07-12]
DOI Crossref
De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data
Ameur A, Che H, Martin M, ..., Feuk L, Gyllensten U
- - (-) - [2018-02-18; online 2018-02-18]
DOI Crossref
High throughput expression profiling and in situ screening of circular RNAs in tissues
Zaghlool A, Ameur A, Wu C, ..., Nilsson M, Feuk L
- - (-) - [2017-08-31; online 2017-08-31]
SciLifeLab Data Centre
Publications 9.5.1