Ameur A

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Family name Ameur
Given name Adam
Initials A
ORCID

ORCID 0000-0001-6085-6749
Affiliations Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden.
Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Clayton, VIC 3800, Australia.

77 publications

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]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Clinical Genomics [Collaborative] Clinical Genomics Gothenburg [Collaborative] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Clinical Genomics [Technology development] Clinical Genomics Uppsala [Technology development] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Umeå [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Short read [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, ..., Wilbe M, Bondeson ML
Eur. J. Hum. Genet. 32 (3) 333-341 [2024-03-00; online 2023-06-05]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete Mitochondrial DNA Genome Variation in the Swedish Population.
Sturk-Andreaggi K, Bodner M, Ring JD, ..., Marshall C, Allen M
Genes 14 (11) - [2023-10-25; online 2023-10-25]
NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Technology development] NGI Single cell [Technology development] NGI Stockholm (Genomics Applications) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
DOI Crossref
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots
Lazarian G, Leroy B, Theves F, ..., Baran-Marszak F, Soussi T
Hum. Mutat. 2023 (-) 1-17 [2023-05-09; online 2023-05-09]
NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes.
Sturk-Andreaggi K, Ring JD, Ameur A, ..., Marshall C, Allen M
Int J Mol Sci 23 (4) - [2022-02-17; online 2022-02-17]
Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski JP, Halvardson J, Davies H, ..., Ryś J, Forsberg LA
Cell. Mol. Life Sci. 78 (8) 4019-4033 [2021-04-00; online 2021-04-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed 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
Sci Rep 11 (1) 4076 [2021-02-18; online 2021-02-18]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Höijer I, Johansson J, Gudmundsson S, ..., Gyllensten U, Ameur A
Genome Biol. 21 (1) 290 [2020-12-01; online 2020-12-01]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
CRISPR and Long-Read Sequencing: A Perfect Match.
Ameur A
CRISPR J 3 (6) 425-427 [2020-12-00; online 2020-11-30]
NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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 11 (12) 1444 [2020-11-30; online 2020-11-30]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
BioImage Informatics [Collaborative] Bioinformatics (NBIS) [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] Genome Engineering Zebrafish [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
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]
NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service] Systems Biology [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A
Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]
Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The TGFB2-AS1 lncRNA Regulates TGF-β Signaling by Modulating Corepressor Activity.
Papoutsoglou P, Tsubakihara Y, Caja L, ..., Heldin CH, Moustakas A
Cell Rep 28 (12) 3182-3198.e11 [2019-09-17; online 2019-09-19]
NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Goodbye reference, hello genome graphs.
Ameur A
Nat. Biotechnol. 37 (8) 866-868 [2019-08-00; online 2019-08-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology.
Cui T, Enroth S, Ameur A, ..., Lindquist D, Gyllensten U
Carcinogenesis 40 (2) 269-278 [2019-04-29; online 2019-01-01]
NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
The Versatility of SMRT Sequencing.
Hestand MS, Ameur A
Genes 10 (1) - [2019-01-04; online 2019-01-04]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Single-Molecule Sequencing: Towards Clinical Applications.
Ameur A, Kloosterman WP, Hestand MS
Trends Biotechnol. 37 (1) 72-85 [2019-01-00; online 2018-08-13]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.
Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N
Eur. J. Hum. Genet. 26 (12) 1871-1874 [2018-12-00; online 2018-09-24]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
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]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] In Situ Sequencing [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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 9 (10) 486 [2018-10-09; online 2018-10-09]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]
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]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Stattin EL, Johansson J, Gudmundsson S, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 176 (6) 1405-1410 [2018-06-00; online 2018-04-16]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Ardui S, Ameur A, Vermeesch JR, Hestand MS
Nucleic Acids Res. 46 (5) 2159-2168 [2018-03-16; online 2018-02-06]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations.
Lodé L, Ameur A, Coste T, ..., Lavabre-Bertrand T, Soussi T
Haematologica 103 (1) e13-e16 [2018-01-00; online 2017-10-27]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson ML
Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, Ericson K, Gudmundsson S, ..., Frykholm C, Wilbe M
Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U
Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]
Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]
PubMed DOI Crossref
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, ..., Wikström J, Lerner UH
Sci Rep 7 (1) 3012 [2017-06-07; online 2017-06-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.
Pan G, Ameur A, Enroth S, ..., Gyllensten U, Wadelius C
Nucleic Acids Res. 45 (5) 2408-2422 [2017-03-17; online 2016-12-10]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S, Wilbe M, Ekvall S, ..., Törmä H, Bondeson ML
Hum. Mol. Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-06]
Affinity Proteomics Uppsala [Collaborative] Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Collaborative] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
Hannuksela M, Stattin EL, Klar J, ..., Sörensen K, Carlberg B
BMC Med. Genet. 17 (1) 61 [2016-09-01; online 2016-09-01]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Abstract 2688: A forward genetics screen of murine brain tumors identifies novel candidate genes involved in gliomagenesis
Cancer M, Weishaupt H, Rosen G, ..., Ameur A, Swartling FJ
Cancer Res 76 (14 Supplement) 2688-2688 [2016-07-15; online 2016-07-22]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.
Rafati N, Andersson LS, Mikko S, ..., Lindgren G, Rubin CJ
G3 (Bethesda) 6 (7) 2213-2223 [2016-07-07; online 2016-07-07]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing.
Bergfors A, Leenheer D, Bergqvist A, Ameur A, Lennerstrand J
Antiviral Res. 126 (-) 81-89 [2016-02-00; online 2015-12-19]
Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Klar J, Raykova D, Gustafson E, ..., Wanders A, Dahl N
Eur. J. Hum. Genet. 23 (12) 1679-1683 [2015-12-00; online 2015-03-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Einarsdottir E, Svensson I, Darki F, ..., Kere J, Matsson H
Hum. Genet. 134 (11-12) 1239-1248 [2015-11-00; online 2015-09-25]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.
Schuster J, Halvardson J, Pilar Lorenzo L, ..., Feuk L, Dahl N
Cell Reprogram 17 (5) 327-337 [2015-10-00; online 2015-09-08]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.
Rask-Andersen M, Sällman Almén M, Jacobsson JA, ..., Fredriksson R, Schiöth HB
Genet Res (Camb) 97 (-) e16 [2015-09-14; online 2015-09-14]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Differential Expression Analysis by RNA-Seq Reveals Perturbations in the Platelet mRNA Transcriptome Triggered by Pathogen Reduction Systems.
Osman A, Hitzler WE, Ameur A, Provost P
PLoS ONE 10 (7) e0133070 [2015-07-14; online 2015-07-14]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, ..., Annerén G, Bondeson ML
J. Med. Genet. 52 (3) 195-202 [2015-03-00; online 2015-01-22]
Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.
Cavelier L, Ameur A, Häggqvist S, ..., Olsson-Strömberg U, Hermanson M
BMC Cancer 15 (-) 45 [2015-02-12; online 2015-02-12]
Bioinformatics Support for Computational Resources [Service] Clinical Genomics Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer.
Mengelbier LH, Karlsson J, Lindgren D, ..., Mayrhofer M, Gisselsson D
Nat Commun 6 (-) 6125 [2015-01-27; online 2015-01-27]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Klar J, Hisatsune C, Baig SM, ..., Mikoshiba K, Dahl N
J. Clin. Invest. 124 (11) 4773-4780 [2014-11-00; online 2014-10-20]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects.
Ameur A, Bunikis I, Enroth S, Gyllensten U
Database (Oxford) 2014 (-) - [2014-10-03; online 2014-10-03]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Splicing in the human brain.
Zaghlool A, Ameur A, Cavelier L, Feuk L
Int. Rev. Neurobiol. 116 (-) 95-125 [2014-08-31; online 2014-08-31]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Somatic cells with a heavy mitochondrial DNA mutational load render induced pluripotent stem cells with distinct differentiation defects.
Wahlestedt M, Ameur A, Moraghebi R, ..., Woods NB, Bryder D
Stem Cells 32 (5) 1173-1182 [2014-05-00; online 2014-01-22]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Comprehensive profiling of the vaginal microbiome in HIV positive women using massive parallel semiconductor sequencing.
Ameur A, Meiring TL, Bunikis I, ..., Williamson AL, Gyllensten U
Sci Rep 4 (-) 4398 [2014-03-18; online 2014-03-18]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.
Zaghlool A, Ameur A, Nyberg L, ..., Cavelier L, Feuk L
BMC Biotechnol. 13 (-) 99 [2013-11-13; online 2013-11-13]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Transcription factor ZBED6 affects gene expression, proliferation, and cell death in pancreatic beta cells.
Wang X, Jiang L, Wallerman O, ..., Andersson L, Welsh N
Proc. Natl. Acad. Sci. U.S.A. 110 (40) 15997-16002 [2013-10-01; online 2013-09-16]
NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Klar J, Sobol M, Melberg A, ..., Casar-Borota O, Dahl N
Hum. Mutat. 34 (4) 572-577 [2013-04-00; online 2013-01-26]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.
Sällman Almén M, Rask-Andersen M, Jacobsson JA, ..., Fredriksson R, Schiöth HB
Int J Obes (Lond) 37 (3) 424-431 [2013-03-00; online 2012-04-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia.
Mansouri L, Gunnarsson R, Sutton LA, ..., Gyllensten U, Rosenquist R
Am. J. Hematol. 87 (7) 737-740 [2012-07-00; online 2012-06-03]
Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors.
Edlund K, Larsson O, Ameur A, ..., Botling J, Soussi T
Proc. Natl. Acad. Sci. U.S.A. 109 (24) 9551-9556 [2012-06-12; online 2012-05-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
Ameur A, Enroth S, Johansson A, ..., Campbell H, Gyllensten U
Am. J. Hum. Genet. 90 (5) 809-820 [2012-05-04; online 2012-04-12]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
Zaboli G, Ameur A, Igl W, ..., Gyllensten U, EUROSPAN Consortium
Eur. J. Hum. Genet. 20 (1) 77-83 [2012-01-00; online 2011-08-03]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.
Ameur A, Zaghlool A, Halvardson J, ..., Cavelier L, Feuk L
Nat. Struct. Mol. Biol. 18 (12) 1435-1440 [2011-11-06; online 2011-11-06]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.
Ameur A, Stewart JB, Freyer C, ..., Larsson NG, Gyllensten U
PLoS Genet. 7 (3) e1002028 [2011-03-00; online 2011-03-24]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.
Wetterbom A, Ameur A, Feuk L, Gyllensten U, Cavelier L
Genome Biol. 11 (7) R78 [2010-07-23; online 2010-07-23]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Global and unbiased detection of splice junctions from RNA-seq data.
Ameur A, Wetterbom A, Feuk L, Gyllensten U
Genome Biol. 11 (3) R34 [2010-03-17; online 2010-03-17]
NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
SciLifeLab Data Centre
Publications 9.5.1