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Anna Rohlin
Anna Rohlin
Ph. D Gothenburg University
Verifierad e-postadress på vgregion.se
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Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques
A Rohlin, J Wernersson, Y Engwall, L Wiklund, J Björk, M Nordling
Human mutation 30 (6), 1012-1020, 2009
1852009
A mutation in POLE predisposing to a multi-tumour phenotype
A Rohlin, T Zagoras, S Nilsson, U Lundstam, J Wahlström, L Hultén, ...
International journal of oncology 45 (1), 77-81, 2014
912014
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
A Rohlin, E Rambech, A Kvist, T Törngren, F Eiengård, U Lundstam, ...
Familial Cancer 16, 195-203, 2017
632017
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
A Rohlin, Y Engwall, K Fritzell, K Göransson, A Bergsten, Z Einbeigi, ...
Oncogene 30 (50), 4977-4989, 2011
592011
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
A Olkinuora, TT Nieminen, E Mårtensson, A Rohlin, A Ristimäki, ...
Genetics in Medicine 21 (8), 1868-1873, 2019
582019
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population
K Lagerstedt-Robinson, A Rohlin, C Aravidis, B Melin, M Nordling, ...
Oncology reports 36 (5), 2823-2835, 2016
562016
GREM1 and POLE variants in hereditary colorectal cancer syndromes
A Rohlin, F Eiengård, U Lundstam, T Zagoras, S Nilsson, A Edsjö, ...
Genes, Chromosomes and Cancer 55 (1), 95-106, 2016
562016
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families
G Kanter-Smoler, K Fritzell, A Rohlin, Y Engwall, B Hallberg, A Bergman, ...
BMC medicine 6, 1-14, 2008
532008
Immune checkpoint blockade and biomarkers of clinical response in non–small cell lung cancer
A Hallqvist, A Rohlin, S Raghavan
Scandinavian journal of immunology 92 (6), e12980, 2020
182020
NGS targeted screening of 100 Scandinavian patients with coronal synostosis
A Topa, A Rohlin, MK Andersson, A Fehr, L Lovmar, G Stenman, L Kölby
American journal of medical genetics Part A 182 (2), 348-356, 2020
142020
Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Gebre-Medhin S, Nordling M, Peltomäki P. Biallelic germline nonsense variant of MLH3 underlies …
A Olkinuora, TT Nieminen, E Mårtensson, A Rohlin, A Ristimäki, ...
Genet Med 21, 1868-1873, 2019
102019
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis-IL11RA is an emerging core-gene for pansynostosis
A Topa, A Rohlin, MK Andersson, A Fehr, L Lovmar, G Stenman, L Kölby
European Journal of Medical Genetics 65 (5), 104476, 2022
32022
PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data
S Abrahamsson, F Eiengård, A Rohlin, M Dávila López
BMC bioinformatics 23 (1), 59, 2022
22022
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort
S Svensson, T Zagoras, C Aravidis, MS Askmalm, E Björck, Å Borg, ...
Genes, Chromosomes and Cancer 61 (10), 585-591, 2022
12022
Identification of known and novel familial cancer genes in Swedish colorectal cancer families
HT Helgadottir, J Thutkawkorapin, A Rohlin, M Nordling, ...
International Journal of Cancer 149 (3), 627-634, 2021
12021
Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations
A Rohlin
12015
The value of genome-wide analysis in craniosynostosis
A Topa, A Rohlin, A Fehr, L Lovmar, G Stenman, P Tarnow, G Maltese, ...
Frontiers in Genetics 14, 1322462, 2024
2024
A multi-omics approach on hereditary colorectal cancer
F Eiengard, A Rohlin, R Ellegard, P Palmeback, M Rosliden, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 585-585, 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
32 Identification of predictive biomarkers of clinical response to PD-1 blockade in patients with advanced non-small cell lung cancer
N Dutta, E Eklund, L Akyürek, P Torstensson, V Sayin, A Rohlin, ...
Journal for ImmunoTherapy of Cancer 11 (Suppl 1), 2023
2023
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Artiklar 1–20