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Genetic screening of children with suspected inherited bleeding disorders.
Andersson NG, Rossing M, Fager Ferrari M, Gabrielaite M, Leinøe E, Ljung R, Mårtensson A, Norström E, Zetterberg E. Andersson NG, et al. Among authors: gabrielaite m. Haemophilia. 2020 Mar;26(2):314-324. doi: 10.1111/hae.13948. Epub 2020 Feb 26. Haemophilia. 2020. PMID: 32100410
A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.
Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, Kinalis S, Madsen MB, Kodama M, Demircan GS, Simonyan A, Yde CW, Olsen LR, Marvig RL, Østrup O, Rossing M, Nielsen FC, Winther O, Bagger FO. Gabrielaite M, et al. Cancers (Basel). 2021 Dec 14;13(24):6283. doi: 10.3390/cancers13246283. Cancers (Basel). 2021. PMID: 34944901 Free PMC article.
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB, Nazaryan-Petersen L, Gabrielaite M, Reekie J, Marquart HV, Hartling HJ, Marvig RL, Katzenstein TL, Masmas TN, Lundgren J, Murray DD, Helleberg M, Borgwardt L. Mørup SB, et al. Among authors: gabrielaite m. Front Immunol. 2022 Jun 30;13:906328. doi: 10.3389/fimmu.2022.906328. eCollection 2022. Front Immunol. 2022. PMID: 35874679 Free PMC article. Review.
Persistence and genetic adaptation of Pseudomonas aeruginosa in patients with chronic obstructive pulmonary disease.
Eklöf J, Misiakou MA, Sivapalan P, Armbruster K, Browatzki A, Nielsen TL, Lapperre TS, Andreassen HF, Janner J, Ulrik CS, Gabrielaite M, Johansen HK, Jensen A, Nielsen TV, Hertz FB, Ghathian K, Calum H, Wilcke T, Seersholm N, Jensen JS, Marvig RL. Eklöf J, et al. Among authors: gabrielaite m. Clin Microbiol Infect. 2022 Jul;28(7):990-995. doi: 10.1016/j.cmi.2022.01.017. Epub 2022 Feb 3. Clin Microbiol Infect. 2022. PMID: 35124256 Free article. Clinical Trial.
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC. Bertelsen B, et al. Among authors: gabrielaite m. NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019. NPJ Genom Med. 2019. PMID: 31263571 Free PMC article.
20 results