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Publications by Janne Maren Strand

11 publications found

Original articles

Hogner S, Lundman E, Strand J, Ytre-Arne ME, Tangeraas T, Stray-Pedersen A (2023)
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS
Int J Neonatal Screen, 9 (4)
DOI 10.3390/ijns9040067, PubMed 38132826

Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A (2023)
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071

Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T et al. (2020)
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152

Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (2020)
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633

Gul KA, Strand J, Pettersen RD, Brun H, Abrahamsen TG (2020)
T-cell Receptor Excision Circles in Newborns with Heart Defects
Pediatr Cardiol, 41 (4), 809-815
DOI 10.1007/s00246-020-02317-y, PubMed 32166410

Wang W, Scheffler K, Esbensen Y, Strand JM, Stewart JB, Bjørås M, Eide L (2014)
Addressing RNA integrity to determine the impact of mitochondrial DNA mutations on brain mitochondrial function with age
PLoS One, 9 (5), e96940
DOI 10.1371/journal.pone.0096940, PubMed 24819950

Strand JM, Skinnes R, Scheffler K, Rootvelt T, Woldseth B, Bjørås M, Eide L (2014)
Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis
Metabolism, 63 (8), 1063-70
DOI 10.1016/j.metabol.2014.05.003, PubMed 24928662

Strand JM, Scheffler K, Bjørås M, Eide L (2014)
The distribution of DNA damage is defined by region-specific susceptibility to DNA damage formation rather than repair differences
DNA Repair (Amst), 18, 44-51
DOI 10.1016/j.dnarep.2014.03.003, PubMed 24685126

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L (2010)
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Mol Genet Metab, 100 (4), 324-32
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198

Osenbroch PØ, Auk-Emblem P, Halsne R, Strand J, Forstrøm RJ, van der Pluijm I, Eide L (2009)
Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
FEBS J, 276 (10), 2811-21
DOI 10.1111/j.1742-4658.2009.07004.x, PubMed 19389114

Theses

Strand JM (2006)
DNA-reparasjonsenzymet 8-oksoguanin DNA glykosylase 1 (OGG1) sin rolle i forsvar mot oksidativt stress
[J.M. Strand], Oslo, 106 bl.
BIBSYS 070559406