Publications by authors named "Janne Strand"

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Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas

Int J Neonatal Screen· December 2023

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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Runar Almaas, Monica Atneosen-Åsegg, Mari Eknes Ytre-Arne, Maria Melheim, Hanne Sørmo Sorte, Janne Strand

J Hepatol· October 2023

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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C Berge

Front Immunol· April 2021

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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Janne Strand

Int J Neonatal Screen· September 2020

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T-cell Receptor Excision Circles in Newborns with Heart Defects.
Kiran A Gul, Janne Strand, Rolf D Pettersen, Henrik Brun, Tore G Abrahamsen

Pediatr Cardiol· April 2020

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Addressing RNA integrity to determine the impact of mitochondrial DNA mutations on brain mitochondrial function with age.
Wei Wang, Katja Scheffler, Ying Esbensen, Janne M Strand, James B Stewart

PLoS One· June 2015

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Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis.
Janne M Strand, Ragnhild Skinnes, Katja Scheffler, Terje Rootvelt, Berit Woldseth

Metabolism· August 2014

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The distribution of DNA damage is defined by region-specific susceptibility to DNA damage formation rather than repair differences.
Janne M Strand, Katja Scheffler, Magnar Bjørås, Lars Eide

DNA Repair (Amst)· June 2014

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Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Else Brodtkorb, Janne Strand, Paul Hoff Backe, Anne Marie Lund, Magnar Bjørås

Mol Genet Metab· August 2010

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Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells.
Pia Ø Osenbroch, Pia Auk-Emblem, Ruth Halsne, Janne Strand, Rune J Forstrøm

FEBS J· May 2009

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