Academic article

• Gladkauskas, Titas; Cristea, Ileana; Mehrasa, Roya et al. (2025). Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling. (external link)
• Weiss, Jayne S.; Rapuano, Christopher J.; Seitz, Berthold et al. (2024). IC3D Classification of Corneal Dystrophies - Edition 3. (external link)
• Aslaksen, Sigrid; Aukrust, Ingvild; Molday, Laurie et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (external link)
• Berger, Tim; Hasenfus, Andrea; Bredrup, Cecilie et al. (2024). Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy. (external link)
• Muñoz-Oreja, Mikel; Sandoval, Abigail; Bruland, Ove et al. (2024). Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. (external link)
• Cristea, Ileana; Abarca, Hugo; Christensen, Anne Elisabeth et al. (2023). A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia. (external link)
• Mehrasa, Roya; Cristea, Ileana; Bredrup, Cecilie et al. (2023). Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID). (external link)
• Gladkauskas, Titas; Bruland, Ove; Safieh, Leen Abu et al. (2023). Corneal Vascularization Associated With a Novel PDGFRB Variant. (external link)
• Rustad, Cecilie; Tveten, Kristian; Prescott, Trine et al. (2021). Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome. (external link)
• Iznardo, Helena; Bredrup, Cecilie; Bernal, Sara et al. (2021). Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. (external link)
• Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu et al. (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. (external link)
• Cristea, Ileana; Bruland, Ove; Aukrust, Ingvild et al. (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. (external link)
• Cristea, Ileana; Bruland, Ove; Rødahl, Eyvind et al. (2021). K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. (external link)
• Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (external link)
• Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie et al. (2018). A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.. (external link)
• Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer et al. (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. (external link)
• Macia, Maxence S.; Halbritter, Jan; Delous, Marion et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind (2016). Nedsatt syn hos barn og unge i Norge. (external link)
• Jansson, Ragnhild Wivestad; Berland, Siren; Bredrup, Cecilie et al. (2016). Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. (external link)
• Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie et al. (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. (external link)
• Kamma-Lorger, Christina S.; Pinali, Christian; Martínez, Juan Carlos et al. (2016). Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). (external link)
• Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni et al. (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. (external link)
• Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Weiss, Jayne S.; Møller, Hans Ulrik; Aldave, Anthony J. et al. (2015). IC3D classification of corneal dystrophies-edition 2. (external link)
• Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana et al. (2014). Ocular pterygium - digital keloid dysplasia. (external link)
• Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie et al. (2013). Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. (external link)
• Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter et al. (2011). The IC3D Classification of the Corneal Dystrophies. (external link)
• Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie et al. (2011). Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. (external link)
• Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M. et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (external link)
• Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• Bredrup, Cecilie; Stang, Espen; Bruland, Ove et al. (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (external link)
• Bredrup, Cecilie; Matejas, Verena; Barrow, Margaret et al. (2008). Ophthalmological aspects of Pierson syndrome. (external link)
• Vesterhus, Mette; Ræder, Helge; Aurlien, Harald et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (external link)
• Kjeka, Ole; Bredrup, Cecilie; Krohn, Jørgen Gitlesen (2007). Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. (external link)
• Rødahl, Eyvind; Ginderdeuren, Rita Van; Knappskog, Per et al. (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. (external link)
• Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek et al. (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. (external link)

Academic literature review

• Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie et al. (2024). Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement. (external link)
• Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter et al. (2008). The IC3D Classification of the Corneal Dystrophies. (external link)

Academic lecture

• Bredrup, Cecilie; Haugen, Olav H. (2019). Retroequatorial fixation sutures in esodeviations: Nordic experiences. (external link)
• Bredrup, Cecilie (2002). Øyesykdommer hos eldre. (external link)

Reader opinion piece

• Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind (2016). O.H. Haugen og medarbeidere svarer:. (external link)

Doctoral dissertation

• Bredrup, Cecilie (2009). Clinical and molecular aspects of congenital hereditary eye disease. (external link)

Popular scientific article

• Bredrup, Cecilie (2003). Synshemming hos barn og unge i Norge. (external link)

See a complete overview of publications in Cristin.