Academic article

• Céline Jost; Alessandro Mussa; Jean-Emmanuel Kurtz et al. (2026). Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review. (external link)
• Sofia Douzgou Houge; Cecilie Bredrup; Ragnhild Wivestad Jansson et al. (2026). Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction. (external link)
• Yordi Michaël Bouhatous; Cecilie Bredrup; Agnes Maurer et al. (2025). 'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: Recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors. (external link)
• Ileana Cristea; Roya Mehrasa; Titas Gladkauskas et al. (2025). Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment. (external link)
• Titas Gladkauskas; Ida Marie Rundgren; Ileana Cristea et al. (2025). Treatment Options for Alkali Burn-Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors. (external link)
• Titas Gladkauskas; Ileana Cristea; Roya Mehrasa et al. (2025). Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. (external link)
• Ole Kjeka; Ragnhild Wivestad Jansson; Cecilie Bredrup et al. (2013). Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. (external link)
• Ileana Cristea; Hugo Abarca; Anne Elisabeth Christensen 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)
• Olav H. Haugen; Cecilie Bredrup; Eyvind Rødahl (2016). Nedsatt syn hos barn og unge i Norge. (external link)
• Cecilie Rustad; Kristian Tveten; Trine Prescott et al. (2021). Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome. (external link)
• Anne Elisabeth Christensen; Ove Bruland; Anni Vedeler et al. (2015). Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. (external link)
• Jayne S. Weiss; Hans Ulrik Møller; Walter Lisch et al. (2011). The IC3D Classification of the Corneal Dystrophies. (external link)
• Ragnhild Wivestad Jansson; Siren Berland; Cecilie Bredrup et al. (2016). Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. (external link)
• Ingvild Aukrust; Ragnhild Wivestad Jansson; Cecilie Bredrup 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)
• Roya Mehrasa; Ileana Cristea; Cecilie Bredrup et al. (2023). Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID). (external link)
• Cecilie Bredrup; Stefan Johansson; Laurence Bindoff et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Ole Kjeka; Ragnhild Wivestad Jansson; Cecilie Bredrup et al. (2011). Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. (external link)
• Cecilie Bredrup; Tomasz Stokowy; Julie McGaughran 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)
• Jayne S. Weiss; Christopher J. Rapuano; Berthold Seitz et al. (2024). IC3D Classification of Corneal Dystrophies - Edition 3. (external link)
• Hugo Abarca; Anne Elisabeth Christensen; Milana Trubnykova et al. (2014). Ocular pterygium - digital keloid dysplasia. (external link)
• Christina S. Kamma-Lorger; Christian Pinali; Juan Carlos Martínez et al. (2016). Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). (external link)
• Helena Iznardo; Cecilie Bredrup; Sara Bernal et al. (2021). Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. (external link)
• Cecilie Bredrup; Sophie Saunier; Machteld M. Oud et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (external link)
• Linda Zi Yan Xu; Hanne Jensen; Jennifer Johnston et al. (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. (external link)
• Cecilie Bredrup; Ileana Cristea; Leen Abu Safieh et al. (2021). Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. (external link)
• Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• Cecilie Bredrup; Per Knappskog; Jacek Majewski et al. (2005). Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. (external link)
• Sigrid Aslaksen; Ingvild Aukrust; Laurie Molday et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (external link)
• Ileana Cristea; Ove Bruland; Ingvild Aukrust et al. (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. (external link)
• Maxence S. Macia; Jan Halbritter; Marion Delous et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Josephine Prener Holtan; Ingvild Aukrust; Ragnhild Wivestad Jansson et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (external link)
• Tim Berger; Andrea Hasenfus; Cecilie Bredrup et al. (2024). Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Eyvind Rødahl; Rita Van Ginderdeuren; Per Knappskog et al. (2006). A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. (external link)
• Titas Gladkauskas; Ove Bruland; Leen Abu Safieh et al. (2023). Corneal Vascularization Associated With a Novel PDGFRB Variant. (external link)
• Ileana Cristea; Ove Bruland; Eyvind Rødahl et al. (2021). K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. (external link)
• Mikel Muñoz-Oreja; Abigail Sandoval; Ove Bruland et al. (2024). Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation. (external link)
• Ole Kjeka; Cecilie Bredrup; Jørgen Gitlesen Krohn (2007). Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. (external link)
• Cecilie Bredrup; Verena Matejas; Margaret Barrow et al. (2008). Ophthalmological aspects of Pierson syndrome. (external link)
• Mette Vesterhus; Helge Ræder; Harald Aurlien et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (external link)
• Jayne S. Weiss; Hans Ulrik Møller; Anthony J. Aldave et al. (2015). IC3D classification of corneal dystrophies-edition 2. (external link)
• Cecilie Bredrup; Espen Stang; Ove Bruland et al. (2010). Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. (external link)
• Titas Gladkauskas; Ileana Cristea; Roya Mehrasa et al. (2025). Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling. (external link)

Academic literature review

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

Conference abstract

• Laurence Bindoff; Torunn Fiskerstrand; D H'mida-Ben Brahim et al. (2010). Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. (external link)
• Ole Kjeka; Cecilie Bredrup; Ragnhild Wivelstad Jansson et al. (2008). Early panretinal photocoagulation for ischemic central retinal vein occlusion. (external link)
• Cecilie Bredrup; Rolf Bjarne Riise; Eyvind Rødahl et al. (2008). Visual impairment in children in Norway. (external link)

Conference lecture

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

Doctoral thesis (PhD)

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

Letter to the editor

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

Popular science article

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

See a complete overview of publications in NVA.