Cecilie Bredrup

Haukeland University Hospital — Norway

Medicine · Health Sciences

18h-index2.4kcitations57works9.82yr avg
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Research Topics

Corneal Surgery and Treatments(15), Corneal surgery and disorders(13), Glaucoma and retinal disorders(8), Retinal Development and Disorders(7), Cell Adhesion Molecules Research(6)

Publications57 total

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview
Clinical Dysmorphology·2025
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment
European Journal of Human Genetics·2025· 1 cited
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports
Case Reports in Ophthalmology·2025Open Access
‘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
Journal of Medical Genetics·2025
Treatment Options for Alkali Burn–Induced Corneal Neovascularization: A Comparative Analysis of Two Tyrosine Kinase Inhibitors
Cornea·2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream Signaling
Human Mutation·2025Open Access
Comparative efficacy of receptor tyrosine kinase inhibitors in a mouse model of alkali burn‐induced corneal neovascularization
Acta Ophthalmologica·2025
Comparative efficacy of receptor tyrosine kinase inhibitors in a mouse model of alkali burn‐induced corneal neovascularization
Acta Ophthalmologica·2025
Functional Characterization of <i>ABCA4</i> Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies
Investigative Ophthalmology & Visual Science·2024· 1 citedOpen Access
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Journal of Medical Genetics·2024· 35 citedOpen Access
Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy
Cornea·2024· 3 cited
IC3D Classification of Corneal Dystrophies—Edition 3
Cornea·2024· 80 citedOpen Access
Elevated cholesterol in <i>ATAD3</i> mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
Brain·2024· 7 citedOpen Access
Corneal Vascularization Associated With a Novel <i>PDGFRB</i> Variant
Investigative Ophthalmology & Visual Science·2023· 5 citedOpen Access
Functional characterization of all‐trans retinoic acid‐induced differentiation factor (ATRAID)
FEBS Open Bio·2023· 3 citedOpen Access
Author response for "Functional characterization of all‐trans retinoic acid‐induced differentiation factor (&lt;scp&gt;ATRAID&lt;/scp&gt;)"
2023
A Pellino‐2 variant is associated with constitutive <scp>NLRP3</scp> inflammasome activation in a family with ocular pterygium–digital keloid dysplasia
FEBS Letters·2023· 2 citedOpen Access
Corneal neovascularization associated with a novel <scp>PDGFRB</scp> gene variant: Implications for precision medicine treatment
Acta Ophthalmologica·2022
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
American Journal of Medical Genetics Part A·2021· 9 cited
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization
FEBS Letters·2021· 4 citedOpen Access
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Frequent Co-authors

Eyvind Rødahl(32), Per M. Knappskog(19), Ove Bruland(17), Helge Boman(12), Ileana Cristea(11), Gunnar Houge(7), Anne Elisabeth Christensen Mellgren(6), Titas Gladkauskas(6), Berthold Seitz(5), Olav H. Haugen(5), Stefan Johansson(5), Laurence A. Bindoff(5), Raoul C. M. Hennekam(5), Ragnhild Wivestad Jansson(5), Tero Kivelä(4), Massimo Busin(4), Walter Lisch(4), Ingvild Aukrust(4), Siren Berland(4), Roya Mehrasa(4)