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BMC Medical Genomics|December 2, 2025
Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variantMichiel Vanhooydonck, Sophie Debaenst, Eva Vanbelleghem, et al.Journal of Fish Biology|April 4, 2020
Photoconvertible fluorescent proteins: a versatile tool in zebrafish skeletal imagingJan Willem Bek, Adelbert De Clercq, Hanna De Saffel, et al.Human Molecular Genetics|October 13, 2006
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxaQirui Hu, Bart L Loeys, Paul J Coucke, et al.The Laryngoscope|April 10, 2009
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfectaFreya K R Swinnen, Els M R De Leenheer, Paul J Coucke, et al.Frontiers in Endocrinology|August 28, 2020
Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal DisordersFrancesca Tonelli, Jan Willem Bek, Roberta Besio, et al.Audiology & Neuro-Otology|March 9, 2012
Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated earsFreya K R Swinnen, Els M R De Leenheer, Paul J Coucke, et al.European Journal of Medical Genetics|June 13, 2020
New insights on the clinical variability of FKBP10 mutationsOsama H Essawi, Piyanoot Tapaneeyaphan, Sofie Symoens, et al.The Annals of Otology, Rhinology, and Laryngology|March 28, 2002
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 familyEls M R De Leenheer, Patrick L M Huygen, Paul J Coucke, et al.European Journal of Human Genetics : EJHG|August 30, 2007
Czech dysplasia metatarsal type: another type II collagen disorderKristien P Hoornaert, Ivo Marik, Kazimierz Kozlowski, et al.Orphanet Journal of Rare Diseases|October 2, 2013
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humansSofie Symoens, Fransiska Malfait, Sanne D'hondt, et al.Pageof 11