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American Journal of Medical Genetics. Part A|August 7, 2013
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrumAlexander Janssen, Mohammad J Hosen, Philippe Jeannin, et al.Disease Models & Mechanisms|October 26, 2018
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragmentsAnnekatrien Boel, Hanna De Saffel, Wouter Steyaert, et al.European Journal of Medical Genetics|March 19, 2017
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1Kathrine F Lauritsen, Dorte L Lildballe, Paul J Coucke, et al.Journal of Clinical Medicine|March 11, 2023
Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or PhenotypeMatthias Van Gils, Justin Depauw, Paul J Coucke, et al.Journal of Medical Genetics|April 6, 2021
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelinesLukas Nollet, Laurence Campens, Julie De Zaeytijd, et al.Human Mutation|August 23, 2014
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structureSofie Symoens, David J S Hulmes, Jean-Marie Bourhis, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?Olivier M Vanakker, Bart P Leroy, Leon J Schurgers, et al.Scientific Reports|January 6, 2026
A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescueOsama Essawi, Tamara Jarayseh, Piyanoot Tapaneeyaphan, et al.Current Issues in Molecular Biology|September 27, 2024
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature ReviewLisa Dangreau, Mohammad J Hosen, Julie De Zaeytijd, et al.American Journal of Human Genetics|March 13, 2003
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hipsJan Hellemans, Paul J Coucke, Andres Giedion, et al.Pageof 11