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Molecular Therapy : the Journal of the American Society of Gene Therapy|January 20, 2024
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4Nuria Suárez-Herrera, Iris B Riswick, Irene Vázquez-Domínguez, et al.
American Journal of Human Genetics|February 5, 2022
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severityStéphanie S Cornelis, Esmee H Runhart, Miriam Bauwens, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Genome Biology|May 17, 2024
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease lociEva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
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