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Quinten Mahieu

Showing results (1-10 of 8) with videos related to

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Clinical Genetics|March 12, 2024
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoformMarta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, 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.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Clinical Genetics|March 12, 2024
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoformMarta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, 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.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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