Miriam Bauwens

Gent, VLG 9000, Belgium

Last Updated: 09/26/2026

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Found 43 publications

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosa.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 03, 2026

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Journal: Human mutation

Published: October 26, 2025

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K).

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K).

Journal: Stem cell research

Published: August 05, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Journal: Research square

Published: May 19, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 29, 2024

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Journal: NPJ genomic medicine

Published: October 01, 2024

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

Showing 1-12 of 43

Last Updated: 09/26/2026