dr. Miriam Bauwens

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

ORCID iD: 0000-0003-0402-9006

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

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.
Add to list
- Journal Article
- A1
- open access
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)

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Esperanza Daal (UGent) , Mehrnaz Ghazvini, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2025) STEM CELL RESEARCH. 89.
Add to list
- Journal Article
- A1
- open access
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).
Add to list
- Journal Article
- A1
- open access
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).
Add to list
- Journal Article
- A1
- open access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye, Miriam Bauwens (UGent) , Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(4). p.808-828
Add to list
- Journal Article
- A1
- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55
Add to list
- Miscellaneous
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Ana Belén Iglesias-Romero, Erica G M Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, et al.

(2025) medRxiv.
Add to list
- Conference Paper
- C3
The retina-specific 3D genome and the impact of structural variation in inherited retinal disease

Eva D'haene (UGent) , Pedro Manuel Martínez-García, Lara Colombo (UGent) , Victor Sanchez Gaya, Alvaro Rada-Iglesias, Sarah Vergult (UGent) , Susanne Kohl, Juan Ramon Martinez-Morales, Miriam Bauwens (UGent) , Juan J Tena, et al.

(2024) XXVI Biennial Meeting of the International Society for Eye Research (ISER), Abstracts.
Add to list
- Journal Article
- A1
- open access
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele (UGent) , Lies Vantomme (UGent) , Quinten Mahieu (UGent) , et al.

(2024) GENOME BIOLOGY. 25(1).
Add to list
- Journal Article
- A1
- open access
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey, Rajarshi Mukherjee, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , Andy Willaert (UGent) and Elfride De Baere (UGent)

(2024) NATURE COMMUNICATIONS. 15(1).

Academic Bibliography

dr. Miriam Bauwens

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

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)

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

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

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

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

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

The retina-specific 3D genome and the impact of structural variation in inherited retinal disease

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

Contents

Support

Contact

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

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&gt;A, p.(E519K)

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

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

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

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

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

The retina-specific 3D genome and the impact of structural variation in inherited retinal disease

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

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)