Ghent University Academic Bibliography

Your filters: cql: author="Vermeer, Sascha" or (type any "bookEditor issueEditor" and editor="Vermeer, Sascha")

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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
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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).
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- Conference Paper
- C3
Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

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) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.94-95
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- 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.
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- Conference Paper
- C3
Novel genetic cause of specific macular dystrophy due to biallelic variants in three genes encoding subunits of the AP-5 complex

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

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.92-93
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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
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A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Stijn Van de Sompele (UGent) , Alfredo Dueñas Rey, Audrey Meunier, Thomy de Ravel, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.838-838
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Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Mahieu (UGent) , Audrey Meunier, Thomy de Ravel de l'Argentière, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.
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- C3
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah Verdin (UGent) , Toon Rosseel (UGent) , Sascha Vermeer, Irina Balikova (UGent) , Philippe Kestelyn (UGent) , Colombine Meunier, Françoise Meire (UGent) , Julie Van De Velde (UGent) , Olivier Vanakker (UGent) , Jenneke Van Den Ende, et al.

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Bert Callewaert (UGent) , Bart Loeys (UGent) , Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, et al.

(2009) HUMAN MUTATION. 30(3). p.334-341

Academic Bibliography

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

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

Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

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

Novel genetic cause of specific macular dystrophy due to biallelic variants in three genes encoding subunits of the AP-5 complex

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

A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

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