Ghent University Academic Bibliography

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Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert (UGent) , Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, et al.

(2025) GENETICS IN MEDICINE. 27(7).
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- Journal Article
- A1
- open access
Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).
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- 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.
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- Journal Article
- A1
- open access
A proteogenomic atlas of the human neural retina

Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey (UGent) , Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, et al.

(2024) FRONTIERS IN GENETICS. 15.
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- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 11.
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens (UGent) , Zelia Corradi, Elfride De Baere (UGent) , Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout and Frans P.M. Cremers

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(3). p.498-507
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- Journal Article
- A1
- open access
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Zeinab Fadaie, Mubeen Khan, Marta Del Pozo‐Valero, Stéphanie S. Cornelis, Carmen Ayuso, Frans P. M. Cremers, Susanne Roosing, Rando Allikmets, Miriam Bauwens (UGent) , Mohammad Ghofrani, et al.

(2019) HUMAN MUTATION. 40(12). p.2365-2376
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- Journal Article
- A1
- open access
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Susanne Roosing, Ideke JC Lamers, Erik de Vrieze, L Ingeborgh van den Born, Stanley Lambertus, Heleen H Arts, Theo A Peters, Carel B Hoyng, Hannie Kremer, Lisette Hetterschijt, et al.

(2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(2). p.131-142
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Susanne Roosing, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere (UGent) , Rob WJ Collin, Robert K Koenekoop, Bart Leroy (UGent) , Norka van Moll-Ramirez, Hanka Venselaar, et al.

(2013) OPHTHALMOLOGY. 120(6). p.1239-1246
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Susanne Kohl, Frauke Coppieters (UGent) , Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans CC Riemslag, the European Retinal Disease Consortium, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(3). p.527-532

Academic Bibliography

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

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

A proteogenomic atlas of the human neural retina

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

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