Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="Roosing, Susanne*" or (type exact bookEditor and editor="Roosing, Susanne*")

Add to list
- 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.
Add to list
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
Add to list
- 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
Add to list
- 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
Add to list
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
Add to list
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

Alberta AHJ Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, Bart Leroy (UGent) , L Ingeborgh van den Born, Crel B Hoyng, Caroline CW Klaver, Susanne Roosing, Jan-Willem R Pott, Mary J van Schooneveld, et al.

(2012) OPHTHALMOLOGY. 119(4). p.819-826
Add to list
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
Add to list
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Alberta AHJ Thiadens, Anneke I den Hollander, Susanne Roosing, Sander B Nabuurs, Renate C Zekveld-Vroon, Rob WJ Collin, Elfride De Baere (UGent) , Robert K Koenekoop, Mary J van Schooneveld, Tim M Strom, et al.

(2009) AMERICAN JOURNAL OF HUMAN GENETICS. 85(2). p.240-247

Academic Bibliography

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

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Contents

Support

Contact