Ghent University Academic Bibliography

Journal Article
A1
open access

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1751-1760

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Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Riccardo Sangermano, Nathalie M Bax, Miriam Bauwens (UGent) , L Ingeborgh Van den Born, Elfride De Baere (UGent) , Alejandro Garanto, Rob WJ Collin, Angelique SA Goercharn-Ramlal, Anke HA den Engelsman-van Dijk, Klaus Rohrschneider, et al.

(2016) OPHTHALMOLOGY. 123(6). p.1375-1385

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Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Laurence HM Pierrache, Bas P Hartel, Erwin van Wijk, Magda A Meester-Smoor, Frans PM Cremers, Elfride De Baere (UGent) , Julie De Zaeytijd (UGent) , Mary J van Schooneveld, Cor WRJ Cremers, Gislin Dagnelie, et al.

(2016) OPHTHALMOLOGY. 123(5). p.1151-1160

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A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

Kristof Van Schil (UGent) , B Jeroen Klevering, Bart Leroy (UGent) , Jan Willem R Pott, Dikla Bandah-Rozenfeld, Marijke N Zonneveld-Vrieling, Dror Sharon, Anneke I den Hollander, Frans PM Cremers, Elfride De Baere (UGent) , et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(12). p.7418-7426

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(1). p.230-242

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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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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

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IQCB1 Mutations in Patients with Leber Congenital Amaurosis

Alejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters (UGent) , Susanne Kohl, Irma Lopez, Rob WJ Collin, Elfride De Baere (UGent) , Debbie Roeleveld, Jonah Marek, Antje Bernd, et al.

(2011) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 52(2). p.834-839

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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Riza Köksal Özgül, Anna M Siemiatkowska, Didem Yücel, Connie A Myers, Rob WJ Collin, Marijke N Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B Hoyng, L Ingeborgh van den Born, et al.

(2011) AMERICAN JOURNAL OF HUMAN GENETICS. 89(2). p.253-264

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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

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

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

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

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

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

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