Ghent University Academic Bibliography

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
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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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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Galuh DN Astuti, Vincent Sun, Miriam Bauwens (UGent) , Ditta Zobor, Bart Leroy (UGent) , Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, et al.

(2015) MOLECULAR GENETICS & GENOMIC MEDICINE. 3(1). p.14-29
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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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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, Yar Muhammad Khan, Maleeha Azam, Nadia Khalida Waheed, Christian P Hamel, Tamar Ben-Yosef, Elfride De Baere (UGent) , Robert K Koenekoop, et al.

(2014) JOURNAL OF MEDICAL GENETICS. 51(7). p.444-448
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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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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, et al.

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Alejandro Estrada-Cuzcano, Kornelis Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(1). p.102-109
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere (UGent) , Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al.

(2012) ARCHIVES OF OPHTHALMOLOGY. 130(11). p.1425-1432

Academic Bibliography

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

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

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

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

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

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