Ghent University Academic Bibliography

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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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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stephanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere (UGent) , et al.

(2020) GENETICS IN MEDICINE. 22(7). p.1235-1246
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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- Miscellaneous
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere (UGent) , et al.

(2019) bioRxiv.
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- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, Gayle B Collin, Jeremy R Charette, Stef J Letteboer, et al.

(2016) NATURE GENETICS. 48(2). p.144-151
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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 IMPG1 cause vitelliform macular dystrophies

Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Corton, Francesca Simonelli, Philippe Brabet, Gilles Labesse, et al.

(2013) AMERICAN JOURNAL OF HUMAN GENETICS. 93(3). p.571-578
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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
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Development of a genotyping microarray for Usher syndrome

Frans PM Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor WRJ Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, et al.

(2007) JOURNAL OF MEDICAL GENETICS. 44(2). p.153-160

Academic Bibliography

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

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

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

Mutations in IMPG1 cause vitelliform macular dystrophies

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

Development of a genotyping microarray for Usher syndrome

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