Ghent University Academic Bibliography

Your filters: cql: author="Audo, Isabelle" or (type any "bookEditor issueEditor" and editor="Audo, Isabelle")

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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55
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Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute

Giacomo Calzetti, Kerstin Schwarzwalder, Giorgia Ottonelli, Karolina Kaminska, Rupert Wolfgang Strauss, Elfride De Baere (UGent) , Bart Leroy (UGent) , Isabelle Audo, Christina Zeitz, Claus Cursiefen, et al.

(2024) OPHTHALMIC RESEARCH. 67(1). p.448-457
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, et al.

(2022) HUMAN MUTATION. 43(7). p.832-858
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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871
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Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, et al.

(2019) HUMAN MUTATION. 40(6). p.765-787
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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Nicole Weisschuh, Katarina Stingl, Isabelle Audo, Saskia Biskup, Beatrice Bocquet, Kari Branham, Marie S. Burstedt, Elfride De Baere (UGent) , Meindert J. De Vries, Irina Golovleva, et al.

(2018) HUMAN MUTATION. 39(10). p.1366-1371
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Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T Maynes, Anupreet Tumber, Thomas Wright, Shuning Li, Christelle Michiels, Christel Condroyer, Heather MacDonald, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 98(5). p.1011-1019
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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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Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

Verena Burtscher, Klaus W Schicker, Elena Novikova, Birgit Pöhn, Thomas Stockner, Christof Kugler, Anamika Singh, Christina Zeitz, Marie-Elise Lancelot, Isabelle Audo, et al.

(2014) BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES. 1838(8). p.2053-2065
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Christina Zeitz, Samuel G Jacobson, Christian P Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B Schwartz, et al.

(2013) AMERICAN JOURNAL OF HUMAN GENETICS. 92(1). p.67-75

Academic Bibliography

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Genetic testing of patients with inherited retinal diseases in the European countries : an international survey by the European Vision Institute

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness

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

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

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