Ghent University Academic Bibliography

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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
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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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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(2). p.321-330
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Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle Audo, Olivier Vanakker (UGent) , Alaric Smith, Bart Leroy (UGent) , Anthony G Robson, Sharon A Jenkins, Paul Coucke (UGent) , Alan C Bird, Anne De Paepe (UGent) , Graham E Holder, et al.

(2007) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 48(9). p.4250-4256

Academic Bibliography

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

Mutations in IMPG1 cause vitelliform macular dystrophies

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

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