Ghent University Academic Bibliography

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Your filters: cql: author="Dollfus, Helene" or (type exact bookEditor and editor="Dollfus, Helene")

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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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Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, V Drack, Arlene, Matteo Di Scipio, Ine Strubbe (UGent) , Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, et al.

(2021) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 62(15).
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The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black, [missing] ERN-EYE study group, Panagiotis Sergouniotis, Andrea Sodi, Bart Leroy (UGent) , Caroline Van Cauwenbergh (UGent) , Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena-Atienza, Klaus Rüther, Britta Baumann, Richard Bergholz, David Birch, Elfride De Baere (UGent) , Helene Dollfus, Marie T Greally, Peter Gustavsson, Christian P Hamel, et al.

(2016) SCIENTIFIC REPORTS. 6.
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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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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B Hoyng, Hélène Dollfus, John R Heckenliyely, et al.

(2011) HUMAN MUTATION. 32(12). p.1398-1406
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien Hoornaert (UGent) , Inge Vereecke (UGent) , Chantal Dewinter (UGent) , Thomas Rosenberg, Frits A Beemer, Juliaan Leroy (UGent) , Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, et al.

(2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(8). p.872-880
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Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najambadi, Andreas Walter Kuss, Wolfram Kress, Genevieve Laureys (UGent) , et al.

(2009) HUMAN MUTATION. 30(2). p.E404-E420

Academic Bibliography

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

Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

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

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

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