Ghent University Academic Bibliography

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The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe (UGent) , et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722
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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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CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up

Mays Talib, Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , David Van Wynsberghe, Elfride De Baere (UGent) , Camiel J F Boon and Bart Leroy (UGent)

(2021) BRITISH JOURNAL OF OPHTHALMOLOGY. 106(5). p.696-704
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Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh (UGent) , Jacoline B. ten Brink, Elfride De Baere (UGent) , Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy (UGent) , Arthur A. Bergen, et al.

(2019) TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 8(4).
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Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van Schil (UGent) , Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Bart Leroy (UGent) , Fanny Depasse, Thomas Langmann and Elfride De Baere (UGent)

(2016) SCIENTIFIC REPORTS. 18.
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Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

Debra A Thompson, Robin R Ali, Eyal Banin, Kari E Branham, John G Flannery, David M Gamm, William W Hauswirth, John R Heckenlively, Alessandro Iannaccone, K Thiran Jayasundera, et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(2). p.918-931
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Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

Frauke Coppieters (UGent) , Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert (UGent) , Marieke De Bruyne (UGent) , Caroline Van Cauwenbergh (UGent) , Hannah Verdin (UGent) , Miriam Bauwens (UGent) , Maté Ongenaert (UGent) , Mineo Kondo, et al.

(2015) HUMAN MUTATION. 36(12). p.1188-1196
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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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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Susanne Roosing, Ideke JC Lamers, Erik de Vrieze, L Ingeborgh van den Born, Stanley Lambertus, Heleen H Arts, Theo A Peters, Carel B Hoyng, Hannie Kremer, Lisette Hetterschijt, et al.

(2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(2). p.131-142
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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters (UGent) , Kristof Van Schil (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , Annelies De Jaegher (UGent) , Delfien Syx (UGent) , Tom Sante (UGent) , Steve Lefever (UGent) , Nouha Bouayed Abdelmoula, Fanny Depasse, et al.

(2014) GENETICS IN MEDICINE. 16(9). p.671-680
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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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Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

Mika Asai-Coakwell, Lindsey March, Michele DuVal, Irma Lopez, Curtis R French, Jakub Famulski, Elfride De Baere (UGent) , Peter J Francis, Periasamy Sundaresan, Yves Sauvé, et al.

(2013) HUMAN MOLECULAR GENETICS. 22(7). p.1432-1442
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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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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Frauke Coppieters (UGent) , Bram De Wilde (UGent) , Steve Lefever (UGent) , Ellen De Meester (UGent) , Nina De Rocker, Caroline Van Cauwenbergh (UGent) , Filip Pattyn (UGent) , Françoise Meire, Bart Leroy (UGent) , Jan Hellemans, et al.

(2012) GENETICS IN MEDICINE. 14(6). p.576-585
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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
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The human visual cortex responds to gene therapy-mediated recovery of retinal function

Manzar Ashtari, Laura L Cyckowski, Justin F Monroe, Kathleen A Marshall, Daniel C Chung, Alberto Auricchio, Francesca Simonelli, Bart Leroy (UGent) , Albert M Maguire, Kenneth S Shindler, et al.

(2011) JOURNAL OF CLINICAL INVESTIGATION. 121(6). p.2160-2168
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CEP290, a gene with many faces : mutation overview and presentation of CEP290base

Frauke Coppieters (UGent) , Steve Lefever (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2010) HUMAN MUTATION. 31(10). p.1097-1108
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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters (UGent) , Ingele Casteels, Françoise Meire, Sarah De Jaegere (UGent) , Sally Hooghe (UGent) , Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, VALERIE MEERSSCHAUT (UGent) , et al.

(2010) HUMAN MUTATION. 31(10). p.E1709-E1766
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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
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Prevalence of AIPL1 mutations in inherited retinal degenerative disease

Melanie M Sohocki, Isabelle Perrault, Bart Leroy (UGent) , Annette M Payne, Sharola Dharmaraj, Shomi S Bhattacharya, Josseline Kaplan, Irene H Maumenee, Robert Koenekoop, Françoise Meire (UGent) , et al.

(2000) MOLECULAR GENETICS AND METABOLISM. 70(2). p.142-150

Academic Bibliography

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

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

CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up

Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

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

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

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

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

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

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

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

The human visual cortex responds to gene therapy-mediated recovery of retinal function

CEP290, a gene with many faces : mutation overview and presentation of CEP290base

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Development of a genotyping microarray for Usher syndrome

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

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