Ghent University Academic Bibliography

Journal Article
A1
open access

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jerome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(6). p.559-567

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Miscellaneous

Diaphragmatic hernia with focal megaoesophagus : an extremely rare combination

Berit Boshuizen (UGent) , Maria Josephina de Bruijn (UGent) , L. Goehring and Catherine Delesalle (UGent)

(2021) EQUINE VETERINARY EDUCATION. 33(9). p.469-472

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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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Journal Article
A1
open access

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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Journal Article
A1
open access

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 (UGent) , 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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Journal Article
A1
open access

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771

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Journal Article
A1
open access

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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Journal Article
A1
open access

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens, Stijn Van de Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213

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Journal Article
A1
open access

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Dyon Valkenburg, Caroline Van Cauwenbergh (UGent) , Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters (UGent) , Julie De Zaeytijd (UGent) , Alberta AHJ Thiadens, Caroline CW Klaver, et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(11). p.4384-4391

Academic Bibliography

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Diaphragmatic hernia with focal megaoesophagus : an extremely rare combination

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

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

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

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