Ghent University Academic Bibliography

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Your filters: cql: author="Gomez-Skarmeta, Jose Luis" or (type exact bookEditor and editor="Gomez-Skarmeta, Jose Luis")

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- Conference Paper
- C3
Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haene (UGent) , Pedro Manuel Martinez-Garcia, Victor Lopez Soriano (UGent) , Soraya Kalayanamontri, Alfredo Dueñas Rey (UGent) , Lies Vantomme (UGent) , Sarah Vergult (UGent) , Ana Bastos Neto, José Luis Gomez-Skarmeta, Juan Ramon Martinez-Morales, et al.

(2023) EMBO Workshop 'Enhanceropathies : Understanding enhancer function to understand human disease', Abstracts.
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- Miscellaneous
- open access
Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey (UGent) , Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele (UGent) , Lies Vantomme (UGent) , Quinten Mahieu (UGent) , et al.

(2023)
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- Miscellaneous
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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- Conference Paper
- C3
Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens (UGent) , Riccardo Sangermano, Timothy Cherry, Caroline Van Cauwenbergh (UGent) , Jose Luis Gomez-Skarmeta, Nicole Weisschuh, Susanne Kohl, Bart Leroy (UGent) , Frans Cremers and Elfride De Baere (UGent)

(2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(8).
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- Conference Paper
- C3
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah Verdin (UGent) , Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Kathleen De Waele (UGent) , Jean De Schepper (UGent) , Inge François, Björn Menten (UGent) , Karen Heath, et al.

(2016) Research day Faculty of Medicine and Health Sciences, Abstracts.
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- Conference Paper
- C3
Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah Verdin (UGent) , Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Kathleen De Waele (UGent) , Jean De Schepper (UGent) , Inge François, Björn Menten (UGent) , José Luis Gómez-Skarmeta, et al.

(2015) Genomics of Rare Diseases : Beyond the Exome, Conference abstracts.
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- Conference Paper
- C3
Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah Verdin (UGent) , Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Kathleen De Waele (UGent) , Jean De Schepper (UGent) , Inge François, Björn Menten (UGent) , Karen Heath, et al.

(2015) Belgian Society of Human Genetics, 15th Annual meeting, Abstracts.
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah Verdin (UGent) , Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Kathleen De Waele (UGent) , Jean De Schepper (UGent) , Inge François, Björn Menten (UGent) , Karen E Heath, et al.

(2015) SCIENTIFIC REPORTS. 5.
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- Conference Paper
- C3
Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah Verdin (UGent) , Ana Fernández-Miñán, Kim De Leeneer (UGent) , Liza Borms, Sandra Janssens (UGent) , Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Ariana Kariminejad, Kathleen De Waele (UGent) , Inge François, et al.

(2014) Translational genetics : from cage over bench to bed.

Academic Bibliography

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

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