Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Giulia Ascari

Faculty of Medicine and Health Sciences > Animalarium

ORCID iD: 0000-0001-6175-6774

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- Conference Paper
- C3
Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease

Victor Lopez Soriano (UGent) , Alfredo Dueñas Rey (UGent) , Giulia Ascari (UGent) , Münevver Burcu Cicekdal (UGent) , Eva D'haene (UGent) , Quinten Mahieu (UGent) , Hanna De Saffel (UGent) , Andy Willaert (UGent) , Kris Vleminckx (UGent) , Juan Jesus Tena-Aguilar, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.39-40
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , Jo Van Dorpe (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ESHG Conference 2021, Abstracts.
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ARVO 2021, Abstracts.
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- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Tim De Pooter, Peter De Rijk, Wouter De Coster, et al.

(2020) Retina Conference 2020, Abstracts.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Tim De Pooter, Peter De Rijk, Wouter De Coster, et al.

(2020) Società Italiana Genetica Umana (SIGU 2020), Abstracts.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Mattias Van Heetvelde (UGent) , Tim De Pooter, Wouter De Coster, et al.

(2020) Genetics of Ocular Development (GoOD) meeting, Abstracts.
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- PhD Thesis
- open access
CIL-EYE : functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases

Giulia Ascari (UGent)

(2020)
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011

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