Ghent University Academic Bibliography

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- Conference Paper
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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 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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- 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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- 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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- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176
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- Journal Article
- A1
- open access
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem Mohammed (UGent) , Gavin Arno, Julie De Zaeytijd (UGent) , Hannah Verdin (UGent) , Irina Balikova (UGent) , Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.

(2020) SCIENTIFIC REPORTS. 10(1).
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- 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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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1751-1760
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- Conference Paper
- C3
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem Mohammed (UGent) , Gavin Arno, Julie De Zaeytijd (UGent) , Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy (UGent) , Tony Moore and Elfride De Baere (UGent)

(2016) Belgian Society of Human Genetics (BeSHG) and the Nederlandse Vereniging voor Humane Genetica (NVHG), 1st Joint meeting, Abstract book.
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- Conference Paper
- C3
Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Basamat Almoallem Mohammed (UGent) , Gavin Arno, Julie De Zaeytijd (UGent) , Sarah Hull, Martina Suzani, Thomy JL de Ravel, Andrew Webster, Bart Leroy (UGent) , Tony Moore and Elfride De Baere (UGent)

(2016) Pro Retina, Research colloquium, Abstracts.

Academic Bibliography

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

New variants and in silico analyses in GRK1 associated Oguchi disease

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

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

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

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