Ghent University Academic Bibliography

Your filters: cql: author="Chassaing, Nicolas" or (type any "bookEditor issueEditor" and editor="Chassaing, Nicolas")

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- Conference Paper
- C3
CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Münevver Burcu Cicekdal (UGent) , Fabiola Ceroni, Richard Holt, Thomas Naert (UGent) , Soeren S. Lienkamp, Elena Sorokin, Elena Semina, Nicolas Chassaing, Nicola Ragge, Elfride De Baere (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.247-247
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- Journal Article
- A1
- open access
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Fabiola Ceroni, Münevver Burcu Cicekdal (UGent) , Richard Holt, Elena Sorokina, Nicolas Chassaing, Samuel Clokie, Thomas Naert (UGent) , Lidiya V. Talbot, Sanaa Muheisen, Dorine A. Bax, et al.

(2024) NATURE COMMUNICATIONS. 15(1).
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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Lessons learned from 40 novel PIGA patients and a review of the literature

Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert (UGent) , Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, et al.

(2020) EPILEPSIA. 61(6). p.1142-1155
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Submicroscopic deletions at 13q32.1 cause congenital microcoria

Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, Hannah Verdin (UGent) , Antoine Guilloux, Juan C Zenteno, Hiroyuki Kondo, Hugo Moisset, et al.

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 96(4). p.631-639
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Acquired pseudoxanthoma elasticum presenting after liver transplantation

Lionel Bercovitch, Ludovic Martin, Nicolas Chassaing, Timothy W Hefferon, Didier Bessis, Olivier Vanakker (UGent) and Sharon F Terry

(2011) JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. 64(5). p.873-878

Academic Bibliography

CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Lessons learned from 40 novel PIGA patients and a review of the literature

Submicroscopic deletions at 13q32.1 cause congenital microcoria

Acquired pseudoxanthoma elasticum presenting after liver transplantation

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