Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Thalia Van Laethem

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

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- Conference Paper
- C3
DNA sample tracking for diagnostic exome sequencing : a 1-year experience

Peter Ceulemans (UGent) , Matthias De Smet (UGent) , Tom Sante (UGent) , Gertjan Wils (UGent) , Thalia Van Laethem (UGent) , Mauro Alessio Milazzo (UGent) , Jo Vandesompele (UGent) , Frauke Coppieters (UGent) , Steve Lefever (UGent) , Brecht Guillemyn (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.962-962
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- Conference Paper
- C3
Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele (UGent) , Caroline Van Cauwenbergh, Marjolein Carron, Alfredo Dueñas Rey, Frauke Coppieters (UGent) , Toon Rosseel (UGent) , Hong Tran, Robrecht Cannoodt (UGent) , Thalia Van Laethem (UGent) , Brecht Guillemyn (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71
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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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- 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
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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- Miscellaneous
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(4).
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- Conference Paper
- C3
PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow

Frauke Coppieters (UGent) , Thalia Van Laethem (UGent) , Matthias De Smet (UGent) , Paul Coucke (UGent) , Elfride De Baere (UGent) , Kathleen Claes (UGent) , Björn Menten (UGent) , Jo Vandesompele (UGent) and Steve Lefever (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(Suppl. 2). p.1660-1661
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- Conference Paper
- C3
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Irina Balikova (UGent) , Lara Derycke (UGent) , Gabriële Holtappels (UGent) , Olga Krysko (UGent) , Thalia Van Laethem (UGent) , et al.

(2019)
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- Conference Paper
- C3
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Nina Lambrechts, Thalia Van Laethem (UGent) , Toon Rosseel (UGent) , Pietro Farinelli, David Creytens (UGent) , Irina Balikova (UGent) , Jan Gerris, Claus Bachert (UGent) , et al.

(2019) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9).
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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, et al.

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

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