Researcher
Thomy de Ravel
- Keywords:Medicine
Affiliations
- Medical Genetics (Department)
Member
From1 Nov 2018 → Today - Clinical sciences (Department)
Member
From1 Dec 2020 → Today - Clinical sciences (Department)
Member
From1 Dec 2020 → 20 Oct 2022
Publications
11 - 20 of 39
- Next-generation sequencing in prenatal setting(2020)
Authors: Berardo Rinaldi, Valerie Race, Anniek Corveleyn, Evelien Van Hoof, Marijke Bauters, Kris Van den Bogaert, Ellen Denayer, Thomy de Ravel, Eric Legius, Marcella Baldewijns, et al.
- BCAP31-related syndrome: The first de novo report(2020)
Authors: Berardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, Annick Van Cauter, Thomy de Ravel
- The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56(2020)
Authors: Basamat AlMoallem, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.
- Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening(2019)
Authors: Nathalie Brison, Jazz Storms, Darine Villela, Kristl G Claeys, Luc Dehaspe, Thomy de Ravel, Liesbeth De Waele, Nathalie Goemans, Eric Legius, Hilde Peeters, et al.
Pages: 2774-2780 - Neurofibromatosis type 1-related pseudarthrosis(2019)
Authors: Carlijn Brekelmans, Silke Hollants, Caroline De Groote, Natalie Sohier, Marina Maréchal, Liesbet Geris, Frank P Luyten, Lieve Ginckels, Raf Sciot, Thomy de Ravel, et al.
Pages: 1760-1767 - Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene(2019)
Authors: Julia Felden, Britta Baumann, Manir Ali, Isabelle Audo, Carmen Ayuso, Beatrice Bocquet, Ingele Casteels, Blanca Garcia-Sandoval, Samuel G Jacobson, Bernhard Jurklies, et al.
Pages: 1145-1155 - Where are the missing gene defects in inherited retinal disorders?(2019)
Authors: Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, et al.
Pages: 765-787 - Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M(2018)
Authors: Aspasia Destouni, Eftychia Dimitriadou, Heleen Masset, Sophie Debrock, Cindy Melotte, Kris Van den Bogaert, Masoud Zamani Esteki, Jia Ding, Thiery Voet, Ellen Denayer, et al.
Pages: 2302-2311 - Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing(2018)
Authors: Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, et al.
Pages: 258-266 - Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing(2018)
Authors: Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch