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
21 - 30 of 39
- FOXP1-related intellectual disability syndrome(2017)
Authors: Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F1 Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, et al.
Pages: 613-623 - Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator(2017)
Authors: A Lumaka, Noëmie Cosemans, A Lulebo Mampasi, G Mubungu, N Mvuama, T Lubala, S Mbuyi-Musanzayi, Jeroen Breckpot, Mathias Holvoet, Thomy de Ravel, et al.
Pages: 166-171 - Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos(2017)
Authors: Eftychia Dimitriadou, Cindy Melotte, Sophie Debrock, Masoud Zamani Esteki, Kris Dierickx, Thierry Voet, Koen Devriendt, Thomy de Ravel, Eric Legius, Karen Peeraer, et al.
Pages: 687-697 - Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies(2017)
Authors: Nathalie Brison, Kris Van den Bogaert, Luc Dehaspe, Jessica M E van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, et al.
Pages: 306-313 - Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families(2017)
Authors: Caroline van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, et al.
- Clinical implementation of NIPT - technical and biological challenges(2016)
Authors: PD Brady, Nathalie Brison, K. Bogaert, Thomy de Ravel, Haaike Peeters, Hilde Van Esch, Karel Devriendt, Eric Legius, Jan Vermeesch
Pages: 523-30 - Refinement of the critical 2p25.3 deletion region(2015)
Authors: Nina De Rocker, Sarah Vergult, David Koolen, Eva Maria I Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M H F Bongers, et al.
Pages: 460-6 - No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome(2015)
Authors: Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep C. Vasudevan, Koen Devriendt, Thomy de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, et al.
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients(2015)
Authors: Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, Susanne Kohl, Françoise Meire, Karin Dahan, Fanny Depasse, Sarah De Jaegere, Thomy de Ravel, Marjan De Rademaeker, et al.
Pages: 39-42 - Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management(2015)
Authors: Baran Bayindir, Luc Dehaspe, Nathalie Brison, Paul Brady, Simon Ardui, Molka Kammoun, Lars Van der Veken, Klaske Lichtenbelt, Kris Van den Bogaert, Jeroen K. J. Van Houdt, et al.
Pages: 1286-93