Onderzoeker
Annelies Dheedene
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf16 jul 2007 → 24 sep 2017
Publicaties
1 - 10 van 53
- GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction(2022)
Auteurs: Lisa De Witte, Lennart Raman, Machteld Baetens, Andries De Koker, Kelly Tilleman, Frauke Vanden Meerschaut, Annelies Dheedene
Pagina's: 1678 - 1691 - A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene(2022)
Auteurs: Maria del Rocio Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Bart Dermaut, Aidin Foroutan, Jennifer Kerkhof, et al.
Aantal pagina's: 1 - Expanding the phenotype of B3GALNT2-related disorders(2022)
Auteurs: Erika D'haenens, Sarah Vergult, Annelies Dheedene, R. Frank Kooy, Bert Callewaert
- Further delineation of BCAP31-linked intellectual disability : description of 17 new families with LoF and missense variants(2021)
Auteurs: S Whalen, M Shaw, C Mignot, D Héron, SC Bastaraud, CC Walti, J Liebelt, F Elmslie, P Yap, J Hurst, et al.
Pagina's: 1405 - 1417 - Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men(2021)
Auteurs: Sylvie Lierman, Annelies Tolpe, Ilse De Croo, Stefanie De Gheselle, Justine Defreyne, Machteld Baetens, Annelies Dheedene, Roos Colman, Guy T'Sjoen, Kelly Tilleman
Pagina's: 1068 - 1076 - Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data(2021)
Auteurs: Griet De Clercq, Bram Van Gaever, Lies Vantomme, Annelies Dheedene, Björn Menten
Aantal pagina's: 1 - Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations(2021)
Auteurs: Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, et al.
Pagina's: 1102 - 1108 - A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)(2021)
Auteurs: Maria del Rocio Pérez Baca, Eva Jacobs, Mareike Bauer, Melissa Bellini, Claire Beneteau, Natasha Brown, David Coman, Annelies Dheedene, Tine Duelund Hjortshøj, Maria Lascone, et al.
Aantal pagina's: 1 - A reassessment of copy number variations in congenital heart defects : picturing the whole genome(2021)
Auteurs: Ilse Meerschaut, Sarah Vergult, Annelies Dheedene, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Daniël De Wolf, Bert Callewaert
- Outcome of publicly funded nationwide first-tier noninvasive prenatal screening(2021)
Auteurs: Kris Van den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, et al.
Pagina's: 1137 - 1142