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 56
- De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity(2024)
Auteurs: Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz, Cyril Mignot, Boris Keren, Bénédicte Héron, Charlotte De Bie, et al.
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability(2024)
Auteurs: Maria del Rocio Pérez Baca, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, Jennifer Kerkhof, et al.
Pagina's: 509 - 528 - Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes(2023)Volume: 31
Auteurs: Annelies Dheedene, Evelien Pouillie, Sarah Delbaere, Olivier Vanakker, Bert Callewaert, Björn Menten
Pagina's: 460 - 460 - Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India(2022)
Auteurs: Rathika D. Shenoy, Vikram Shetty, Annelies Dheedene, Björn Menten, Dechamma Pandyanda Nanjappa, Gunimala Chakraborty, Patrick Sips, Anne De Paepe, Bert Callewaert, Anirban Chakraborty
Pagina's: 1346 - 1351 - 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, Nico Callewaert, Sofie Symoens, Kelly Tilleman, Frauke Vanden Meerschaut, Annelies Dheedene, Björn Menten
Pagina's: 1678 - 1691 - MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects(2022)
Auteurs: Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.
Pagina's: 65 - 80 - Expanding the phenotype of B3GALNT2-related disorders(2022)
Auteurs: Erika D'haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy, Bert Callewaert
- 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 molecular spectrum and the neurological phenotype related to CAMTA1 variants(2021)
Auteurs: Eva Jacobs, Kathleen Brown, Melissa C. Byler, Erika D'haenens, Annelies Dheedene, Lindsay B. Henderson, Jennifer B. Humberson, Richard H. Jaarsveld, Farah Kanani, Robert Roger Lebel, et al.
Pagina's: 259 - 268 - 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