Onderzoeker
Sandra Janssens
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 sep 2021 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 sep 1996 → 24 sep 2017
Projecten
1 - 1 of 1
- Management van (vermoedelijke) schadelijke mutaties in donorconceptie: huidige praktijk, ervaringen van stakeholders, ethische analyse en aanbevelingenVanaf1 jan 2022 → HedenFinanciering: FWO Onderzoeksproject (incl. WEAVE projecten)
Publicaties
1 - 10 van 34
- Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies(2022)
Auteurs: Aude Beyens, Laure Dequeker, Hilde Brems, Sandra Janssens, Hannes Syryn, Anne DU+2019Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, et al.
- Two novel probands with Myhre syndrome identified through WES(2019)Volume: 27
Auteurs: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Björn Menten, Katrien Bonte, Tine De Backer, Sandra Janssens, Fransiska Malfait, Joseph Panzer, et al.
Pagina's: 118 - 118 - Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeU+2013phenotype correlation(2019)
Auteurs: Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, et al.
Pagina's: 764 - 765 - Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum(2019)
Auteurs: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte, Tine De Backer, Sandra Janssens, Joseph Panzer, Frank Plasschaert, Daniël De Wolf, et al.
Pagina's: 2494 - 2499 - Responsible implementation of expanded carrier screening (vol 24, pg e1, 2016)(2017)
Auteurs: Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C. Cornel, Carla G. van El, Francesca Forzano, Alison Hall, Heidi C. Howard, Sandra Janssens, Hulya Kayserili, et al.
Pagina's: 1291 - 1291 - Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability(2017)
Auteurs: Ilse M. van der Werf, Anke Van Dijck, Edwin Reyniers, Celine Helsmoortel, Ajay Anand Kumar, Vera M. Kalscheuer, Arjan P. M. de Brouwer, Tjitske Kleefstra, Hans van Bokhoven, Geert Mortier, et al.
Pagina's: 92 - 98 - The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients(2016)
Auteurs: Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, et al.
Pagina's: 71 - 76 - 47 patients with FLNA associated periventricular nodular heterotopia(2015)
Auteurs: Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, et al.
- Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations(2015)
Auteurs: Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, Antonio Toscano, Corrado Angelini, et al.
Pagina's: 533 - 541 - Erfelijkheid(2014)
Auteurs: Bart Dermaut, Sandra Janssens, Ariane Van Tongerloo, Anne De Paepe, Annemie Janssens, Marjolein De Vugt
Pagina's: 87 - 98