Onderzoeker
Nele Cosemans
- Disciplines:Maatschappelijke gezondheidszorg, Gezondheidswetenschappen, Publieke medische diensten
Affiliaties
- Laboratorium voor Genetische Epidemiologie (Afdeling)
Lid
Vanaf1 okt 2014 → 30 jun 2020 - Klinische Genetica (Afdeling)
Lid
Vanaf1 aug 2014 → 30 sep 2014
Projecten
1 - 1 of 1
- De genetica van autismespectrumstoornis: familie gebaseerd translationeel onderzoek op zeldzame variantenVanaf1 aug 2014 → 10 sep 2018Financiering: Eigen Middelen zoals patrimonium, inschrijvingsgelden, giften, ....
Publicaties
1 - 10 van 12
- 8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder(2021)
Auteurs: Nele Cosemans, Janna Pieternella Wilhelmina Maljaars, Annick Vogels, Koenraad Devriendt, Jean Steyaert, Kris Van Den Bogaert, Ilse Noens, Hilde Peeters
Pagina's: 207 - 213 - The clinical relevance of intragenic NRXN1 deletions(2020)
Auteurs: Nele Cosemans, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Els Ortibus, Eric Legius, Jeroen Breckpot, Joris Vermeesch, Hilde Peeters
Pagina's: 347 - 355 - Increased Ca2+ signaling in NRXN1a(+/-) neurons derived from ASD induced pluripotent stem cells(2019)
Auteurs: Nele Cosemans, Hilde Peeters
- The genetics of autism spectrum disorder: family based translational research on rare variants(2018)
Auteurs: Nele Cosemans, Hilde Peeters, Ilse Noens, Peter Claes
- Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing(2018)
Auteurs: Molka Kammoun, Erika Souche, Jia Ding, Nele Cosemans, Koenraad Devriendt, Jan Deprest, Joris Vermeesch
Pagina's: 654 - 663 - ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder(2018)
Auteurs: Nele Cosemans, Laura Vandenhove, Janna Pieternella Wilhelmina Maljaars, Hilde Van Esch, Koenraad Devriendt, Ilse Noens, Hilde Peeters
Pagina's: 376 - 383 - Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios(2018)
Auteurs: Nele Cosemans, Peter Claes, Nathalie Brison, Joris Vermeesch, Hilde Peeters
- CLINICAL CHARACTERISATION OF NEUREXIN1 DELETIONS AND THEIR ROLE IN NEURODEVELOPMENTAL DISORDERS(2017)
Auteurs: Jacqueline Fitzgerald, Jeremy Hall, Marianne Van Den Bree, Linh Duong, Thomas Werge, Richard Delorme, Anne-Claude Tabet, Hilde Peeters, Nele Cosemans, Ilse Noens, et al.
Pagina's: S181 - S182 - Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator(2017)
Auteurs: Nele Cosemans, Jeroen Breckpot, Thomy de Ravel de l'Argentière, Griet Van Buggenhout, Hilde Peeters, ' Lukusa-Tshilobo, Koenraad Devriendt
Pagina's: 166 - 171 - Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)
Auteurs: Nele Cosemans, Hilde Peeters
Pagina's: 515 - 526