Céline Helsmoortel
Céline Helsmoortel
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Geverifieerd e-mailadres voor uantwerpen.be
TitelGeciteerd doorJaar
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380-384, 2014
1772014
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
982013
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics, 2015
862015
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
G Vandeweyer, C Helsmoortel, A Van Dijck, AT Vulto‐van Silfhout, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
552014
Challenges and opportunities in the investigation of unexplained intellectual disability using family‐based whole‐exome sequencing
C Helsmoortel, G Vandeweyer, P Ordoukhanian, F Van Nieuwerburgh, ...
Clinical genetics 88 (2), 140-148, 2015
282015
The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation
I Gozes, C Helsmoortel, G Vandeweyer, N Van der Aa, F Kooy, ...
Journal of Molecular Neuroscience, 1-7, 2015
252015
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder
C Helsmoortel, S Swagemakers, G Vandeweyer, AP Stubbs, I Palli, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 171 …, 2016
42016
ADNP-Related Intellectual Disability and Autism Spectrum Disorder
A Van Dijck, C Helsmoortel, G Vandeweyer, F Kooy
University of Washington, Seattle, 2016
32016
Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting
C Helsmoortel, RF Kooy, G Vandeweyer
The Journal of Molecular Diagnostics 18 (1), 32-38, 2016
12016
On the spot: very local chromosomal rearrangements
C Helsmoortel, G Vandeweyer, RF Kooy
F1000 biology reports 4, 2012
12012
Erratum to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
I Gozes, C Helsmoortel, G Vandeweyer, N Van der Aa, F Kooy, ...
Journal of molecular neuroscience: MN 58 (4), 535, 2016
2016
Performance assessment of targeted re-sequencing experiments using full genome sequenced cell lines
L Dehaspe, E Souche, C Helsmoortel, A Corveleyn, V Race, G Matthijs, ...
Abstract book, 159a159, 2016
2016
De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum
L Snijders-Blok, E Madsen, M Reijnders, H Venselaar, C Helsmoortel, ...
Online abstracts, 2015
2015
Afwijkingen in niet-coderende regulatorische regio’s van het MEF2C-gen als een nieuw ziekte-mechanisme bij patiënten met een Rett-like fenotype
C Helsmoortel
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Artikelen 1–14