| 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 | 363 | 2014 |
| 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 | 285 | 2015 |
| 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 | 182 | 2013 |
| 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 | 93 | 2014 |
| 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 | 43 | 2015 |
| 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 | 36 | 2015 |
| 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 | 8 | 2016 |
| ADNP-Related Intellectual Disability and Autism Spectrum Disorder A Van Dijck, C Helsmoortel, G Vandeweyer, F Kooy University of Washington, Seattle, 2016 | 6 | 2016 |
| 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 | 5 | 2016 |
| On the spot: very local chromosomal rearrangements C Helsmoortel, G Vandeweyer, RF Kooy F1000 biology reports 4, 2012 | 2 | 2012 |
| 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 | | |
