Céline Helsmoortel
Ghent University Hospital(BE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders(2013)177 cited
- → The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism(2014)81 cited
- → Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF‐mediated auxin responses(2020)65 cited
- → The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation(2015)41 cited
- → Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability(2016)37 cited
- → Challenges and opportunities in the investigation of unexplained intellectual disability using family‐based whole‐exome sequencing(2014)34 cited