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List of works by Céline Helsmoortel

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

ADNP-Related Intellectual Disability and Autism Spectrum Disorder

scientific article

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

scientific article published on 13 October 2014

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

scientific article published on 21 November 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

scientific article published on 16 December 2016

Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responses

scientific article published on 19 February 2020

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

scientific article published in August 2015

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

scientific article

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

scientific article published on 6 July 2016

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