Associated Papers
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.
Harutyunyan L et al.
Brain Sciences, 2025
The ADNP-Mediated Transcriptome Response to Ketamine Impairs the Cytoskeletal Protein Axis.
D'Incal CP et al.
Journal of Molecular Neuroscience : Mn, 2025
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP et al.
Scientific Reports, 2024
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
D'Incal C et al.
Acta Neuropathologica Communications, 2024
38637827 (PubMed )
Supplement: 40478_2024_1743_MOESM1_ESM.docx
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C et al.
Molecular Autism, 2024
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.
Ivashko-Pachima Y et al.
Molecular Psychiatry, 2021
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG et al.
Clinical Epigenetics, 2019
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A et al.
Biological Psychiatry, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
Gozes I et al.
Translational Psychiatry, 2017
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP et al.
Nature Genetics, 2014
25217958 (PubMed )
Supplement: NIHMS622928-supplement-1.pdf
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