Associated Papers
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP et al.
Scientific Reports, 2024
Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
Ganaiem M et al.
Cells, 2022
SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
Ivashko-Pachima Y et al.
Molecular Psychiatry, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Tauopathy in the young autistic brain: novel biomarker and therapeutic target.
Grigg I et al.
Translational Psychiatry, 2020
The ADNP Syndrome and CP201 (NAP) Potential and Hope.
Gozes I
Frontiers in Neurology, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG et al.
Clinical Epigenetics, 2019
Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.
Hacohen-Kleiman G et al.
The Journal of Clinical Investigation, 2018
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
Gozes I et al.
Translational Psychiatry, 2017
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.
Gozes I et al.
Frontiers in Endocrinology, 2017
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.
Gozes I et al.
Journal of Molecular Neuroscience : Mn, 2015
Activity-dependent neuroprotective protein (ADNP): a case study for highly conserved chordata-specific genes shaping the brain and mutated in cancer.
Gozes I et al.
Journal of Alzheimer's Disease : Jad, 2015
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Vandeweyer G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C et al.
Nature Genetics, 2014