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
ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.
D'Incal CP et al.
Autism Research : Official Journal of the International Society for Autism Research, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Transcriptomic Analysis Uncovers an Unfolded Protein Response in ADNP Syndrome.
Bieluszewska A et al.
Molecular and Cellular Biology, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP et al.
Scientific Reports, 2024
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Pascolini G et al.
American Journal of Medical Genetics. Part A, 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
Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
Levine J et al.
Journal of Molecular Neuroscience : Mn, 2024
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C et al.
Molecular Autism, 2024
NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms.
Ganaiem M et al.
Cells, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
D'Incal CP et al.
Clinical Epigenetics, 2023
Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
Ganaiem M et al.
Cells, 2022
[Analysis of clinical features and ADNP variant in a child with Helsmoortel-Van der Aa syndrome].
Shen W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 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
Proximity labeling identifies a repertoire of site-specific R-loop modulators.
Yan Q et al.
Nature Communications, 2022
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.
Krgovic D et al.
Frontiers in Molecular Neuroscience, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Tauopathy in the young autistic brain: novel biomarker and therapeutic target.
Grigg I et al.
Translational Psychiatry, 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
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A et al.
Biological Psychiatry, 2019
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
Pascolini G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Mutations in ADNP affect expression and subcellular localization of the protein.
Cappuyns E et al.
Cell Cycle (georgetown, Tex.), 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2017
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Krajewska-Walasek M et al.
American Journal of Medical Genetics. Part A, 2016