Associated Papers
Clinical and Genetic Characterization of Patients with ADNP Related Helsmoortel-Van der Aa Syndrome.
Kafley P et al.
Indian Journal of Pediatrics, 2026
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.
Harutyunyan L et al.
Brain Sciences, 2025
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN et al.
World Journal of Clinical Pediatrics, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 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
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Künzel R et al.
International Journal of Obesity (2005), 2025
ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation.
Shapira G et al.
Molecular Psychiatry, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Scaccini S et al.
Neurogenetics, 2025
Transcriptomic Analysis Uncovers an Unfolded Protein Response in ADNP Syndrome.
Bieluszewska A et al.
Molecular and Cellular Biology, 2025
Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.
Blázquez A et al.
Frontiers in Psychiatry, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Expanding GABAergic Neuronal Diversity in iPSC-Derived Disease Models.
Hu R et al.
Biorxiv : the Preprint Server for Biology, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
Buxbaum Grice AS et al.
Translational Psychiatry, 2024
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP et al.
Scientific Reports, 2024
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 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
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
Neuhaus E et al.
Journal of Neurodevelopmental Disorders, 2024
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
Grice ASB et al.
Medrxiv : the Preprint Server for Health Sciences, 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
The genetic landscape of autism spectrum disorder in the Middle Eastern population.
Al-Sarraj Y et al.
Frontiers in Genetics, 2024
NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms.
Ganaiem M et al.
Cells, 2023
A novel genomic mutation in ADNP leading to intellectual disability.
Gozes I
European Journal of Human Genetics : Ejhg, 2023
Adnp-mutant mice with cognitive inflexibility, CaMKIIα hyperactivity, and synaptic plasticity deficits.
Cho H et al.
Molecular Psychiatry, 2023
A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.
Gozes I et al.
The European Journal of Neuroscience, 2023
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
D'Incal CP et al.
Clinical Epigenetics, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ et al.
Nature Medicine, 2023
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Allred ET et al.
Frontiers in Pediatrics, 2023
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
Zhang Y et al.
Frontiers in Genetics, 2023
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
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
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
Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies.
Karmon G et al.
Biological Psychiatry, 2022
Proximity labeling identifies a repertoire of site-specific R-loop modulators.
Yan Q et al.
Nature Communications, 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
Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
Hadar A et al.
Molecular Psychiatry, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021