Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
paper
Cited
Public
Unavailable
- Authors
- Durand, Christelle M; Betancur, Catalina; Boeckers, Tobias M; Bockmann, Juergen; Chaste, Pauline; Fauchereau, Fabien; Nygren, Gudrun; Rastam, Maria; Gillberg, I Carina; AnckarsΓ€ter, Henrik; Sponheim, Eili; Goubran-Botros, Hany; Delorme, Richard; Chabane, Nadia; Mouren-Simeoni, Marie-Christine; de Mas, Philippe; Bieth, Eric; RogΓ©, Bernadette; HΓ©ron, Delphine; Burglen, Lydie; Gillberg, Christopher; Leboyer, Marion; Bourgeron, Thomas
- Year
- 2007
- Journal
- Nature genetics
- PMID
- 17173049
- DOI
- 10.1038/ng1933
- PMCID
- PMC2082049
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Disrupted Development of the mPFC-Thalamic Circuit in Shank3<sup>-/-</sup> mice, an autism-associated model. | Devienne G et al. | β | 2026 | β |
| Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models. | Choudhary A et al. | β | 2026 | β |
| Genetically Modified Primate Models for Brain Disorder Research. | Yang Y et al. | β | 2026 | β |
| Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice - can it explain the behavioral regression in Autism? | Qiao SN et al. | β | 2026 | β |
| Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases. | Neklyudova A et al. | β | 2026 | β |
| Oxytocinergic Signaling in Zebrafish: Translational Perspectives for Autism Spectrum Disorder. | Peres G et al. | β | 2026 | β |
| POSH undergoes phase separation and co-condensation with SHANK2/3 to regulate spine development. | Yao M et al. | β | 2026 | β |
| Recent advances in the neurogenomics of autism spectrum disorder. | Gogate A et al. | β | 2026 | β |
| SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study. | Pagano J et al. | β | 2026 | β |
| Shank3 related oligodendrocyte alterations in autism are restored by Erk pathway inhibition. | Ma Y et al. | β | 2026 | β |
| Advancements in autism spectrum disorder research --from mechanisms to interventions. | Qiu Z | β | 2025 | β |
| A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome. | Lin V et al. | β | 2025 | β |
| Autism spectrum disorder and the role of nuclear hormone receptors: insights and therapeutic implications. | Chintalapally S et al. | β | 2025 | β |
| Autism spectrum disorder genetics; a comprehensive review. | Mashayekhi F et al. | β | 2025 | β |
| Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways. | D'Mello SR | β | 2025 | β |
| Cerebral blood flow changes and their genetic mechanisms in autism spectrum disorder: a combined neuroimaging and transcriptome study. | Ye F et al. | β | 2025 | β |
| Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution. | Murry JB et al. | β | 2025 | β |
| Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome. | Chorin O et al. | β | 2025 | β |
| Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study. | Selvanayagam T et al. | β | 2025 | β |
| Comprehensive behavioral characterization and impaired hippocampal synaptic transmission in R1117X Shank3 mutant mice. | Gao J et al. | β | 2025 | β |
| Deciphering the Role of Shank3 in Dendritic Morphology and Synaptic Function Across Postnatal Developmental Stages in the Shank3B KO Mouse. | Yang J et al. | β | 2025 | β |
| Deficiency of Shank3 in the nucleus accumbens reveals a loss of social-specific motivation. | Folkes OM et al. | β | 2025 | β |
| Disentangling the role of tau pathology in autism spectrum disorders. | Villavicencio-Tejo F et al. | β | 2025 | β |
| DNA methylation profiles of transgenerational rat hyperactivity primed by silver nanoparticles: Comparison with valproate model rats of autism. | Ishido M et al. | β | 2025 | β |
| Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice. | Kawamura A et al. | β | 2025 | β |
| Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through Ξ²-Catenin signaling. | Kim YE et al. | β | 2025 | β |
| Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes Beyond <i>SHANK3</i>. | Nevado J et al. | β | 2025 | β |
| Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders. | Ham A et al. | β | 2025 | β |
| LYCEUM: learning to call copy number variants on low-coverage ancient genomes. | YΔ±lmaz MA et al. | β | 2025 | β |
| Molecular and Genetic Mechanisms in Autism Spectrum Disorder. | Pruitt A et al. | β | 2025 | β |
| Molecular Pathways, Neural Circuits and Emerging Therapies for Self-Injurious Behaviour. | Zhang K et al. | β | 2025 | β |
| Neural connections and molecular mechanisms underlying motor skill deficits in genetic models of autism spectrum disorders. | Duan J et al. | β | 2025 | β |
| Optimal dosage of group-based organized physical activity for enhancing social abilities in autistic children: insights from a multilevel meta-analysis. | He J et al. | β | 2025 | β |
| Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine. | Nevado J et al. | β | 2025 | β |
| Pre-existing DNA methylation signatures in the prefrontal cortex of alcohol-naΓ―ve nonhuman primates define neural vulnerability for future risky ethanol consumption. | Cervera-Juanes RP et al. | β | 2025 | β |
| Reduced Neurite Arborization in Primary Dopaminergic Neurons in Autism-Like Shank3B-Deficient Mice. | Bacova Z et al. | β | 2025 | β |
| Sex-dependent differences in the ability of nicotine to modulate discrimination learning and cognitive flexibility in mice. | Aomine Y et al. | β | 2025 | β |
| Sex-differentiated placental methylation and gene expression regulation has implications for neonatal traits and adult diseases. | Tekola-Ayele F et al. | β | 2025 | β |
| Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity. | Jia B et al. | β | 2025 | β |
| Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder. | Srinath S et al. | β | 2025 | β |
| Systems Genetics Reveals the Gene Regulatory Mechanisms of <i>Arrb2</i> in the Development of Autism Spectrum Disorders. | Xia J et al. | β | 2025 | β |
| The multifaceted role of mitochondria in autism spectrum disorder. | Khaliulin I et al. | β | 2025 | β |
| 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. | Granocchio E et al. | β | 2024 | β |
| A Genetic Bridge Between Medicine and Neurodiversity for Autism. | Leblond CS et al. | β | 2024 | β |
| Animal Models of Autistic-like Behavior in Rodents: A Scoping Review and Call for a Comprehensive Scoring System. | Ornoy A et al. | β | 2024 | β |
| A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. | Savage MC et al. | β | 2024 | β |
| Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing. | Shiota Y et al. | β | 2024 | β |
| Behavioral and Psychiatric Disorders in Syndromic Autism. | Genovese AC et al. | β | 2024 | β |
| Behavioral decline in Shank3<sup>Ξex4-22</sup> mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes. | Kshetri R et al. | β | 2024 | β |
| Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome. | Gizzo L et al. | β | 2024 | β |
| Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency. | Delling JP et al. | β | 2024 | β |
| Conditional knockout of Shank3 in the ventral CA1 by quantitative in vivo genome-editing impairs social memory in mice. | Chung M et al. | β | 2024 | β |
| Cortical <i>miR-709</i> links glutamatergic signaling to NREM sleep EEG slow waves in an activity-dependent manner. | Kompotis K et al. | β | 2024 | β |
| Decoding the genetic landscape of autism: A comprehensive review. | Al-Beltagi M et al. | β | 2024 | β |
| Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. | Lyu TJ et al. | β | 2024 | β |
| Developmental Disruptions of the Dorsal Striatum in Autism Spectrum Disorder. | Evans MM et al. | β | 2024 | β |
| Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development. | Cesari E et al. | β | 2024 | β |
| ECOLE: Learning to call copy number variants on whole exome sequencing data. | Mandiracioglu B et al. | β | 2024 | β |
| Effect of Enriched Environment on Cerebellum and Social Behavior of Valproic Zebrafish. | Flores-Prieto B et al. | β | 2024 | β |
| EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development. | Juan CX et al. | β | 2024 | β |
| Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of <i>NR3C1, ASCL1</i>, and <i>FOXO3</i> in Korean Autism Spectrum Disorder Sibling Pairs. | Oh M et al. | β | 2024 | β |
| Etiologies underlying sex bias in autism spectrum disorder: a narrative review of preclinical rodent models. | Lee T et al. | β | 2024 | β |
| Identifying dysfunctional cell types and circuitsΒ in animal models for psychiatric disorders with calcium imaging. | Gergues MM et al. | β | 2024 | β |
| Intestinal Microbiota Is a Key Target for Load Swimming to Improve Anxiety Behavior and Muscle Strength in Shank 3<sup>-/-</sup> Rats. | An S et al. | β | 2024 | β |
| Is autism a PIN1 deficiency syndrome? A proposed etiological role for glyphosate. | Seneff S et al. | β | 2024 | β |
| Key Synaptic Pathology in Autism Spectrum Disorder: Genetic Mechanisms and Recent Advances. | Zhang Y et al. | β | 2024 | β |
| Mapping the Behavioral Signatures of Shank3b Mice in Both Sexes. | Liu J et al. | β | 2024 | β |
| Mapping the structure of biomarkers in autism spectrum disorder: a review of the most influential studies. | Jin F et al. | β | 2024 | β |
| Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome. | Alba C et al. | β | 2024 | β |
| nArgBP2 together with GKAP and SHANK3 forms a dynamic layered structure. | Lee SE et al. | β | 2024 | β |
| Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt <i>N</i>-Glycosylation and Reduce Protein Stability. | Xie CTY et al. | β | 2024 | β |
| Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. | Yin R et al. | β | 2024 | β |
| Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. | Peall KJ et al. | β | 2024 | β |
| Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs. | Fischer I et al. | β | 2024 | β |
| SpliceTransformer predicts tissue-specific splicing linked to human diseases. | You N et al. | β | 2024 | β |
| Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans. | Hassani Nia F et al. | β | 2024 | β |
| Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies. | Chair SY et al. | β | 2024 | β |
| The genetic landscape of autism spectrum disorder in the Middle Eastern population. | Al-Sarraj Y et al. | β | 2024 | β |
| Therapeutic development approaches to treat haploinsufficiency diseases: restoring protein levels. | Evans EF et al. | β | 2024 | β |
| The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling. | Woike D et al. | β | 2024 | β |
| Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. | Willim J et al. | β | 2024 | β |
| Voltage-induced calcium release in <i>Caenorhabditis elegans</i> body muscles. | Gao L et al. | β | 2024 | β |
| 16p11.2 CNV gene Doc2Ξ± functions in neurodevelopment and social behaviors through interaction with Secretagogin. | Wang QW et al. | β | 2023 | β |
| Adolescent sleep defects and dopaminergic hyperactivity in mice with a schizophrenia-linked Shank3 mutation. | Bian WJ et al. | β | 2023 | β |
| An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome. | Burgdorf JS et al. | β | 2023 | β |
| A review of ultrasonic vocalizations in mice and how they relate to human speech. | Yao K et al. | β | 2023 | β |
| Autism-associated gene shank3 is necessary for social contagion in zebrafish. | Kareklas K et al. | β | 2023 | β |
| Balancing Therapeutic Efficacy and Safety of MDMA and Novel MDXX Analogues as Novel Treatments for Autism Spectrum Disorder. | Kaur H et al. | β | 2023 | β |
| Biological Pathways Associated with Vitamins in Autism Spectrum Disorder. | Gusso D et al. | β | 2023 | β |
| Bridging the translational gap: what can synaptopathies tell us about autism? | Molloy CJ et al. | β | 2023 | β |
| Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts. | Chen X et al. | β | 2023 | β |
| cLD: Rare-variant linkage disequilibrium between genomic regions identifies novel genomic interactions. | Wang D et al. | β | 2023 | β |
| Correlation of mutated gene and signalling pathways in ASD. | Apte M et al. | β | 2023 | β |
| Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. | SchΓΆn M et al. | β | 2023 | β |
| Detecting Central Auditory Processing Disorders in Awake Mice. | Dejean C et al. | β | 2023 | β |
| Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities. | Zhang S et al. | β | 2023 | β |
| Diminished activity-dependent BDNF signaling differentially causes autism-like behavioral deficits in male and female mice. | Ma K et al. | β | 2023 | β |
| Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study. | Hickman AR et al. | β | 2023 | β |
| Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome. | Vitrac A et al. | β | 2023 | β |
| Dual-Hit: Glyphosate exposure at NOAEL level negatively impacts birth and glia-behavioural measures in heterozygous shank3 mutants. | Sakkaki S et al. | β | 2023 | β |
| Dysregulated Signaling at Postsynaptic Density: A Systematic Review and Translational Appraisal for the Pathophysiology, Clinics, and Antipsychotics' Treatment of Schizophrenia. | de Bartolomeis A et al. | β | 2023 | β |
| Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations. | Hussein Y et al. | β | 2023 | β |
| Early-onset catatonia associated with <i>SHANK3</i> mutations: looking at the autism spectrum through the prism of psychomotor phenomena. | Dhossche D et al. | β | 2023 | β |
| Elevation of SHANK3 Levels by Antisense Oligonucleotides Directed Against the 3'-UTR of the Human <i>SHANK3</i> mRNA. | Stirmlinger N et al. | β | 2023 | β |
| Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review. | Ryan NM et al. | β | 2023 | β |
| Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of <i>Shank3</i> mutant mice. | Ferhat AT et al. | β | 2023 | β |
| Expression profiles of the autism-related SHANK proteins in the human brain. | Woelfle S et al. | β | 2023 | β |
| Genetic and environmental mouse models of autism reproduce the spectrum of the disease. | Jaber M | β | 2023 | β |
| Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. | Zhang Y et al. | β | 2023 | β |
| Genome-wide association study meta-analysis of suicide death and suicidal behavior. | Li QS et al. | β | 2023 | β |
| Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13. | Sarasua SM et al. | β | 2023 | β |
| Immune synaptopathies: how maternal immuneΒ activation impacts synaptic function during development. | Matteoli M et al. | β | 2023 | β |
| Intersectin deficiency impairs cortico-striatal neurotransmission and causes obsessive-compulsive behaviors in mice. | Vollweiter D et al. | β | 2023 | β |
| Intestinal Barrier Dysfunction and Microbiota-Gut-Brain Axis: Possible Implications in the Pathogenesis and Treatment of Autism Spectrum Disorder. | Dargenio VN et al. | β | 2023 | β |
| Intestinal microbiota is a key target for load swimming to improve anxiety behavior and muscle strength in Shank3-/- rats | An S et al. | β | 2023 | β |
| JNK-interacting protein 4 is a central molecule for lysosomal retrograde trafficking. | Sasazawa Y et al. | β | 2023 | β |
| Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder. | Voinsky I et al. | β | 2023 | β |
| Magnetic Resonance Imaging in Autism Spectrum Disorders: clinical and neuroradiological phenotypes. | Pizzolorusso F et al. | β | 2023 | β |
| Maternal treatment with aripiprazole prevents the development of a valproic acid-induced autism-like phenotype in juvenile male mice. | de Oliveira Ferreira E et al. | β | 2023 | β |
| Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics. | Forrest MP et al. | β | 2023 | β |
| Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing. | Tian R et al. | β | 2023 | β |
| Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence. | Pastore SF et al. | β | 2023 | β |
| Prenatal Sex Hormone Exposure Is Associated with the Development of Autism Spectrum Disorder. | Li M et al. | β | 2023 | β |
| Progranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome. | Life B et al. | β | 2023 | β |
| Prolonged partner separation erodes nucleus accumbens transcriptional signatures of pair bonding in male prairie voles. | Sadino JM et al. | β | 2023 | β |
| Reduced neurite density index in the prefrontal cortex of adults with autism assessed using neurite orientation dispersion and density imaging. | Arai T et al. | β | 2023 | β |
| Role of the Autism Risk Gene <i>Shank3</i> in the Development of Atherosclerosis: Insights from Big Data and Mechanistic Analyses. | Chang HW et al. | β | 2023 | β |
| Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling. | Pagano J et al. | β | 2023 | β |
| SHANK3 Mutations Associated with Autism and Schizophrenia Lead to Shared and Distinct Changes in Dendritic Spine Dynamics in the Developing Mouse Brain. | Huang C et al. | β | 2023 | β |
| Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue. | Yildiz B et al. | β | 2023 | β |
| Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics. | Maurer JJ et al. | β | 2023 | β |
| Spinophilin Limits Metabotropic Glutamate Receptor 5 Scaffolding to the Postsynaptic Density and Cell Type Specifically Mediates Excessive Grooming. | Morris CW et al. | β | 2023 | β |
| Striatal increase of dopamine receptor 2 density in idiopathic and syndromic mouse models of autism spectrum disorder. | Chhabra S et al. | β | 2023 | β |
| Swimming exercise is a promising early intervention for autism-like behavior in Shank3 deletion rats. | Xu D et al. | β | 2023 | β |
| Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review. | Huang M et al. | β | 2023 | β |
| The gut-brain connection: Exploring the influence of the gut microbiota on neuroplasticity and neurodevelopmental disorders. | Damiani F et al. | β | 2023 | β |
| Transient hearing abnormalities precede social deficits in a mouse model of autism. | Pang R et al. | β | 2023 | β |
| Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges. | Guerreiro S et al. | β | 2023 | β |
| Twenty years of discoveries emerging from mouse models of autism. | Crawley JN | β | 2023 | β |
| Updated consensus guidelines on the management of Phelan-McDermid syndrome. | Srivastava S et al. | β | 2023 | β |
| YBX1-Mediated DNA Methylation-Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia. | Ni P et al. | β | 2023 | β |
| Absence of familiarity triggers hallmarks of autism in mouse model through aberrant tail-of-striatum and prelimbic cortex signaling. | KrΓΌttner S et al. | β | 2022 | β |
| A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders. | Conrow-Graham M et al. | β | 2022 | β |
| Age, brain region, and gene dosage-differential transcriptomic changes in <i>Shank3</i>-mutant mice. | Yoo T et al. | β | 2022 | β |
| Alterations in Cerebellar Microtubule Cytoskeletal Network in a ValproicAcid-Induced Rat Model of Autism Spectrum Disorders. | GΔ ssowska-Dobrowolska M et al. | β | 2022 | β |
| Altered genome-wide hippocampal gene expression profiles following early life lead exposure and their potential for reversal by environmental enrichment. | Singh G et al. | β | 2022 | β |
| A matter of space and time: Emerging roles of disease-associated proteins in neural development. | Panagiotakos G et al. | β | 2022 | β |
| A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. | Sethuram S et al. | β | 2022 | β |
| A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delay. | Laboy Cintron D et al. | β | 2022 | β |
| A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. | Qin Y et al. | β | 2022 | β |
| Assessing and stabilizing atypical plasticity in autism spectrum disorder using rTMS: Results from a proof-of-principle study. | Desarkar P et al. | β | 2022 | β |
| Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries. | Wan L et al. | β | 2022 | β |
| Autism Spectrum Disorder Genes: Disease-Related Networks and Compensatory Strategies. | Lim HK et al. | β | 2022 | β |
| CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms. | Levy T et al. | β | 2022 | β |
| Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management. | Cammarata-Scalisi F et al. | β | 2022 | β |
| Clinical Features of Aberrations Chromosome 22q: A Pilot Study. | Atli EI et al. | β | 2022 | β |
| Comparing the Gut Microbiome in Autism and Preclinical Models: A Systematic Review. | Alamoudi MU et al. | β | 2022 | β |
| Deletion of the Autism-Associated Protein SHANK3 Abolishes Structural Synaptic Plasticity after Brain Trauma. | Urrutia-Ruiz C et al. | β | 2022 | β |
| Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder. | Serrada-Tejeda S et al. | β | 2022 | β |
| Disrupted social memory ensembles in the ventral hippocampus underlie social amnesia in autism-associated Shank3 mutant mice. | Tao K et al. | β | 2022 | β |
| Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice. | Lord JS et al. | β | 2022 | β |
| Effect of Early Swimming on the Behavior and Striatal Transcriptome of the <i>Shank3</i> Knockout Rat Model of Autism. | Meng Y et al. | β | 2022 | β |
| Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures. | Jain L et al. | β | 2022 | β |
| Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. | Willsey HR et al. | β | 2022 | β |
| Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder. | Doi M et al. | β | 2022 | β |
| Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons. | Ortiz-Cruz CA et al. | β | 2022 | β |
| Hyperbaric Oxygen Therapy Alleviates Social Behavior Dysfunction and Neuroinflammation in a Mouse Model for Autism Spectrum Disorders. | Fischer I et al. | β | 2022 | β |
| Lactobacillus reuteri normalizes altered fear memory in male Cntnap4 knockout mice. | Zhang W et al. | β | 2022 | β |
| Linking neuroanatomical abnormalities in autism spectrum disorder with gene expression of candidate ASD genes: A meta-analytic and network-oriented approach. | Camasio A et al. | β | 2022 | β |
| Meta-analysis of epigenome-wide association studies of major depressive disorder. | Li QS et al. | β | 2022 | β |
| Mice with an autism-associated R451C mutation in neuroligin-3 show a cautious but accurate response style in touchscreen attention tasks. | Burrows EL et al. | β | 2022 | β |
| Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates. | DiCarlo GE et al. | β | 2022 | β |
| Molecular mechanisms of synaptogenesis. | Qi C et al. | β | 2022 | β |
| Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder. | Alhazmi S et al. | β | 2022 | β |
| Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders. | Woike D et al. | β | 2022 | β |
| Neural circuit pathology driven by Shank3 mutation disrupts social behaviors. | Kim S et al. | β | 2022 | β |
| Oxytocin and serotonin in the modulation of neural function: Neurobiological underpinnings of autism-related behavior. | Zhao F et al. | β | 2022 | β |
| Parvalbumin and parvalbumin chandelier interneurons in autism and other psychiatric disorders. | Juarez P et al. | β | 2022 | β |
| Phelan-McDermid syndrome: a classification system after 30Β years of experience. | Phelan K et al. | β | 2022 | β |
| POSH regulates assembly of the NMDAR/PSD-95/Shank complex and synaptic function. | Yao M et al. | β | 2022 | β |
| Prefrontal Interneurons: Populations, Pathways, and Plasticity Supporting Typical and Disordered Cognition in Rodent Models. | Kupferschmidt DA et al. | β | 2022 | β |
| Prenatal Zinc Deficient Mice as a Model for Autism Spectrum Disorders. | Sauer AK et al. | β | 2022 | β |
| Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism. | Qin L et al. | β | 2022 | β |
| Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models. | Megagiannis P et al. | β | 2022 | β |
| Scaffold proteins as dynamic integrators of biological processes. | DiRusso CJ et al. | β | 2022 | β |
| SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism. | Ivashko-Pachima Y et al. | β | 2022 | β |
| SHANK3 Antibody Validation: Differential Performance in Western Blotting, Immunocyto- and Immunohistochemistry. | Lutz AK et al. | β | 2022 | β |
| Shank postsynaptic scaffolding proteins in autism spectrum disorder: Mouse models and their dysfunctions in behaviors, synapses, and molecules. | Jung S et al. | β | 2022 | β |
| Shank promotes action potential repolarization by recruiting BK channels to calcium microdomains. | Gao L et al. | β | 2022 | β |
| Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation. | Sheppard K et al. | β | 2022 | β |
| Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. | Levy T et al. | β | 2022 | β |
| Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms. | Doldur-Balli F et al. | β | 2022 | β |
| Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing. | Michetti C et al. | β | 2022 | β |
| The Advent of Nutrigenomics: A Narrative Review with an Emphasis on Psychological Disorders. | Birla M et al. | β | 2022 | β |
| The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models. | Mapelli L et al. | β | 2022 | β |
| The Role of Zinc and NMDA Receptors in Autism Spectrum Disorders. | Lee K et al. | β | 2022 | β |
| The Shank3<sup>Venus/Venus</sup> knock in mouse enables isoform-specific functional studies of Shank3a. | Bouquier N et al. | β | 2022 | β |
| Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. | Sakai Y et al. | β | 2022 | β |
| Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. | Nevado J et al. | β | 2022 | β |
| Zinc deficiency and supplementation in autism spectrum disorder and Phelan-McDermid syndrome. | Alsufiani HM et al. | β | 2022 | β |
| 40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the <i>SHANK3</i> Gene: A Case Report of 15-Year-Old Girl with a Rare Partial <i>SHANK3</i> Duplication. | Neklyudova AK et al. | β | 2021 | β |
| Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. | Liu C et al. | β | 2021 | β |
| A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome. | Fastman J et al. | β | 2021 | β |
| A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. | Loureiro LO et al. | β | 2021 | β |
| Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran. | Mizban N et al. | β | 2021 | β |
| A systematic review of common genetic variation and biological pathways in autism spectrum disorder. | Rodriguez-Gomez DA et al. | β | 2021 | β |
| Autism-associated <i>SHANK3</i> missense point mutations impact conformational fluctuations and protein turnover at synapses. | Bucher M et al. | β | 2021 | β |
| Behavioral aspects and neurobiological properties underlying medical cannabis treatment in Shank3 mouse model of autism spectrum disorder. | Poleg S et al. | β | 2021 | β |
| Biological Timing and Neurodevelopmental Disorders: A Role for Circadian Dysfunction in Autism Spectrum Disorders. | Lorsung E et al. | β | 2021 | β |
| CaMKIIΞ±-driven, phosphatase-checked postsynaptic plasticity via phase separation. | Cai Q et al. | β | 2021 | β |
| Combined cellomics and proteomics analysis reveals shared neuronal morphology and molecular pathway phenotypes for multiple schizophrenia risk genes. | Rosato M et al. | β | 2021 | β |
| Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications. | Delling JP et al. | β | 2021 | β |
| Contribution of Human Pluripotent Stem Cell-Based Models to Drug Discovery for Neurological Disorders. | Benchoua A et al. | β | 2021 | β |
| Deciphering the roles of glycogen synthase kinase 3 (GSK3) in the treatment of autism spectrum disorder and related syndromes. | Rizk M et al. | β | 2021 | β |
| Deficiency of SHANK3 isoforms impairs thermal hyperalgesia and dysregulates the expression of postsynaptic proteins in the spinal cord. | Huang M et al. | β | 2021 | β |
| Evaluating the Potential Use of Serotonergic Psychedelics in Autism Spectrum Disorder. | Markopoulos A et al. | β | 2021 | β |
| Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations. | Valentino F et al. | β | 2021 | β |
| Expression of the Excitatory Postsynaptic Scaffolding Protein, Shank3, in Human Brain: Effect of Age and Alzheimer's Disease. | Wan L et al. | β | 2021 | β |
| Genetic and Epigenetic Alterations in Autism Spectrum Disorder. | Oztenekecioglu B et al. | β | 2021 | β |
| Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome. | Dyar B et al. | β | 2021 | β |
| Genetic influences of autism candidate genes on circuit wiring and olfactory decoding. | Hartig R et al. | β | 2021 | β |
| Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in <i>SHANK2</i> Gene. | Ma SL et al. | β | 2021 | β |
| [Genetic risk factors and their influence on neural development in autism spectrum disorders]. | Freitag CM et al. | β | 2021 | β |
| Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia. | Mojarad BA et al. | β | 2021 | β |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. | Chopra M et al. | β | 2021 | β |
| Hippocampal Lnx1-NMDAR multiprotein complex mediates initial social memory. | Liu XD et al. | β | 2021 | β |
| Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia. | Zhang H et al. | β | 2021 | β |
| <i>FMR1</i> and Autism, an Intriguing Connection Revisited. | Fyke W et al. | β | 2021 | β |
| Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability. | Torossian A et al. | β | 2021 | β |
| Individual differences in stereotypy and neuron subtype translatome with TrkB deletion. | Engeln M et al. | β | 2021 | β |
| Inhibitory regulation of calcium transients in prefrontal dendritic spines is compromised by a nonsense Shank3 mutation. | Ali F et al. | β | 2021 | β |
| Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome. | Berg EL et al. | β | 2021 | β |
| Investigation the Relationship of Autism Spectrum Disorder and <i>FOXP2, GRIN2B, KATNAL2, GABRA4</i> Genes. | YalΓ§intepe S et al. | β | 2021 | β |
| <i>SHANK2</i> Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and <i>Shank2</i>(-/-) Mice. | Lutz AK et al. | β | 2021 | β |
| Linking mPFC circuit maturation to the developmental regulation of emotional memory and cognitive flexibility. | Klune CB et al. | β | 2021 | β |
| LMT USV Toolbox, a Novel Methodological Approach to Place Mouse Ultrasonic Vocalizations in Their Behavioral Contexts-A Study in Female and Male C57BL/6J Mice and in <i>Shank3</i> Mutant Females. | de Chaumont F et al. | β | 2021 | β |
| Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model. | Matas E et al. | β | 2021 | β |
| Molecular Mechanisms of Environmental Metal Neurotoxicity: A Focus on the Interactions of Metals with Synapse Structure and Function. | Carmona A et al. | β | 2021 | β |
| Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies. | Sabitha KR et al. | β | 2021 | β |
| Paving the Way toward Personalized Medicine: Current Advances and Challenges in Multi-OMICS Approach in Autism Spectrum Disorder for Biomarkers Discovery and Patient Stratification. | Mesleh AG et al. | β | 2021 | β |
| Perinatal Exposure to Diesel Exhaust-Origin Secondary Organic Aerosol Induces Autism-Like Behavior in Rats. | Win-Shwe TT et al. | β | 2021 | β |
| PM<sub>2.5</sub> as a potential risk factor for autism spectrum disorder: Its possible link to neuroinflammation, oxidative stress and changes in gene expression. | Ahadullah et al. | β | 2021 | β |
| Postnatal therapeutic approaches in genetic neurodevelopmental disorders. | Levy G et al. | β | 2021 | β |
| Posttranslational modifications & lithium's therapeutic effect-Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders. | Khayachi A et al. | β | 2021 | β |
| Prenatal interleukin 6 elevation increases glutamatergic synapse density and disrupts hippocampal connectivity in offspring. | Mirabella F et al. | β | 2021 | β |
| Probing Synaptic Signaling with Optogenetic Stimulation and Genetically Encoded Calcium Reporters. | Borja GB et al. | β | 2021 | β |
| Protein Phosphorylation Signaling Cascades in Autism: The Role of mTOR Pathway. | Boksha IS et al. | β | 2021 | β |
| Regulation of processing bodies: From viruses to cancer epigenetic machinery. | Kanakamani S et al. | β | 2021 | β |
| SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling. | Salomaa SI et al. | β | 2021 | β |
| Shank3 contributes to neuropathic pain by facilitating the SNI-dependent increase of HCN2 and the expression of PSD95. | Zhang X et al. | β | 2021 | β |
| Shank3Β Deficiency is Associated With Altered Profile of Neurotransmission Markers in Pups and Adult Mice. | Bukatova S et al. | β | 2021 | β |
| SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population. | Manning C et al. | β | 2021 | β |
| Shankopathies in the Developing Brain in Autism Spectrum Disorders. | Vyas Y et al. | β | 2021 | β |
| Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. | Enriquez KD et al. | β | 2021 | β |
| Social Deficits and Repetitive Behaviors Are Improved by Early Postnatal Low-Dose VPA Intervention in a Novel <i>shank3</i>-Deficient Zebrafish Model. | Liu C et al. | β | 2021 | β |
| Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome. | Brignell A et al. | β | 2021 | β |
| Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome. | Droogmans G et al. | β | 2021 | β |
| Super-resolved 3D-STED microscopy identifies a layer-specific increase in excitatory synapses in the hippocampal CA1 region of Neuroligin-3 KO mice. | Koganezawa N et al. | β | 2021 | β |
| Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer's Disease. | Nadeem MS et al. | β | 2021 | β |
| Synergistic inhibition of histone modifiers produces therapeutic effects in adult Shank3-deficient mice. | Zhang F et al. | β | 2021 | β |
| The Monash Autism-ADHD genetics and neurodevelopment (MAGNET) project design and methodologies: a dimensional approach to understanding neurobiological and genetic aetiology. | Knott R et al. | β | 2021 | β |
| The Neurological Manifestations of Phelan-McDermid Syndrome. | Frank Y | β | 2021 | β |
| The use of biomarkers associated with leaky gut as a diagnostic tool for early intervention in autism spectrum disorder: a systematic review. | Al-Ayadhi L et al. | β | 2021 | β |
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. | May HJ et al. | β | 2021 | β |
| Untreated PKU patients without intellectual disability: <i>SHANK</i> gene family as a candidate modifier. | Klaassen K et al. | β | 2021 | β |
| Upregulated NMDAR-mediated GABAergic transmission underlies autistic-like deficits in <i>Htr3a</i> knockout mice. | Huang L et al. | β | 2021 | β |
| A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes. | Xu N et al. | β | 2020 | β |
| A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments. | Wang K et al. | β | 2020 | β |
| A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. | Wang L et al. | β | 2020 | β |
| Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats. | Jacot-Descombes S et al. | β | 2020 | β |
| Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice. | Wang ZJ et al. | β | 2020 | β |
| A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes. | Cederquist GY et al. | β | 2020 | β |
| An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. | Wang L et al. | β | 2020 | β |
| An endocannabinoid-regulated basolateral amygdala-nucleus accumbens circuit modulates sociability. | Folkes OM et al. | β | 2020 | β |
| Are Steroid Hormones Dysregulated in Autistic Girls? | Gasser BA et al. | β | 2020 | β |
| A standardized social preference protocol for measuring social deficits in mouse models of autism. | Rein B et al. | β | 2020 | β |
| Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. | Lutz AK et al. | β | 2020 | β |
| Behavioral neuroscience of autism. | Takumi T et al. | β | 2020 | β |
| CaMKIIΞ± phosphorylation of Shank3 modulates ABI1-Shank3 interaction. | Perfitt TL et al. | β | 2020 | β |
| Cerebral organoids as tools to identify the developmental roots of autism. | Chan WK et al. | β | 2020 | β |
| Colonic dilation and altered ex vivo gastrointestinal motility in the neuroligin-3 knockout mouse. | Leembruggen AJL et al. | β | 2020 | β |
| Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation. | Reilly J et al. | β | 2020 | β |
| Decreased amplitude and reliability of odor-evoked responses in two mouse models of autism. | Geramita MA et al. | β | 2020 | β |
| Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. | Bassell J et al. | β | 2020 | β |
| Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy. | Javed S et al. | β | 2020 | β |
| Exosomes derived from mesenchymal stem cells improved core symptoms of genetically modified mouse model of autism Shank3B. | Perets N et al. | β | 2020 | β |
| Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder. | Yoon SH et al. | β | 2020 | β |
| Glutamatergic Dysfunction and Synaptic Ultrastructural Alterations in Schizophrenia and Autism Spectrum Disorder: Evidence from Human and Rodent Studies. | Eltokhi A et al. | β | 2020 | β |
| <i>N</i>-Methyl-D-Aspartate (NMDA) receptor modulators: a patent review (2015-present). | Ahmed H et al. | β | 2020 | β |
| meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes. | Ciuculete DM et al. | β | 2020 | β |
| Modifier genes in SCN1A-related epilepsy syndromes. | de Lange IM et al. | β | 2020 | β |
| Molecular architecture of postsynaptic Interactomes. | Wilkinson B et al. | β | 2020 | β |
| Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective. | Ε imiΔ G et al. | β | 2020 | β |
| Multiple Rare Risk Coding Variants in Postsynaptic Density-Related Genes Associated With Schizophrenia Susceptibility. | Hu TM et al. | β | 2020 | β |
| Neural Stem Cells from Shank3-ko Mouse Model Autism Spectrum Disorders. | Grasselli C et al. | β | 2020 | β |
| Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. | Bhandari R et al. | β | 2020 | β |
| NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function. | Gilbert J et al. | β | 2020 | β |
| Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery. | Ristori MV et al. | β | 2020 | β |
| Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. | Kohlenberg TM et al. | β | 2020 | β |
| Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. | Husson T et al. | β | 2020 | β |
| Sam Domains in Multiple Diseases. | Vincenzi M et al. | β | 2020 | β |
| Severe white matter damage in SHANK3 deficiency: a human and translational study. | Jesse S et al. | β | 2020 | β |
| Shank3 Binds to and Stabilizes the Active Form of Rap1 and HRas GTPases via Its NTD-ANK Tandem with Distinct Mechanisms. | Cai Q et al. | β | 2020 | β |
| SHANK3 Co-ordinately Regulates Autophagy and Apoptosis in Myocardial Infarction. | Man W et al. | β | 2020 | β |
| Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic function. | Amal H et al. | β | 2020 | β |
| Stem Cells for Improving the Treatment of Neurodevelopmental Disorders. | Donegan JJ et al. | β | 2020 | β |
| Subacute Neuropsychiatric Syndrome in Girls With <i>SHANK3</i> Mutations Responds to Immunomodulation. | Bey AL et al. | β | 2020 | β |
| SULT4A1 Modulates Synaptic Development and Function by Promoting the Formation of PSD-95/NMDAR Complex. | Culotta L et al. | β | 2020 | β |
| Targeting of Ξ΄-catenin to postsynaptic sites through interaction with the Shank3 N-terminus. | Hassani Nia F et al. | β | 2020 | β |
| Tau Reduction Prevents Key Features of Autism in Mouse Models. | Tai C et al. | β | 2020 | β |
| The Genetic Control of Stoichiometry Underlying Autism. | Darnell RB | β | 2020 | β |
| The neuroligins and the synaptic pathway in Autism Spectrum Disorder. | Trobiani L et al. | β | 2020 | β |
| The sociability spectrum: evidence from reciprocal genetic copy number variations. | LΓ³pez-TobΓ³n A et al. | β | 2020 | β |
| Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy. | Fan C et al. | β | 2020 | β |
| Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear Ξ²-catenin signaling. | Hassani Nia F et al. | β | 2020 | β |
| Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations. | Gouder L et al. | β | 2019 | β |
| Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. | Richter M et al. | β | 2019 | β |
| A multiscale analysis in CD38<sup>-/-</sup> mice unveils major prefrontal cortex dysfunctions. | Martucci LL et al. | β | 2019 | β |
| Anchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation. | Zeng M et al. | β | 2019 | β |
| A potential mechanistic role for neuroinflammation in reward processing impairments in autism spectrum disorder. | Greene RK et al. | β | 2019 | β |
| Application of Human-Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders. | Shen X et al. | β | 2019 | β |
| Association of genes with phenotype in autism spectrum disorder. | Nisar S et al. | β | 2019 | β |
| Autism-associated Shank3 mutations alter mGluR expression and mGluR-dependent but not NMDA receptor-dependent long-term depression. | Lee K et al. | β | 2019 | β |
| Autism, Gastrointestinal Symptoms and Modulation of Gut Microbiota by Nutritional Interventions. | Ristori MV et al. | β | 2019 | β |
| Brain mGluR5 in Shank3B<sup>-/-</sup> Mice Studied With <i>in vivo</i> [<sup>18</sup>F]FPEB PET Imaging and <i>ex vivo</i> Immunoblotting. | Cai G et al. | β | 2019 | β |
| Chemogenetic Activation of Prefrontal Cortex in Shank3-Deficient Mice Ameliorates Social Deficits, NMDAR Hypofunction, and Sgk2 Downregulation. | Qin L et al. | β | 2019 | β |
| Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature. | Tahata S et al. | β | 2019 | β |
| Dissecting the Genetics of Autism Spectrum Disorders: A <i>Drosophila</i> Perspective. | Bellosta P et al. | β | 2019 | β |
| Efficient generation of Knock-in/Knock-out marmoset embryo via CRISPR/Cas9 gene editing. | Kumita W et al. | β | 2019 | β |
| Enhanced Glutamatergic Currents at Birth in Shank3 KO Mice. | Chiesa M et al. | β | 2019 | β |
| Epigenetic Regulations in Neuropsychiatric Disorders. | Kuehner JN et al. | β | 2019 | β |
| Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder. | Zhang L et al. | β | 2019 | β |
| Gut microbiome: An intermediary to neurotoxicity. | Dempsey JL et al. | β | 2019 | β |
| Home-cage hypoactivity in mouse genetic models of autism spectrum disorder. | Angelakos CC et al. | β | 2019 | β |
| Hypothesis-driven investigations of diverse pharmacological targets in two mouse models of autism. | Rhine MA et al. | β | 2019 | β |
| Identifying Associations Among Co-Occurring Medical Conditions in Children With Autism Spectrum Disorders. | Neumeyer AM et al. | β | 2019 | β |
| Incontinence in Phelan-McDermid Syndrome. | Witmer C et al. | β | 2019 | β |
| Interactome Studies of Psychiatric Disorders. | Park DI et al. | β | 2019 | β |
| <i>Shank3</i> Exons 14-16 Deletion in Glutamatergic Neurons Leads to Social and Repetitive Behavioral Deficits Associated With Increased Cortical Layer 2/3 Neuronal Excitability. | Yoo T et al. | β | 2019 | β |
| <i>Shank3</i> Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility. | Yoo YE et al. | β | 2019 | β |
| Lrrc7 mutant mice model developmental emotional dysregulation that can be alleviated by mGluR5 allosteric modulation. | Chong CH et al. | β | 2019 | β |
| MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. | Capkova P et al. | β | 2019 | β |
| Molecular Dynamics Simulations of Wild Type and Mutants of SAPAP in Complexed with Shank3. | Piao L et al. | β | 2019 | β |
| Mouse models as a tool for discovering new neurological diseases. | Tan Q et al. | β | 2019 | β |
| Neurobiology and treatment of social cognition in schizophrenia: Bridging the bed-bench gap. | Kimoto S et al. | β | 2019 | β |
| Neurodevelopmental Disorders: Functional Role of Ambra1 in Autism and Schizophrenia. | La Barbera L et al. | β | 2019 | β |
| Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. | Kolevzon A et al. | β | 2019 | β |
| Patient-Derived Stem Cells, Another <i>in vitro</i> Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? | Maussion G et al. | β | 2019 | β |
| Rainer W. Guillery and the genetic analysis of brain development. | Walsh CA | β | 2019 | β |
| Real-time analysis of the behaviour of groups of mice via a depth-sensing camera and machine learning. | de Chaumont F et al. | β | 2019 | β |
| Region-Specific Reduction of BDNF Protein and Transcripts in the Hippocampus of Juvenile Rats Prenatally Treated With Sodium Valproate. | Fuentealba CR et al. | β | 2019 | β |
| Sensory Abnormalities in Autism Spectrum Disorders: A Focus on the Tactile Domain, From Genetic Mouse Models to the Clinic. | Balasco L et al. | β | 2019 | β |
| SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. | Qiu S et al. | β | 2019 | β |
| Shanks - multidomain molecular scaffolds of the postsynaptic density. | Kursula P | β | 2019 | β |
| Social and non-social autism symptoms and trait domains are genetically dissociable. | Warrier V et al. | β | 2019 | β |
| Synapse-to-Nucleus Signaling in Neurodegenerative and Neuropsychiatric Disorders. | Parra-Damas A et al. | β | 2019 | β |
| The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder. | Kikkawa T et al. | β | 2019 | β |
| The zebrafish subcortical social brain as a model for studying social behavior disorders. | Geng Y et al. | β | 2019 | β |
| Uncovering the Functional Link Between <i>SHANK3</i> Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons. | Huang G et al. | β | 2019 | β |
| Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour. | Verma V et al. | β | 2019 | β |
| 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype. | Ponson L et al. | β | 2018 | β |
| Actin cytoskeleton dynamics in stem cells from autistic individuals. | Griesi-Oliveira K et al. | β | 2018 | β |
| Alterations in CA1 hippocampal synapses in a mouse model of fragile X syndrome. | Jawaid S et al. | β | 2018 | β |
| An opposing function of paralogs in balancing developmental synapse maturation. | Favaro PD et al. | β | 2018 | β |
| Autism spectrum disorders and disease modeling using stem cells. | Brito A et al. | β | 2018 | β |
| Autism throughout genetics: Perusal of the implication of ion channels. | Daghsni M et al. | β | 2018 | β |
| Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective. | Sungur AΓ et al. | β | 2018 | β |
| Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the <i>Shank3</i> Gene. | Drapeau E et al. | β | 2018 | β |
| Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome. | Spagnoli C et al. | β | 2018 | β |
| Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors. | Bey AL et al. | β | 2018 | β |
| Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection. | Grzadzinski R et al. | β | 2018 | β |
| Chronic Toxoplasma infection is associated with distinct alterations in the synaptic protein composition. | Lang D et al. | β | 2018 | β |
| Clustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models. | Brown EA et al. | β | 2018 | β |
| Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders. | Ali Rodriguez R et al. | β | 2018 | β |
| CRISPR/Cas9-induced <i>shank3b</i> mutant zebrafish display autism-like behaviors. | Liu CX et al. | β | 2018 | β |
| Defective Synapse Maturation and Enhanced Synaptic Plasticity in Shank2 Ξex7<sup>-/-</sup> Mice. | Wegener S et al. | β | 2018 | β |
| Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <i>SHANK3</i> point mutations. | De Rubeis S et al. | β | 2018 | β |
| Dendritic spine actin cytoskeleton in autism spectrum disorder. | Joensuu M et al. | β | 2018 | β |
| Dendritic structural plasticity and neuropsychiatric disease. | Forrest MP et al. | β | 2018 | β |
| Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. | Berg EL et al. | β | 2018 | β |
| Distinct Phenotypes of <i>Shank2</i> Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With <i>SHANK2</i> Variants. | Eltokhi A et al. | β | 2018 | β |
| Dysbiosis of microbiome and probiotic treatment in a genetic model of autism spectrum disorders. | Tabouy L et al. | β | 2018 | β |
| Early Postnatal Exposure to Airborne Fine Particulate Matter Induces Autism-like Phenotypes in Male Rats. | Li K et al. | β | 2018 | β |
| Effect of intraperitoneal or intracerebroventricular injection of streptozotocin on learning and memory in mice. | Zhang Y et al. | β | 2018 | β |
| Endothelial cell-derived GABA signaling modulates neuronal migration and postnatal behavior. | Li S et al. | β | 2018 | β |
| Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder. | Hulbert SW et al. | β | 2018 | β |
| Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders. | Xu X et al. | β | 2018 | β |
| Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases. | Sundararajan T et al. | β | 2018 | β |
| Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients. | Hassani Nia F et al. | β | 2018 | β |
| GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation. | Jiang DY et al. | β | 2018 | β |
| GABA Neuronal Deletion of <i>Shank3</i> Exons 14-16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities. | Yoo T et al. | β | 2018 | β |
| Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder. | Bai Y et al. | β | 2018 | β |
| Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. | Soler J et al. | β | 2018 | β |
| Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. | Li Y et al. | β | 2018 | β |
| Histone deacetylase inhibitor MS-275 restores social and synaptic function in a Shank3-deficient mouse model of autism. | Ma K et al. | β | 2018 | β |
| <i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. | Alonso-Gonzalez A et al. | β | 2018 | β |
| Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. | Jin ZB et al. | β | 2018 | β |
| Imaging genetics in autism spectrum disorders: Linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms. | Fakhoury M | β | 2018 | β |
| JIP2 haploinsufficiency contributes to neurodevelopmental abnormalities in human pluripotent stem cell-derived neural progenitors and cortical neurons. | Roessler R et al. | β | 2018 | β |
| Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. | Sestan N et al. | β | 2018 | β |
| nArgBP2-SAPAP-SHANK, the core postsynaptic triad associated with psychiatric disorders. | Lee SE et al. | β | 2018 | β |
| Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes. | Hartwig C et al. | β | 2018 | β |
| Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. | Luo J et al. | β | 2018 | β |
| Persistent 6-OH-BDE-47 exposure impairs functional neuronal maturation and alters expression of neurodevelopmentally-relevant chromatin remodelers. | Poston RG et al. | β | 2018 | β |
| Plausibility of the zebrafish embryos/larvae as an alternative animal model for autism: A comparison study of transcriptome changes. | Lee S et al. | β | 2018 | β |
| Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome. | Hagmeyer S et al. | β | 2018 | β |
| Psychiatry in a Dish: Stem Cells and Brain Organoids Modeling Autism Spectrum Disorders. | Ilieva M et al. | β | 2018 | β |
| Reduced Efficacy of d-Amphetamine and 3,4-Methylenedioxymethamphetamine in Inducing Hyperactivity in Mice Lacking the Postsynaptic Scaffolding Protein SHANK1. | Sungur AΓ et al. | β | 2018 | β |
| Role of Striatal Direct Pathway 2-Arachidonoylglycerol Signaling in Sociability and Repetitive Behavior. | Shonesy BC et al. | β | 2018 | β |
| Sex Hormones Regulate <i>SHANK</i> Expression. | Berkel S et al. | β | 2018 | β |
| Shank3-deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties. | Zhu M et al. | β | 2018 | β |
| SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature. | Kanani F et al. | β | 2018 | β |
| Shank and Zinc Mediate an AMPA Receptor Subunit Switch in Developing Neurons. | Ha HTT et al. | β | 2018 | β |
| Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity. | Taylor SE et al. | β | 2018 | β |
| Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition. | Qin L et al. | β | 2018 | β |
| Solution structures of the SH3 domains from Shank scaffold proteins and their interactions with Cav1.3 calcium channels. | Ishida H et al. | β | 2018 | β |
| Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development. | Kathuria A et al. | β | 2018 | β |
| Strategies to Advance Drug Discovery in Rare Monogenic Intellectual Disability Syndromes. | Hettige NC et al. | β | 2018 | β |
| Synapse-to-nucleus communication: from developmental disorders to Alzheimer's disease. | Marcello E et al. | β | 2018 | β |
| Synaptopathology Involved in Autism Spectrum Disorder. | Guang S et al. | β | 2018 | β |
| The Communication Between the Immune and Nervous Systems: The Role of IL-1Ξ² in Synaptopathies. | Pozzi D et al. | β | 2018 | β |
| Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism. | St Clair D et al. | β | 2018 | β |
| USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels. | Kerrisk Campbell M et al. | β | 2018 | β |
| Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity. | Khan FF et al. | β | 2018 | β |
| Wnt/Ξ²-catenin signaling stimulates the expression and synaptic clustering of the autism-associated Neuroligin 3 gene. | Medina MA et al. | β | 2018 | β |
| Worms on the spectrum - C. elegans models in autism research. | Schmeisser K et al. | β | 2018 | β |
| Aberrant cognitive phenotypes and altered hippocampal BDNF expression related to epigenetic modifications in mice lacking the post-synaptic scaffolding protein SHANK1: Implications for autism spectrum disorder. | Sungur AΓ et al. | β | 2017 | β |
| A framework to identify contributing genes in patients with Phelan-McDermid syndrome. | Tabet AC et al. | β | 2017 | β |
| A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. | Connolly S et al. | β | 2017 | β |
| An indirect route to repetitive actions. | Lovinger DM | β | 2017 | β |
| A Novel Human <i>CAMK2A</i> Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. | Stephenson JR et al. | β | 2017 | β |
| An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options. | Masi A et al. | β | 2017 | β |
| A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice. | Kofuji T et al. | β | 2017 | β |
| A Presynaptic Function of Shank Protein in <i>Drosophila</i>. | Wu S et al. | β | 2017 | β |
| A Scaled Framework for CRISPR Editing of Human Pluripotent Stem Cells to Study Psychiatric Disease. | Hazelbaker DZ et al. | β | 2017 | β |
| Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice. | Morimura N et al. | β | 2017 | β |
| Autism spectrum disorders: an updated guide for genetic counseling. | Griesi-Oliveira K et al. | β | 2017 | β |
| Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder. | Chen CH et al. | β | 2017 | β |
| CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. | Mercati O et al. | β | 2017 | β |
| Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors. | Schenkel LC et al. | β | 2017 | β |
| Current status of biological treatment options in Autism Spectrum Disorder. | Eapen V et al. | β | 2017 | β |
| Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers. | Pappas AL et al. | β | 2017 | β |
| Delineating the Common Biological Pathways Perturbed by ASD's Genetic Etiology: Lessons from Network-Based Studies. | Oron O et al. | β | 2017 | β |
| Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models. | MartΓnez-CerdeΓ±o V | β | 2017 | β |
| De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. | Sagar A et al. | β | 2017 | β |
| Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene <i>Ube3a</i>. | Sato M | β | 2017 | β |
| Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice. | Lim CS et al. | β | 2017 | β |
| Functional significance of rare neuroligin 1 variants found in autism. | Nakanishi M et al. | β | 2017 | β |
| Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population. | Wu Z et al. | β | 2017 | β |
| Genome-wide Methyl-Seq analysis of blood-brain targets of glucocorticoid exposure. | Seifuddin F et al. | β | 2017 | β |
| Genomic Patterns of De Novo Mutation in Simplex Autism. | Turner TN et al. | β | 2017 | β |
| Hippocampal Regulation of Postsynaptic Density Homer1 by Associative Learning. | Clifton NE et al. | β | 2017 | β |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. | Geisheker MR et al. | β | 2017 | β |
| Insulin-Like Growth Factors in the Pathogenesis of Neurological Diseases in Children. | Riikonen R | β | 2017 | β |
| Integrative Analysis of Brain Region-specific Shank3 Interactomes for Understanding the Heterogeneity of Neuronal Pathophysiology Related to <i>SHANK3</i> Mutations. | Lee Y et al. | β | 2017 | β |
| Investigation of SHANK3 in schizophrenia. | de Sena Cortabitarte A et al. | β | 2017 | β |
| Is insulin growth factor-1 the future for treating autism spectrum disorder and/or schizophrenia? | Bou Khalil R | β | 2017 | β |
| Mice lacking GRIP1/2 show increased social interactions and enhanced phosphorylation at GluA2-S880. | Han M et al. | β | 2017 | β |
| Modeling autism spectrum disorders with human neurons. | BeltrΓ£o-Braga PC et al. | β | 2017 | β |
| Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function. | Jaramillo TC et al. | β | 2017 | β |
| Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat. | Harony-Nicolas H et al. | β | 2017 | β |
| Pathological Role of Peptidyl-Prolyl Isomerase Pin1 in the Disruption of Synaptic Plasticity in Alzheimer's Disease. | Xu L et al. | β | 2017 | β |
| Pharmaceuticals and Stem Cells in Autism Spectrum Disorders: Wishful Thinking? | Sivanesan S et al. | β | 2017 | β |
| Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice. | Vicidomini C et al. | β | 2017 | β |
| Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder. | Richards C et al. | β | 2017 | β |
| Proteomic Analysis of Post-synaptic Density Fractions from <i>Shank3</i> Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder. | Reim D et al. | β | 2017 | β |
| Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity. | Tordjman S et al. | β | 2017 | β |
| Replicable in vivo physiological and behavioral phenotypes of the <i>Shank3B</i> null mutant mouse model of autism. | Dhamne SC et al. | β | 2017 | β |
| Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. | Robert C et al. | β | 2017 | β |
| Shank is a dose-dependent regulator of Ca<sub>v</sub>1 calcium current and CREB target expression. | Pym E et al. | β | 2017 | β |
| Shank Proteins Differentially Regulate Synaptic Transmission. | Shi R et al. | β | 2017 | β |
| SHANK proteins limit integrin activation by directly interacting with Rap1 andΒ R-Ras. | Lilja J et al. | β | 2017 | β |
| SHANK proteins: roles at the synapse and in autism spectrum disorder. | Monteiro P et al. | β | 2017 | β |
| Speech and Language: Translating the Genome. | Deriziotis P et al. | β | 2017 | β |
| Striatal Transcriptome and Interactome Analysis of <i>Shank3</i>-overexpressing Mice Reveals the Connectivity between Shank3 and mTORC1 Signaling. | Lee Y et al. | β | 2017 | β |
| Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism. | Wang W et al. | β | 2017 | β |
| Structure of an unconventional SH3 domain from the postsynaptic density protein Shank3 at ultrahigh resolution. | Ponna SK et al. | β | 2017 | β |
| Targets for Drug Therapy for Autism Spectrum Disorder: Challenges and Future Directions. | Lacivita E et al. | β | 2017 | β |
| The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? | Rachubinski AL et al. | β | 2017 | β |
| The PHF21B gene is associated with major depression and modulates the stress response. | Wong ML et al. | β | 2017 | β |
| The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. | Chaste P et al. | β | 2017 | β |
| Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan-McDermid Syndrome and autism. | Copping NA et al. | β | 2017 | β |
| VTA DA neuron excitatory synapses in Shank3 Ξex<sup>4-9</sup> mouse line. | Bariselli S et al. | β | 2017 | β |
| Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3. | Pfaender S et al. | β | 2017 | β |
| 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. | Steinman KJ et al. | β | 2016 | β |
| Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. | Mei Y et al. | β | 2016 | β |
| Advancing the understanding of autism disease mechanisms through genetics. | de la Torre-Ubieta L et al. | β | 2016 | β |
| Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. | Wang X et al. | β | 2016 | β |
| Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism. | Jaramillo TC et al. | β | 2016 | β |
| AMPA Receptors as Therapeutic Targets for Neurological Disorders. | Lee K et al. | β | 2016 | β |
| A new look at an old drug: neuroprotective effects and therapeutic potentials of lithium salts. | Dell'Osso L et al. | β | 2016 | β |
| A Short Review on the Current Understanding of Autism Spectrum Disorders. | Park HR et al. | β | 2016 | β |
| A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. | Larsen E et al. | β | 2016 | β |
| Behavioral phenotypes of genetic mouse models of autism. | Kazdoba TM et al. | β | 2016 | β |
| Brain connectivity in autism spectrum disorder. | Mohammad-Rezazadeh I et al. | β | 2016 | β |
| Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome. | Mieses AM et al. | β | 2016 | β |
| Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD. | Torres EB et al. | β | 2016 | β |
| Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. | Xu Q et al. | β | 2016 | β |
| Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders. | Kim KC et al. | β | 2016 | β |
| CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency. | Bidinosti M et al. | β | 2016 | β |
| Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. | Breckpot J et al. | β | 2016 | β |
| Current knowledge on the genetics of autism and propositions for future research. | Bourgeron T | β | 2016 | β |
| Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. | Zwanenburg RJ et al. | β | 2016 | β |
| Developmental profiling of ASD-related shank3 transcripts and their differential regulation by valproic acid in zebrafish. | Liu CX et al. | β | 2016 | β |
| DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome. | Schenkel LC et al. | β | 2016 | β |
| Double <i>In situ</i> Hybridization for MicroRNAs and mRNAs in Brain Tissues. | Kasai A et al. | β | 2016 | β |
| Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice. | Peter S et al. | β | 2016 | β |
| Early communication deficits in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context. | Sungur AΓ et al. | β | 2016 | β |
| Early hyperactivity and precocious maturation of corticostriatal circuits in Shank3B(-/-) mice. | Peixoto RT et al. | β | 2016 | β |
| Endosomal system genetics and autism spectrum disorders: A literature review. | Patak J et al. | β | 2016 | β |
| Enlarged dendritic spines and pronounced neophobia in mice lacking the PSD protein RICH2. | Sarowar T et al. | β | 2016 | β |
| Focus on Autism and Related Conditions. | Yu C et al. | β | 2016 | β |
| Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. | Pilorge M et al. | β | 2016 | β |
| Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL et al. | β | 2016 | β |
| Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations. | Liu X et al. | β | 2016 | β |
| Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies. | Nestor MW et al. | β | 2016 | β |
| Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome. | Darville H et al. | β | 2016 | β |
| If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism. | Yeh E et al. | β | 2016 | β |
| Marmosets: A Neuroscientific Model of Human Social Behavior. | Miller CT et al. | β | 2016 | β |
| Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects. | Zhou Y et al. | β | 2016 | β |
| Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3. | Lu C et al. | β | 2016 | β |
| Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links. | Hulbert SW et al. | β | 2016 | β |
| Mouse Genetic Models of Human Brain Disorders. | Leung C et al. | β | 2016 | β |
| Neurons Derived From Patient-Specific Induced Pluripotent Stem Cells: a Promising Strategy Towards Developing Novel Pharmacotherapies for Autism Spectrum Disorders. | Mokhtari R et al. | β | 2016 | β |
| Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy. | Egger JI et al. | β | 2016 | β |
| Overexpression of Homer1a in the basal and lateral amygdala impairs fear conditioning and induces an autism-like social impairment. | Banerjee A et al. | β | 2016 | β |
| Potential serum biomarkers from a metabolomics study of autism. | Wang H et al. | β | 2016 | β |
| Prenatal Exposure to Histone Deacetylase Inhibitors Affects Gene Expression of Autism-Related Molecules and Delays Neuronal Maturation. | Kawanai T et al. | β | 2016 | β |
| Prenatal valproate treatment produces autistic-like behavior and increases metabotropic glutamate receptorΒ 1A-immunoreactivity in the hippocampus of juvenile rats. | Peralta F et al. | β | 2016 | β |
| Receptor Tyrosine Kinase MET Interactome and Neurodevelopmental Disorder Partners at the Developing Synapse. | Xie Z et al. | β | 2016 | β |
| Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism. | Filice F et al. | β | 2016 | β |
| SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons. | Han Q et al. | β | 2016 | β |
| Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength. | Arons MH et al. | β | 2016 | β |
| Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development. | Harris KP et al. | β | 2016 | β |
| Synapse alterations in autism: Review of animal model findings. | Zatkova M et al. | β | 2016 | β |
| Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? | Yan Z et al. | β | 2016 | β |
| Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? | Hackmann K et al. | β | 2016 | β |
| The autism-associated MET receptor tyrosine kinase engages early neuronal growth mechanism and controls glutamatergic circuits development in the forebrain. | Peng Y et al. | β | 2016 | β |
| The emerging roles of MicroRNAs in autism spectrum disorders. | Fregeac J et al. | β | 2016 | β |
| The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture. | Bourgeron T | β | 2016 | β |
| The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. | Crider A et al. | β | 2016 | β |
| The over-pruning hypothesis of autism. | Thomas MS et al. | β | 2016 | β |
| The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia. | Enriquez-Barreto L et al. | β | 2016 | β |
| The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders. | Costales J et al. | β | 2016 | β |
| Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics. | Kazdoba TM et al. | β | 2016 | β |
| Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops. | Mullins C et al. | β | 2016 | β |
| Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. | Lucariello M et al. | β | 2016 | β |
| Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. | Homann OR et al. | β | 2016 | β |
| Zinc Stabilizes Shank3 at the Postsynaptic Density of Hippocampal Synapses. | Tao-Cheng JH et al. | β | 2016 | β |
| Addressing the Genetics of Human Mental Health Disorders in Model Organisms. | McCammon JM et al. | β | 2015 | β |
| A molecular model for neurodevelopmental disorders. | Gigek CO et al. | β | 2015 | β |
| Assessing and Stabilizing Aberrant Neuroplasticity in Autism Spectrum Disorder: The Potential Role of Transcranial Magnetic Stimulation. | Desarkar P et al. | β | 2015 | β |
| Autism and the synapse: emerging mechanisms and mechanism-based therapies. | Ebrahimi-Fakhari D et al. | β | 2015 | β |
| Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits. | Speed HE et al. | β | 2015 | β |
| Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. | Duffney LJ et al. | β | 2015 | β |
| Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. | Oberman LM et al. | β | 2015 | β |
| Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. | Philippe A et al. | β | 2015 | β |
| CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation. | Tanabe Y et al. | β | 2015 | β |
| Cerebellar associative sensory learning defects in five mouse autism models. | Kloth AD et al. | β | 2015 | β |
| Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment. | Tassano E et al. | β | 2015 | β |
| Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders. | Gao R et al. | β | 2015 | β |
| Decreased expression of mGluR5 within the dorsolateral prefrontal cortex in autism and increased microglial number in mGluR5 knockout mice: Pathophysiological and neurobehavioral implications. | Chana G et al. | β | 2015 | β |
| De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient. | Hara M et al. | β | 2015 | β |
| Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date. | Fung LK et al. | β | 2015 | β |
| Differential Local Connectivity and Neuroinflammation Profiles in the Medial Prefrontal Cortex and Hippocampus in the Valproic Acid Rat Model of Autism. | Codagnone MG et al. | β | 2015 | β |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | β | 2015 | β |
| Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. | Taylor A et al. | β | 2015 | β |
| Epigenetic mechanisms: A possible link between autism spectrum disorders and fetal alcohol spectrum disorders. | Varadinova M et al. | β | 2015 | β |
| Evidence for the multiple hits genetic theory for inherited language impairment: a case study. | Centanni TM et al. | β | 2015 | β |
| Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders. | Nelson SB et al. | β | 2015 | β |
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. | Bramswig NC et al. | β | 2015 | β |
| From the genetic architecture to synaptic plasticity in autism spectrum disorder. | Bourgeron T | β | 2015 | β |
| Gene hunting in autism spectrum disorder: on the path to precision medicine. | Geschwind DH et al. | β | 2015 | β |
| Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. | Yoo H | β | 2015 | β |
| Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism. | Papale LA et al. | β | 2015 | β |
| Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder. | Daimon CM et al. | β | 2015 | β |
| Human Structural Variation: Mechanisms of Chromosome Rearrangements. | Weckselblatt B et al. | β | 2015 | β |
| Identification and functional characterization of rare SHANK2 variants in schizophrenia. | Peykov S et al. | β | 2015 | β |
| Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility. | Kimura H et al. | β | 2015 | β |
| Inactivation of the catalytic phosphatase domain of PTPRT/RPTPΟ increases social interaction in mice. | Thirtamara Rajamani K et al. | β | 2015 | β |
| Induced pluripotent stem cells for modeling neurological disorders. | Russo FB et al. | β | 2015 | β |
| Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. | Sanders SJ et al. | β | 2015 | β |
| Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports. | Serret S et al. | β | 2015 | β |
| MicroRNAs: Not "Fine-Tuners" but Key Regulators of Neuronal Development and Function. | Davis GM et al. | β | 2015 | β |
| Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. | Griesi-Oliveira K et al. | β | 2015 | β |
| MRI Surface-Based Brain Morphometry in Egyptian Autistic and Typically Developing Children. | Saleh M et al. | β | 2015 | β |
| Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. | Sullivan JM et al. | β | 2015 | β |
| Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3. | Uchino S et al. | β | 2015 | β |
| Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. | Costales JL et al. | β | 2015 | β |
| Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. | Harony-Nicolas H et al. | β | 2015 | β |
| Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. | Cochoy DM et al. | β | 2015 | β |
| Post-transcriptional regulation of SHANK3 expression by microRNAs related to multiple neuropsychiatric disorders. | Choi SY et al. | β | 2015 | β |
| Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform. | Benthani F et al. | β | 2015 | β |
| Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent CaΒ²βΊ channels. | Takada Y et al. | β | 2015 | β |
| Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. | Merner ND et al. | β | 2015 | β |
| Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. | Li J et al. | β | 2015 | β |
| SHANK1 and autism spectrum disorders. | Gong X et al. | β | 2015 | β |
| Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. | Lee J et al. | β | 2015 | β |
| SHANK Mutations May Disorder Brain Development. | Poot M | β | 2015 | β |
| Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders. | Sala C et al. | β | 2015 | β |
| Specific Roles of NMDA Receptor Subunits in Mental Disorders. | Yamamoto H et al. | β | 2015 | β |
| The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis. | Fujita-Jimbo E et al. | β | 2015 | β |
| The complex genetics in autism spectrum disorders. | Hua R et al. | β | 2015 | β |
| The emerging picture of autism spectrum disorder: genetics and pathology. | Chen JA et al. | β | 2015 | β |
| The role of Ξ±-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors in depression: central mediators of pathophysiology and antidepressant activity? | Freudenberg F et al. | β | 2015 | β |
| The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment. | Acab A et al. | β | 2015 | β |
| The use of stem cells to study autism spectrum disorder. | Ardhanareeswaran K et al. | β | 2015 | β |
| Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation. | Lee EJ et al. | β | 2015 | β |
| Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. | Kozol RA et al. | β | 2015 | β |
| Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice. | Uppal N et al. | β | 2015 | β |
| Use of transcranial magnetic stimulation in autism spectrum disorders. | Oberman LM et al. | β | 2015 | β |
| Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism. | Patel S et al. | β | 2015 | β |
| Using Sibling Designs to Understand Neurodevelopmental Disorders: From Genes and Environments to Prevention Programming. | Wade M et al. | β | 2015 | β |
| 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. | Sarasua SM et al. | β | 2014 | β |
| A blueprint for research on Shankopathies: a view from research on autism spectrum disorder. | Carbonetto S | β | 2014 | β |
| Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. | Drapeau E et al. | β | 2014 | β |
| A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population. | Shao S et al. | β | 2014 | β |
| A de novo convergence of autism genetics and molecular neuroscience. | Krumm N et al. | β | 2014 | β |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | β | 2014 | β |
| Alternative polyadenylation and differential expression of Shank mRNAs in the synaptic neuropil. | Epstein I et al. | β | 2014 | β |
| A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA. | Studtmann K et al. | β | 2014 | β |
| A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. | Kolevzon A et al. | β | 2014 | β |
| A role for synaptic zinc in ProSAP/Shank PSD scaffold malformation in autism spectrum disorders. | Grabrucker AM | β | 2014 | β |
| Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10. | Jonsson L et al. | β | 2014 | β |
| Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits. | Jiang-Xie LF et al. | β | 2014 | β |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | β | 2014 | β |
| Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. | Sarasua SM et al. | β | 2014 | β |
| Common DNA methylation alterations in multiple brain regions in autism. | Ladd-Acosta C et al. | β | 2014 | β |
| Common genetic variants on 1p13.2 associate with risk of autism. | Xia K et al. | β | 2014 | β |
| Convergent synaptic and circuit substrates underlying autism genetic risks. | McGee A et al. | β | 2014 | β |
| Dendritic spines: the locus of structural and functional plasticity. | Sala C et al. | β | 2014 | β |
| Disease-in-a-dish: the contribution of patient-specific induced pluripotent stem cell technology to regenerative rehabilitation. | Mack DL et al. | β | 2014 | β |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. | Lionel AC et al. | β | 2014 | β |
| Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism. | D'Antoni S et al. | β | 2014 | β |
| Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. | Zhu L et al. | β | 2014 | β |
| Etiology of autism spectrum disorder: a genomics perspective. | Connolly JJ et al. | β | 2014 | β |
| GABAergic/glutamatergic imbalance relative to excessive neuroinflammation in autism spectrum disorders. | El-Ansary A et al. | β | 2014 | β |
| Genetic aspects of autism spectrum disorders: insights from animal models. | Banerjee S et al. | β | 2014 | β |
| Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. | Jiang YH et al. | β | 2014 | β |
| Genomic and genetic aspects of autism spectrum disorder. | Liu X et al. | β | 2014 | β |
| Glutamatergic candidate genes in autism spectrum disorder: an overview. | Chiocchetti AG et al. | β | 2014 | β |
| Glutamatergic postsynaptic density protein dysfunctions in synaptic plasticity and dendritic spines morphology: relevance to schizophrenia and other behavioral disorders pathophysiology, and implications for novel therapeutic approaches. | de Bartolomeis A et al. | β | 2014 | β |
| High rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K et al. | β | 2014 | β |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G et al. | β | 2014 | β |
| Identification of two novel Shank3 transcripts in the developing mouse neocortex. | Waga C et al. | β | 2014 | β |
| Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. | Zhang X et al. | β | 2014 | β |
| Language and traits of autism spectrum conditions: evidence of limited phenotypic and etiological overlap. | Taylor MJ et al. | β | 2014 | β |
| Loss of COMMD1 and copper overload disrupt zinc homeostasis and influence an autism-associated pathway at glutamatergic synapses. | Baecker T et al. | β | 2014 | β |
| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. | Leblond CS et al. | β | 2014 | β |
| MET receptor tyrosine kinase controls dendritic complexity, spine morphogenesis, and glutamatergic synapse maturation in the hippocampus. | Qiu S et al. | β | 2014 | β |
| Neurexin dysfunction in adult neurons results in autistic-like behavior in mice. | Rabaneda LG et al. | β | 2014 | β |
| Neurobiology of autism gene products: towards pathogenesis and drug targets. | Kleijer KT et al. | β | 2014 | β |
| Neuroimaging in autism--from basic science to translational research. | Ecker C et al. | β | 2014 | β |
| Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD. | Kim DS et al. | β | 2014 | β |
| Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. | Kolevzon A et al. | β | 2014 | β |
| Potential Role of Selenoenzymes and Antioxidant Metabolism in relation to Autism Etiology and Pathology. | Raymond LJ et al. | β | 2014 | β |
| Pre-clinical models of neurodevelopmental disorders: focus on the cerebellum. | Shevelkin AV et al. | β | 2014 | β |
| Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. | Nava C et al. | β | 2014 | β |
| Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders. | Santini E et al. | β | 2014 | β |
| Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context. | Sungur AΓ et al. | β | 2014 | β |
| Research highlights: highlights from the latest articles on the pharmacogenomics of neuropsychiatric disorders. | Lorenzi C et al. | β | 2014 | β |
| Sarm1, a neuronal inflammatory regulator, controls social interaction, associative memory and cognitive flexibility in mice. | Lin CW et al. | β | 2014 | β |
| Sarm1 deficiency impairs synaptic function and leads to behavioral deficits, which can be ameliorated by an mGluR allosteric modulator. | Lin CW et al. | β | 2014 | β |
| Sensory integration in mouse insular cortex reflects GABA circuit maturation. | Gogolla N et al. | β | 2014 | β |
| Shank mutant mice as an animal model of autism. | Yoo J et al. | β | 2014 | β |
| SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. | Corradi A et al. | β | 2014 | β |
| Synaptic proteins and receptors defects in autism spectrum disorders. | Chen J et al. | β | 2014 | β |
| The developmental pattern of the RAS/RAF/Erk1/2 pathway in the BTBR autism mouse model. | Yin A et al. | β | 2014 | β |
| The emerging role of SHANK genes in neuropsychiatric disorders. | Guilmatre A et al. | β | 2014 | β |
| The Potential Role of Insulin on the Shank-Postsynaptic Platform in Neurodegenerative Diseases Involving Cognition. | Chow F et al. | β | 2014 | β |
| The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation. | Grabrucker S et al. | β | 2014 | β |
| Therapeutic approaches for shankopathies. | Wang X et al. | β | 2014 | β |
| The social brain network and autism. | Misra V | β | 2014 | β |
| The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders. | Cocks G et al. | β | 2014 | β |
| Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice. | Wang X et al. | β | 2014 | β |
| Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: detailed spectrographic analyses and developmental profiles. | WΓΆhr M | β | 2014 | β |
| Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders. | Grabrucker S et al. | β | 2014 | β |
| A Case of Autism with Ring Chromosome 14. | Tajeran M et al. | β | 2013 | β |
| Actin filaments and microtubules in dendritic spines. | Shirao T et al. | β | 2013 | β |
| An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy. | Millan MJ | β | 2013 | β |
| A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism. | Talebizadeh Z et al. | β | 2013 | β |
| Autism genetics. | Persico AM et al. | β | 2013 | β |
| Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. | Won H et al. | β | 2013 | β |
| Autism spectrum disorder in the genetics clinic: a review. | Carter MT et al. | β | 2013 | β |
| Autism spectrum disorders: the quest for genetic syndromes. | Zafeiriou DI et al. | β | 2013 | β |
| Brain IL-6 and autism. | Wei H et al. | β | 2013 | β |
| Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. | Aldinger KA et al. | β | 2013 | β |
| Changes in plasticity across the lifespan: cause of disease and target for intervention. | Oberman L et al. | β | 2013 | β |
| Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. | Kunde SA et al. | β | 2013 | β |
| Co-expression profiling of autism genes in the mouse brain. | Menashe I et al. | β | 2013 | β |
| Copy number variants in adult patients with Lennox-Gastaut syndrome features. | Lund C et al. | β | 2013 | β |
| Dances with black widow spiders: dysregulation of glutamate signalling enters centre stage in ADHD. | Lesch KP et al. | β | 2013 | β |
| Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report. | Macedoni-LukΕ‘iΔ M et al. | β | 2013 | β |
| Developing new pharmacotherapies for autism. | Ecker C et al. | β | 2013 | β |
| Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism. | Pizzarelli R et al. | β | 2013 | β |
| Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders. | Penzes P et al. | β | 2013 | β |
| Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening. | Boissart C et al. | β | 2013 | β |
| Distribution of disease-associated copy number variants across distinct disorders of cognitive development. | Pescosolido MF et al. | β | 2013 | β |
| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | β | 2013 | β |
| Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. | Chilian B et al. | β | 2013 | β |
| Effect of homozygous deletions at 22q13.1 on alcohol dependence severity and cue-elicited BOLD response in the precuneus. | Liu J et al. | β | 2013 | β |
| Epigenetic findings in autism: new perspectives for therapy. | Siniscalco D et al. | β | 2013 | β |
| Eps8 controls dendritic spine density and synaptic plasticity through its actin-capping activity. | Menna E et al. | β | 2013 | β |
| Genetic analysis of the DLGAP1 gene as a candidate gene for schizophrenia. | Li JM et al. | β | 2013 | β |
| Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice. | Kerr TM et al. | β | 2013 | β |
| Genetic basis of intellectual disability. | Ellison JW et al. | β | 2013 | β |
| Genomics and autism spectrum disorder. | Johnson NL et al. | β | 2013 | β |
| GluA1 and its PDZ-interaction: a role in experience-dependent behavioral plasticity in the forced swim test. | Freudenberg F et al. | β | 2013 | β |
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS et al. | β | 2013 | β |
| IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway. | Hayashi T et al. | β | 2013 | β |
| Is autism a disease of the cerebellum? An integration of clinical and pre-clinical research. | Rogers TD et al. | β | 2013 | β |
| Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. | Liu Y et al. | β | 2013 | β |
| Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission. | Kouser M et al. | β | 2013 | β |
| MET receptor tyrosine kinase as an autism genetic risk factor. | Peng Y et al. | β | 2013 | β |
| Modeling autism by SHANK gene mutations in mice. | Jiang YH et al. | β | 2013 | β |
| Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients. | Hannachi H et al. | β | 2013 | β |
| Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants. | Sadakata T et al. | β | 2013 | β |
| Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India. | John N et al. | β | 2013 | β |
| Mutations of the synapse genes and intellectual disability syndromes. | Verpelli C et al. | β | 2013 | β |
| Neuronal connectivity as a convergent target of gene Γ environment interactions that confer risk for Autism Spectrum Disorders. | Stamou M et al. | β | 2013 | β |
| Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. | Toma C et al. | β | 2013 | β |
| Novel treatments in autism spectrum disorders: from synaptic dysfunction to experimental therapeutics. | Canitano R | β | 2013 | β |
| Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. | Doelken SC et al. | β | 2013 | β |
| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. | Boccuto L et al. | β | 2013 | β |
| Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. | Soorya L et al. | β | 2013 | β |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC et al. | β | 2013 | β |
| Scaffolding proteins of the post-synaptic density contribute to synaptic plasticity by regulating receptor localization and distribution: relevance for neuropsychiatric diseases. | Iasevoli F et al. | β | 2013 | β |
| Sequencing ASMT identifies rare mutations in Chinese Han patients with autism. | Wang L et al. | β | 2013 | β |
| SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. | Shcheglovitov A et al. | β | 2013 | β |
| SHANK3 as an autism spectrum disorder-associated gene. | Uchino S et al. | β | 2013 | β |
| Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism. | Duffney LJ et al. | β | 2013 | β |
| SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region. | Mameza MG et al. | β | 2013 | β |
| SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. | Betancur C et al. | β | 2013 | β |
| SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. | Han K et al. | β | 2013 | β |
| Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation. | Raynaud F et al. | β | 2013 | β |
| Structures and target recognition modes of PDZ domains: recurring themes and emerging pictures. | Ye F et al. | β | 2013 | β |
| Studying autism in rodent models: reconciling endophenotypes with comorbidities. | Argyropoulos A et al. | β | 2013 | β |
| Synaptic Signaling in Learning and Memory. | Kennedy MB | β | 2013 | β |
| The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations. | Ey E et al. | β | 2013 | β |
| The genetic landscapes of autism spectrum disorders. | Huguet G et al. | β | 2013 | β |
| The genetics of Autism Spectrum Disorders--a guide for clinicians. | Heil KM et al. | β | 2013 | β |
| Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. | Lanz TA et al. | β | 2013 | β |
| Translational approaches to the biology of Autism: false dawn or a new era? | Ecker C et al. | β | 2013 | β |
| Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell migration, neurogenesis, synapse formation, and dendritic spine development. | Yang K et al. | β | 2013 | β |
| A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. | Griesi-Oliveira K et al. | β | 2012 | β |
| Altered balance of proteolytic isoforms of pro-brain-derived neurotrophic factor in autism. | Garcia KL et al. | β | 2012 | β |
| Annual research review: impact of advances in genetics in understanding developmental psychopathology. | Addington AM et al. | β | 2012 | β |
| A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. | Casey JP et al. | β | 2012 | β |
| A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity. | ArtigalΓ‘s O et al. | β | 2012 | β |
| A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis. | Lennertz L et al. | β | 2012 | β |
| Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population. | Boutte D et al. | β | 2012 | β |
| Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. | Malenfant P et al. | β | 2012 | β |
| Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling. | Arons MH et al. | β | 2012 | β |
| Autism genetics: searching for specificity and convergence. | Berg JM et al. | β | 2012 | β |
| Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate. | Irie F et al. | β | 2012 | β |
| Autism risk factors: genes, environment, and gene-environment interactions. | Chaste P et al. | β | 2012 | β |
| Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. | Schmeisser MJ et al. | β | 2012 | β |
| Brain IL-6 elevation causes neuronal circuitry imbalances and mediates autism-like behaviors. | Wei H et al. | β | 2012 | β |
| Calcium-dependent networks in dopamine-glutamate interaction: the role of postsynaptic scaffolding proteins. | de Bartolomeis A et al. | β | 2012 | β |
| Cellular and synaptic network defects in autism. | PeΓ§a J et al. | β | 2012 | β |
| Childhood disorders of the synapse: challenges and opportunities. | Hughes V et al. | β | 2012 | β |
| Children with autism show reduced somatosensory response: an MEG study. | Marco EJ et al. | β | 2012 | β |
| CNVs: harbingers of a rare variant revolution in psychiatric genetics. | Malhotra D et al. | β | 2012 | β |
| CNVs leading to fusion transcripts in individuals with autism spectrum disorder. | Holt R et al. | β | 2012 | β |
| Cortactin-binding protein 2 modulates the mobility of cortactin and regulates dendritic spine formation and maintenance. | Chen YK et al. | β | 2012 | β |
| Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviors. | Yadav R et al. | β | 2012 | β |
| De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. | Gauthier J et al. | β | 2012 | β |
| Detection and characterization of copy number variation in autism spectrum disorder. | Marshall CR et al. | β | 2012 | β |
| Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. | Fromer M et al. | β | 2012 | β |
| Effect of experimental genital mycoplasmosis on gene expression in the fetal brain. | Burton A et al. | β | 2012 | β |
| Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. | Lesca G et al. | β | 2012 | β |
| Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ et al. | β | 2012 | β |
| Evidence for involvement of GNB1L in autism. | Chen YZ et al. | β | 2012 | β |
| Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders. | Ting JT et al. | β | 2012 | β |
| Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. | Leblond CS et al. | β | 2012 | β |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | β | 2012 | β |
| Genetic copy number variation and general cognitive ability. | MacLeod AK et al. | β | 2012 | β |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
| High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability. | Gong X et al. | β | 2012 | β |
| High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism. | Kelleher RJ et al. | β | 2012 | β |
| Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. | Steinberg KM et al. | β | 2012 | β |
| Individual common variants exert weak effects on the risk for autism spectrum disorders. | Anney R et al. | β | 2012 | β |
| Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. | Berkel S et al. | β | 2012 | β |
| Interneuron dysfunction in psychiatric disorders. | MarΓn O | β | 2012 | β |
| Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. | Pescosolido MF et al. | β | 2012 | β |
| Meditation as a potential therapy for autism: a review. | Sequeira S et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| Mining and modeling human genetics for autism therapeutics. | Smith DG et al. | β | 2012 | β |
| Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions. | Qiu S et al. | β | 2012 | β |
| Molecular and synaptic defects in intellectual disability syndromes. | Verpelli C et al. | β | 2012 | β |
| Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder. | Fujita-Jimbo E et al. | β | 2012 | β |
| Mutations affecting synaptic levels of neurexin-1Ξ² in autism and mental retardation. | Camacho-Garcia RJ et al. | β | 2012 | β |
| NESH regulates dendritic spine morphology and synapse formation. | Bae J et al. | β | 2012 | β |
| Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. | Veenstra-VanderWeele J et al. | β | 2012 | β |
| Neuroligin-1-dependent competition regulates cortical synaptogenesis and synapse number. | Kwon HB et al. | β | 2012 | β |
| Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? | Verhoeven WM et al. | β | 2012 | β |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | β | 2012 | β |
| Rare variants in complex traits: novel identification strategies and the role of de novo mutations. | Jouan L et al. | β | 2012 | β |
| Reduced axonal localization of a Caps2 splice variant impairs axonal release of BDNF and causes autistic-like behavior in mice. | Sadakata T et al. | β | 2012 | β |
| Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. | Yang M et al. | β | 2012 | β |
| Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma. | Zirn B et al. | β | 2012 | β |
| Role of a redox-based methylation switch in mRNA life cycle (pre- and post-transcriptional maturation) and protein turnover: implications in neurological disorders. | Trivedi MS et al. | β | 2012 | β |
| Scaffold proteins at the postsynaptic density. | Verpelli C et al. | β | 2012 | β |
| Serotonin in the modulation of neural plasticity and networks: implications for neurodevelopmental disorders. | Lesch KP et al. | β | 2012 | β |
| Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome. | Zitano L et al. | β | 2012 | β |
| SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D et al. | β | 2012 | β |
| SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. | Durand CM et al. | β | 2012 | β |
| Structure of metabotropic glutamate receptor C-terminal domains in contact with interacting proteins. | Enz R | β | 2012 | β |
| Subsynaptic AMPA receptor distribution is acutely regulated by actin-driven reorganization of the postsynaptic density. | Kerr JM et al. | β | 2012 | β |
| Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders. | Spooren W et al. | β | 2012 | β |
| Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. | Zoghbi HY et al. | β | 2012 | β |
| Synaptic plasticity in mouse models of autism spectrum disorders. | Chung L et al. | β | 2012 | β |
| The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). | Phelan K et al. | β | 2012 | β |
| The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease. | Stolp H et al. | β | 2012 | β |
| The role of the postsynaptic density in the pathology of the fragile X syndrome. | Kindler S et al. | β | 2012 | β |
| The therapeutic effect of memantine through the stimulation of synapse formation and dendritic spine maturation in autism and fragile X syndrome. | Wei H et al. | β | 2012 | β |
| Triggers for autism: genetic and environmental factors. | Matsuzaki H et al. | β | 2012 | β |
| Tweaking the social network. | Gomez-Mancilla B | β | 2012 | β |
| Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. | Blaker-Lee A et al. | β | 2012 | β |
| A brain region-specific predictive gene map for autism derived by profiling a reference gene set. | Kumar A et al. | β | 2011 | β |
| A double hit implicates DIAPH3 as an autism risk gene. | Vorstman JA et al. | β | 2011 | β |
| Alterations of GABAergic signaling in autism spectrum disorders. | Pizzarelli R et al. | β | 2011 | β |
| Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. | Grabrucker AM et al. | β | 2011 | β |
| Animal model integration to AutDB, a genetic database for autism. | Kumar A et al. | β | 2011 | β |
| A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. | Hussman JP et al. | β | 2011 | β |
| Application of the immunological disease continuum to study autoimmune and other inflammatory events after vaccination. | Koenig HC et al. | β | 2011 | β |
| Are retinoids potential therapeutic agents in disorders of social cognition including autism? | Ebstein RP et al. | β | 2011 | β |
| Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism. | Toma C et al. | β | 2011 | β |
| Association study of the CNS patterning genes and autism in Han Chinese in Taiwan. | Chien YL et al. | β | 2011 | β |
| A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism. | Misceo D et al. | β | 2011 | β |
| Autism: a "critical period" disorder? | LeBlanc JJ et al. | β | 2011 | β |
| Autism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic children. | Kuwano Y et al. | β | 2011 | β |
| Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function. | Etherton M et al. | β | 2011 | β |
| Behavioral profiles of mouse models for autism spectrum disorders. | Ey E et al. | β | 2011 | β |
| Caenorhabditis elegans as an experimental tool for the study of complex neurological diseases: Parkinson's disease, Alzheimer's disease and autism spectrum disorder. | Calahorro F et al. | β | 2011 | β |
| Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. | Aziz A et al. | β | 2011 | β |
| Characterizing brain cortical plasticity and network dynamics across the age-span in health and disease with TMS-EEG and TMS-fMRI. | Pascual-Leone A et al. | β | 2011 | β |
| Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. | Mikhail FM et al. | β | 2011 | β |
| Clinical utility gene card for: deletion 22q13 syndrome. | Phelan K et al. | β | 2011 | β |
| Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior. | WΓΆhr M et al. | β | 2011 | β |
| Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation. | Grabrucker AM et al. | β | 2011 | β |
| Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. | Paciorkowski AR et al. | β | 2011 | β |
| Defects in translational regulation contributing to human cognitive and behavioral disease. | Darnell JC | β | 2011 | β |
| Deletion of densin-180 results in abnormal behaviors associated with mental illness and reduces mGluR5 and DISC1 in the postsynaptic density fraction. | Carlisle HJ et al. | β | 2011 | β |
| Dendritic spine pathology in neuropsychiatric disorders. | Penzes P et al. | β | 2011 | β |
| Discovery, structure-activity relationship studies, and crystal structure of nonpeptide inhibitors bound to the Shank3 PDZ domain. | Saupe J et al. | β | 2011 | β |
| Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. | Poot M et al. | β | 2011 | β |
| Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. | Luo Y et al. | β | 2011 | β |
| Do common variants play a role in risk for autism? Evidence and theoretical musings. | Devlin B et al. | β | 2011 | β |
| Does treatment of premature labor with terbutaline increase the risk of autism spectrum disorders? | Rodier P et al. | β | 2011 | β |
| Emerging themes in GABAergic synapse development. | Kuzirian MS et al. | β | 2011 | β |
| Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. | Bangash MA et al. | β | 2011 | β |
| Epac2-mediated dendritic spine remodeling: implications for disease. | Penzes P et al. | β | 2011 | β |
| Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. | Betancur C | β | 2011 | β |
| Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | Hamdan FF et al. | β | 2011 | β |
| Fetal exposure to teratogens: evidence of genes involved in autism. | Dufour-Rainfray D et al. | β | 2011 | β |
| Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. | Mejias R et al. | β | 2011 | β |
| Gene and miRNA expression profiles in autism spectrum disorders. | Ghahramani Seno MM et al. | β | 2011 | β |
| Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder. | Yasuda Y et al. | β | 2011 | β |
| [Genetic analyses for identifying molecular mechanisms in autism spectrum disorders]. | Chiocchetti A et al. | β | 2011 | β |
| [Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?]. | Nickl-Jockschat T et al. | β | 2011 | β |
| Genetic and epigenetic networks in intellectual disabilities. | van Bokhoven H | β | 2011 | β |
| Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. | Osbun N et al. | β | 2011 | β |
| Genetic risk in autism: new associations and clinical testing. | Freitag CM | β | 2011 | β |
| Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. | Rossignol E | β | 2011 | β |
| Genetics of obesity and overgrowth syndromes. | Sabin MA et al. | β | 2011 | β |
| Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. | Carter MT et al. | β | 2011 | β |
| IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine phosphatase Ξ΄. | Yoshida T et al. | β | 2011 | β |
| IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation. | Wei H et al. | β | 2011 | β |
| Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. | Verpelli C et al. | β | 2011 | β |
| Lateral organization of the postsynaptic density. | MacGillavry HD et al. | β | 2011 | β |
| Links between genetics and pathophysiology in the autism spectrum disorders. | Holt R et al. | β | 2011 | β |
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. | Bonaglia MC et al. | β | 2011 | β |
| Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children. | Brooks-Kayal A | β | 2011 | β |
| Mouse models of autism: testing hypotheses about molecular mechanisms. | Roullet FI et al. | β | 2011 | β |
| Mutations in the TSGA14 gene in families with autism spectrum disorders. | Korvatska O et al. | β | 2011 | β |
| Neuronal activity-regulated gene transcription in synapse development and cognitive function. | West AE et al. | β | 2011 | β |
| Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. | Schaaf CP et al. | β | 2011 | β |
| Oligonucleotide microarrays in constitutional genetic diagnosis. | Keren B et al. | β | 2011 | β |
| Phospholipase Cbeta1b associates with a Shank3 complex at the cardiac sarcolemma. | Grubb DR et al. | β | 2011 | β |
| Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. | Grabrucker AM et al. | β | 2011 | β |
| Progress in understanding autism: 2007-2010. | Rutter ML | β | 2011 | β |
| Protein interactome reveals converging molecular pathways among autism disorders. | Sakai Y et al. | β | 2011 | β |
| PSD-95-like membrane associated guanylate kinases (PSD-MAGUKs) and synaptic plasticity. | Xu W | β | 2011 | β |
| Quantifying and modeling birth order effects in autism. | Turner T et al. | β | 2011 | β |
| Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. | Pagnamenta AT et al. | β | 2011 | β |
| Ras and Rap signaling in synaptic plasticity and mental disorders. | Stornetta RL et al. | β | 2011 | β |
| Risk factors for autism: translating genomic discoveries into diagnostics. | Scherer SW et al. | β | 2011 | β |
| Sapap3 deletion anomalously activates short-term endocannabinoid-mediated synaptic plasticity. | Chen M et al. | β | 2011 | β |
| Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. | PeΓ§a J et al. | β | 2011 | β |
| Slitrks as emerging candidate genes involved in neuropsychiatric disorders. | Proenca CC et al. | β | 2011 | β |
| Sociability and motor functions in Shank1 mutant mice. | Silverman JL et al. | β | 2011 | β |
| Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. | Okamoto N et al. | β | 2011 | β |
| SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. | Fassio A et al. | β | 2011 | β |
| Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. | Wang X et al. | β | 2011 | β |
| Synaptic signaling and aberrant RNA splicing in autism spectrum disorders. | Smith RM et al. | β | 2011 | β |
| Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | Piton A et al. | β | 2011 | β |
| The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping. | Joober R | β | 2011 | β |
| The balance between excitation and inhibition and functional sensory processing in the somatosensory cortex. | Zhang Z et al. | β | 2011 | β |
| The conundrums of understanding genetic risks for autism spectrum disorders. | State MW et al. | β | 2011 | β |
| The ongoing dissection of the genetic architecture of autistic spectrum disorder. | Gillis RF et al. | β | 2011 | β |
| The postsynaptic organization of synapses. | Sheng M et al. | β | 2011 | β |
| Transcriptomic analysis of autistic brain reveals convergent molecular pathology. | Voineagu I et al. | β | 2011 | β |
| Turnover of synapse and dynamic nature of synaptic molecules in vitro and in vivo. | Kondo S et al. | β | 2011 | β |
| Zebrafish models for the functional genomics of neurogenetic disorders. | Kabashi E et al. | β | 2011 | β |
| 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. | Dhar SU et al. | β | 2010 | β |
| A de novo 7.9 Mb deletion in 22q13.2βqter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings. | Chen CP et al. | β | 2010 | β |
| A genome-wide scan for common alleles affecting risk for autism. | Anney R et al. | β | 2010 | β |
| Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome. | Dahlhaus R et al. | β | 2010 | β |
| Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. | KantojΓ€rvi K et al. | β | 2010 | β |
| Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. | Kramer M et al. | β | 2010 | β |
| A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. | Girirajan S et al. | β | 2010 | β |
| Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk. | Carayol J et al. | β | 2010 | β |
| Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling. | Bertone A et al. | β | 2010 | β |
| [Autism: overestimation of the genetic origins]. | Chamak B | β | 2010 | β |
| Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2. | Giza J et al. | β | 2010 | β |
| Beyond categorical diagnostics in psychiatry: Scientific and medicolegal implications. | AnckarsΓ€ter H | β | 2010 | β |
| Cell adhesion molecules and their involvement in autism spectrum disorder. | Ye H et al. | β | 2010 | β |
| Conserved role of intragenic DNA methylation in regulating alternative promoters. | Maunakea AK et al. | β | 2010 | β |
| Degradation of postsynaptic scaffold GKAP and regulation of dendritic spine morphology by the TRIM3 ubiquitin ligase in rat hippocampal neurons. | Hung AY et al. | β | 2010 | β |
| Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. | Ching MS et al. | β | 2010 | β |
| De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. | Gauthier J et al. | β | 2010 | β |
| Discovering gene functional relationships using FAUN (Feature Annotation Using Nonnegative matrix factorization). | Tjioe E et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Disruption of the epigenetic code: an emerging mechanism in mental retardation. | van Bokhoven H et al. | β | 2010 | β |
| Emerging pharmacotherapies for neurodevelopmental disorders. | Wetmore DZ et al. | β | 2010 | β |
| Epilepsy and autism spectrum disorders: are there common developmental mechanisms? | Brooks-Kayal A | β | 2010 | β |
| Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome. | Bartsch O et al. | β | 2010 | β |
| Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D et al. | β | 2010 | β |
| Genetic causes of syndromic and non-syndromic autism. | Caglayan AO | β | 2010 | β |
| Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models. | Gatto CL et al. | β | 2010 | β |
| Genetics of autistic disorders: review and clinical implications. | Freitag CM et al. | β | 2010 | β |
| Genetic testing for autism: recent advances and clinical implications. | Miller DT | β | 2010 | β |
| Genome variation and complexity in the autism spectrum. | van de Lagemaat LN et al. | β | 2010 | β |
| Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. | Bonaglia MC et al. | β | 2010 | β |
| GPCR interacting proteins (GIPs) in the nervous system: Roles in physiology and pathologies. | Bockaert J et al. | β | 2010 | β |
| Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. | Bozdagi O et al. | β | 2010 | β |
| Homer1a-dependent crosstalk between NMDA and metabotropic glutamate receptors in mouse neurons. | Bertaso F et al. | β | 2010 | β |
| Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. | Kang SH et al. | β | 2010 | β |
| Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. | Sarachana T et al. | β | 2010 | β |
| Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. | Toro R et al. | β | 2010 | β |
| Linkage and candidate gene studies of autism spectrum disorders in European populations. | Holt R et al. | β | 2010 | β |
| Loose ligation of the rat sciatic nerve elicits early accumulation of Shank1 protein in the post-synaptic density of spinal dorsal horn neurons. | Miletic G et al. | β | 2010 | β |
| Mechanisms of synapse and dendrite maintenance and their disruption in psychiatric and neurodegenerative disorders. | Lin YC et al. | β | 2010 | β |
| Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. | Roll P et al. | β | 2010 | β |
| Mutation screening of melatonin-related genes in patients with autism spectrum disorders. | Jonsson L et al. | β | 2010 | β |
| Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. | Berkel S et al. | β | 2010 | β |
| Neurexin-neuroligin cell adhesion complexes contribute to synaptotropic dendritogenesis via growth stabilization mechanisms in vivo. | Chen SX et al. | β | 2010 | β |
| Neurogenetics: advancing the "next-generation" of brain research. | Zoghbi HY et al. | β | 2010 | β |
| Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. | Blundell J et al. | β | 2010 | β |
| Neuroligin-deficient mutants of C. elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity. | Hunter JW et al. | β | 2010 | β |
| Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. | Cukier HN et al. | β | 2010 | β |
| Oriented Markov random field based dendritic spine segmentation for fluorescence microscopy images. | Cheng J et al. | β | 2010 | β |
| Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS et al. | β | 2010 | β |
| Progress in cytogenetics: implications for child psychopathology. | Hoffman EJ et al. | β | 2010 | β |
| Promoting social behavior with oxytocin in high-functioning autism spectrum disorders. | Andari E et al. | β | 2010 | β |
| Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling. | Chen CP et al. | β | 2010 | β |
| SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. | Castermans D et al. | β | 2010 | β |
| Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification. | Bremer A et al. | β | 2010 | β |
| Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. | de Bruijn DR et al. | β | 2010 | β |
| Structural variation in the human genome and its role in disease. | Stankiewicz P et al. | β | 2010 | β |
| Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. | Wu Y et al. | β | 2010 | β |
| The clinical context of copy number variation in the human genome. | Lee C et al. | β | 2010 | β |
| The genetic basis of non-syndromic intellectual disability: a review. | Kaufman L et al. | β | 2010 | β |
| The genetics of autism: key issues, recent findings, and clinical implications. | El-Fishawy P et al. | β | 2010 | β |
| The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. | State MW | β | 2010 | β |
| The intense world theory - a unifying theory of the neurobiology of autism. | Markram K et al. | β | 2010 | β |
| The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics. | Yirmiya N et al. | β | 2010 | β |
| The role of calcium-dependent gene expression in autism spectrum disorders: lessons from MeCP2, Ube3a and beyond. | Qiu Z et al. | β | 2010 | β |
| A mouse model of the human Fragile X syndrome I304N mutation. | Zang JB et al. | β | 2009 | β |
| Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. | Weiss LA | β | 2009 | β |
| CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. | Zweier C et al. | β | 2009 | β |
| Genetic factors and epigenetic factors for autism: endoplasmic reticulum stress and impaired synaptic function. | Momoi T et al. | β | 2009 | β |
| Genetic overlap between autism, schizophrenia and bipolar disorder. | Carroll LS et al. | β | 2009 | β |