Ma R (2025) Concerns regarding the interpretation of Shank3 protein isoforms expressed in Shank3B-/- mice: potential off-target effects by a neomycin resistance cassette. Molecular Psychiatry

Feng J (2025) The Medial Prefrontal Cortex-Basolateral Amygdala Circuit Mediates Anxiety in Shank3 InsG3680 Knock-in Mice. Neuroscience Bulletin

 Liao Z (2025) Talin, a Rap1 effector for integrin activation at the plasma membrane, also promotes Rap1 activity by disrupting sequestration of Rap1 by SHANK3. Journal of Cell Science

 Gluckman J (2025). Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. American Journal of Medical Genetics: Part A.

 Wang YZ (2025) Reply to "Concerns regarding the interpretation of Shank3 protein isoforms expressed in Shank3B-/- mice: potential off-target effects by a neomycin resistance cassette". Molecular Psychiatry

 Wang J (2025) Cortex-specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-like Behaviors in Mice. The Journal of Neuroscience

Levy T et al (2024) An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome. HGG Advances.

Scheier ZA et al (2024) Role of Odor Novelty on Olfactory Issues in Autism Spectrum Disorder. Genes, Brains, and Behavior.  

An S et al (2024) Intestinal Microbiota Is a Key Target for Load Swimming to Improve Anxiety Behavior and Muscle Strength in Shank 3-/- Rats. Molecular Neurobiology.

Bacova Z et al (2024)  Reduced Neurite Arborization in Primary Dopaminergic Neurons in Autism-Like Shank3B-Deficient Mice. Molecular Neurobiology.  

Phelan K et al (2024). Phelan-McDermid Syndrome-SHANK3 related GeneReviews® [Internet]. 

Kshetri R et al (2024) Behavioral decline in Shank3Δex4-22 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes. Molecular Autism.  

Zhang H et al (2024) Corrigendum to "Shank3 ameliorates neuronal injury after cerebral ischemia/reperfusion via inhibiting oxidative stress and inflammation". Redox Biology.

Yang J et al (2024) Deciphering the Role of Shank3 in Dendritic Morphology and Synaptic Function Across Postnatal Developmental Stages in the Shank3B KO Mouse. Neuroscience Bulletin.

Xiao Y et al (2024) Research Progress on the Correlation Between Atmospheric Particulate Matter and Autism. Journal of Applied Toxicology.

Pirník Z et al (2024) Altered sex differences related to food intake, hedonic preference, and FosB/deltaFosB expression within central neural circuit involved in homeostatic and hedonic food intake regulation in Shank3B mouse model of autism spectrum disorder. Neurochemistry International.

Baker LA et al (2024) Whole blood gene expression analysis of spontaneous hypertriglyceridemia in dogs suggests an underlying pro-thrombotic process. PLoS One.

Macke EL et al (2024) Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome. American Journal of Medical Genetics A.

Dahlberg PM et al (2024) Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant. American Journal of Medical Genetics A.

Gora C et al (2024) Effect of the social environment on olfaction and social skills in wild-type and a mouse model of autism. Translational Psychiatry.  

Janner DE et al (2024) Neurodevelopmental changes in Drosophila melanogaster are restored by treatment with lutein-loaded nanoparticles: Positive modulation of neurochemical and behavioral parameters. Comp Biochem Physiol C Toxicol Pharmacol.

Medina E et al (2024). Sex differences in sleep deficits in mice with an autism-linked Shank3 mutation. Biology of Sex Differences.

Lemos FS et al (2024) UHT Cow's Milk Supplementation Affects Cell Niches and Functions of the Gut-Brain Axis in BALB/c Mice. Biomedicines.

Asta L. et al (2024) Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome. Journal Neurodevelopmental Disorder.

Esmel-Vilomara et al (2024). Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics.

Delling JP et al (2024) Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency. Molecular Psychiatry.

Zhang H et al (2024) Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs. Stem Cell Reports.

Fischer I et al (2024) Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs. Science Advances.  

Ko TH et al (2024) Shank3 Overexpression Leads to Cardiac Dysfunction in Mice by Disrupting Calcium Homeostasis in Cardiomyocytes. Korean Circulation Journal. 

Sun M, et al (2024) Childhood anaesthesia and autism risk: population and murine study. Brain Communications. 

Bačová Z et al (2024) Shank3 deficiency alters midbrain GABAergic neuron morphology, GABAergic markers and synaptic activity in primary striatal neurons. Molecular Brain.

Szabó J et al (2024) Assessing sociability using the Three-Chamber Social Interaction Test and the Reciprocal Interaction Test in a genetic mouse model of ASD. Behavioral and Brain Functions.

Bazbaz W et al (2024) The Role of Thioredoxin System in Shank3 Mouse Model of Autism. Journal Molecular Neuroscience.  

Yin R et al (2024) Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. Molecular Autism.

Ren W et al (2024) Disrupted Human-Dog Interbrain Neural Coupling in Autism-Associated Shank3 Mutant Dogs. Adv Sci (Weinh).  Advanced Science

Cerilli E et al (2024) Immune system dysfunction and inflammation in aging Shank3b mutant mice, a model of autism spectrum disorder. Frontiers in Immunology.

Funahashi Y et al (2024) Signal flow in the NMDA receptor-dependent phosphoproteome regulates postsynaptic plasticity for aversive learning. Science Signaling.

Yan L, et al (2024) Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].  

Lilja J et al (2024) SHANK3 depletion leads to ERK signalling overdose and cell death in KRAS-mutant cancers. Nature Communications.

Gluckman J, et al (2024) Developmental Synaptopathies Consortium. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. American Journal of Medical Genetics. 

Landen JG et al (2024) Huddling substates in mice facilitate dynamic changes in body temperature and are modulated by Shank3b and Trpm8 mutation. Communications Biology. 

Kshetri R et al (2024)  Behavioral regression in shank3Δex4-22 mice during early adulthood corresponds to cerebellar granule cell glutamatergic synaptic changes. Research Square.

Shi Q et al (2024) Impaired tactile processing in autism-associated Shank3 mutant dogs: neural mechanism and intervention. Science Bulletin (Beijing).

Savage MC et al (2024) A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Therapeutics Advanced Rare Diseases.  

Huang Y et al (2024) A protein molecular simulation analysis model combining graph convolutional neural networks and physical constraints. Methods.

Okuzono S et al An N-terminal and ankyrin repeat domain interactome of Shank3 identifies the protein complex with the splicing regulator Nono in mice. Genes to Cells.  

Liu J et al (2024) Mapping the Behavioral Signatures of Shank3b Mice in Both Sexes. Neuroscience Bulletin.

Wang YZ  et al (2024) Shank3 proteoforms in iSPNs and dSPNs lead to striatal synaptopathy in Shank3B-/- mice. Molecular Psychiatry.  

Wang YZ et al (2024) Neuron type-specific proteomics reveals distinct Shank3 proteoforms in iSPNs and dSPNs lead to striatal synaptopathy in Shank3B-/- mice. Molecular Psychiatry.

Shiota Y et al (2024) Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing. Frontiers in Genetics. 

Wang YZ et al (2024) Correction: Neuron type-specific proteomics reveals distinct Shank3 proteoforms in iSPNs and dSPNs lead to striatal synaptopathy in Shank3B-/- mice. Molecular Psychiatry.

He J et al (2024) Identification of critical genes associated with oxidative stress pathways in benzene-induced hematotoxicity. Heliyon. 

Chang S et al (2024) Whole-genome sequencing identifies novel genes for autism in Chinese trios. Science China Life Sciences.

Paracha SA et al (2024) The genetic cause of neurodevelopmental disorders in 30 consanguineous families. Frontiers in Medicine (Lausanne).  

Feng J et al (2024) The Medial Prefrontal Cortex-Basolateral Amygdala Circuit Mediates Anxiety in Shank3 InsG3680 Knock-in Mice. Neuroscience Bulletin.

Ma R et al (2024) Concerns regarding the interpretation of Shank3 protein isoforms expressed in Shank3B-/- mice: potential off-target effects by a neomycin resistance cassette. Molecular Psychiatry.

Lu Q et al (2024) Clinicopathological characteristics and genomic profiling of pure mucinous breast cancer. Breast.  

Zhao LL et al (2024) The effect of LNCRNA SHANK3 on the malignant development of gastric cancer cells by regulating the miR-4530/MNX1. Translational Oncology.

Lu X et al (2024) Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports.  

Fu S et al (2024) Impaired neuronal macroautophagy in the prelimbic cortex contributes to comorbid anxiety-like behaviors in rats with chronic neuropathic pain. Autophagy.  

Lu X et al (2024) Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports.  

Han KA et al (2024) Correction: Differentially altered social dominance- and cooperative-like behaviors in Shank2- and Shank3-mutant mice. Molecular Autism.

Muthaffar OY et al (2024) Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia. PLoS One.

Lee K et al (2024) Differential effectiveness of dietary zinc supplementation with autism-related behaviours in Shank2 knockout mice. Philisophical Transactions of the Royal Society B.  

Manning A et al (2024) Trans-synaptic Association of Vesicular Zinc Transporter 3 and Shank3 Supports Synapse-Specific Dendritic Spine Structure and Function in the Mouse Auditory Cortex. The Journal of Neuroscience.

Chung M et al (2024) Conditional knockout of Shank3 in the ventral CA1 by quantitative in vivo genome-editing impairs social memory in mice. Natire Communications.

Thibaudeau A et al (2024). Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models. Translational Psychiatry.

Fonteneau M et al (2024) The NMDA receptor modulator zelquistinel durably relieves behavioral deficits in three mouse models of autism spectrum disorder. Neuropharmacology. Neuropharmacology

Stamenkovic V et al (2024) SRC family kinase inhibition rescues molecular and behavioral phenotypes, but not protein interaction network dynamics, in a mouse model of Fragile X syndrome. Molecular Psychiatry.

Mitz AR et al (2024) Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. Clinical Genetics. 

Guo B et al (2024) Restoring thalamocortical circuit dysfunction by correcting HCN channelopathy in Shank3 mutant mice. Cell Reports Medicine.

Levy T et al (2024) Developmental Synaptopathies Consortium. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. Journal Neurodevelopmental Disorder.

Rein B et al (2024) MDMA enhances empathy-like behaviors in mice via 5-HT release in the nucleus accumbens. Science Advances. 

Mihalj D et al (2024) Shank3 Deficiency Results in a Reduction in GABAergic Postsynaptic Puncta in the Olfactory Brain Areas. Neurochemical Research.

Wu S et al (2024)  Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons. Molecular Autism.

Zhang H et al (2024) Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC. bioRxiv

Lu X et al (2024) Transcriptional Determinism and Stochasticity Contribute to the Complexity of Autism Associated SHANK Family Genes. bioRxiv  

Gizzo L et al (2024) Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome. Orphanet Journal of Rare Diseases.  

Bui HTP et al (2024) De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam. PLoS One.

Jeong JH  et al (2024)  Identification of an Antagonist Targeting G Protein and β-Arrestin Signaling Pathways of 5-HT7R. ACS Chemical Neuroscience.

.de Groot DMG  et al (2024) Perinatal exposure to the immune-suppressant di-n-octyltin dichloride affects brain development in rats. Toxicology Mechanisms and Methods.

McCoy MD  et al (2024) Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatric Nephrology.

Juan CX, et al (2024) EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development. Neuroscience. ibro Neuroscience.

Ioannidis V et al (2024) Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium. Molecular Psychiatry. 

Lee SE  et al (2024) nArgBP2 together with GKAP and SHANK3 forms a dynamic layered structure. Frontiers Cellular Neuroscience.  

Schmitt-Ulms C  et al (2024) Programmable RNA writing with trans-splicing. bioRxiv [Preprint].

Woike D  et al (2024) The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling. Molecular Neurobiology. 

Szabó J et al (2024) Intranasal oxytocin in a genetic animal model of autism. Molecular Psychiatry.

Granocchio E et al (2024) 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric Genetics.

Kollayan BY, et al (2024) Cansiz D, Beler M, Unal I, Emekli-Alturfan E, Yalcinkaya SE. Effects of low-dose ionizing radiation on the molecular pathways linking neurogenesis and autism spectrum disorders in zebrafish embryos. Drug and Chemical Toxicology. 

Zhang H, et al (2024) Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs. Stem Cell Reports.

Zhang H et al (2024) Shank3 ameliorates neuronal injury after cerebral ischemia/reperfusion via inhibiting oxidative stress and inflammation. Redox Biology.  

Jimenez-Gomez A et al (2024) Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction. Frontiers in Psychiatry. 

Tripathi MK  et al (2024) Mutations associated with autism lead to similar synaptic and behavioral alterations in both sexes of male and female mouse brain. Scientific Reports.

Li K  et al (2024) Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders. EBioMedicine.  

Zhu F  et al (2024) Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs. Molecular Autism. .

Rastegar M. et al (2024) Editorial: New insights into the molecular mechanisms of autistic spectrum disorders. Frontiers in Molecular Neuroscience.