SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

Remote Language Assessment in School-Age Children With Phelan-McDermid Syndrome and Genotype-Phenotype Correlation.

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.

Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.

Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

"SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".

Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol.

Dissociation of the mTOR Protein Interaction Network Following Neuronal Activation Is Altered by Shank3 Mutation.

Altered Structural Plasticity Mediated by mGlu and NMDA Receptors and Impaired Cognition in a Genetic ASD Model (Shank3+/- Mice).

NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results.

Shank3B-/- pathophysiology: Early metformin treatment rescues behavioural deficits and normalises exacerbated mRNA translation.

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia.

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.

Developmental CA2 perineuronal net reduction restores social memory in Shank3 mutant mice.

Shank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and is associated with altered regional microglial morphology.

Phelan-McDermid Syndrome in Spanish children: gastrointestinal manifestations in relation to nutritional intake.

Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome.

Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development.

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.

Genotype-Phenotype Correlation and Psychiatric Manifestations in a Case of Phelan-McDermid Syndrome With 22q13.33 Deletion.

Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome.

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.

Phelan-McDermid syndrome in a Chinese pediatric patient: A case report - new heterozygous mutations lead to PMS.

A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome.

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome.

Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.

Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome.

Introduction to the Special Issue on Phenotypic Explorations of Phelan McDermid Syndrome and Other Developmental Synaptopathies.

Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity.

Shank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and shapes regional microglia activation.

Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes.

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.

[Clinical and genetic analysis of four patients with Phelan-McDermid syndrome due to variants of SHANK gene].

A Proposal for Neurocognitive Assessment in Spanish-Speaking Adults With Phelan-McDermid Syndrome: A Case Report.

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

Hyper-extralemniscal model of Fragile X syndrome.

Genetic abnormalities in catatonia: a systematic review.

Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes Beyond SHANK3.

Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood.

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.

Study protocol for a randomized controlled trial of Regulating Together (RT), a group therapy for emotion dysregulation in school-age autistic youth and their caregivers.

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome.

Altered Neural Activity in the Mesoaccumbens Pathway Underlies Impaired Social Reward Processing in Shank3-Deficient Rats.

Prenatal diagnosis of a 5.44-Mb de novo 22q13.31q13.33 deletion encompassing SHANK3 associated with mosaicism for r(22)(p11.2q11.31) and monosomy 22 in a fetus with severe right hydronephrosis and hydroureter on ultrasound and determination of a maternal origin of the deletion and r(22) by quantitative fluorescent polymerase chain reaction.

EEG abnormalities in a 3-year-old child with developmental delay and autistic-like behavior: a case of Phelan-McDermid syndrome.

Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.

Auditory steady-state response deficits in Fragile X Syndrome implicate deficits in stimulus representation maintenance and GABAergic modulation.

Sensorimotor Behavior in Individuals With Autism Spectrum Disorder and Their Unaffected Biological Parents.

Navigating Neuroimaging Challenges in Rare Neurogenetic Disorders: A Case Example From Girls With Fragile X Syndrome.

Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.

An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome.

Behavioral decline in Shank3Δex4-22 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes.

Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism.

Phelan-McDermid syndrome-associated psychosis: a systematic review.

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome.

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

Assessing sociability using the Three-Chamber Social Interaction Test and the Reciprocal Interaction Test in a genetic mouse model of ASD.

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop.

Behavioral regression in shank3Δex4-22 mice during early adulthood corresponds to cerebellar granule cell glutamatergic synaptic changes.

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.

Conference proceedings: Inaugural meeting of the consortium for autism, genetic neurodevelopmental disorders, and digestive diseases.

[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy.

Sulfotransferase 4A1 Coding Sequence and Protein Structure Are Highly Conserved in Vertebrates.

Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes.

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models.

Population-based study of rare epilepsy incidence in a US urban population.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

Association between parental psychiatric disorders and risk of offspring autism spectrum disorder: a Swedish and Finnish population-based cohort study.

Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency.

Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome.

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.

Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency.

Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium.

Social behavioral impairments in SYNGAP1-related intellectual disability.

Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia.

Intranasal Oxytocin in Pediatric Populations: Exploring the Potential for Reducing Irritability and Modulating Neural Responses: A Mini Review.

Improving autism identification and support for individuals assigned female at birth: clinical suggestions and research priorities.

Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews.

Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models.

Gait Abnormalities in Children with Phelan-McDermid Syndrome.

Developmental regression in children: Current and future directions.

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena.

Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9.

Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.

Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.

Case of twin achondroplasia and autism coexistence and literature review.

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice.

[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling.

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.

Bridging the translational gap: what can synaptopathies tell us about autism?

Updated consensus guidelines on the management of Phelan-McDermid syndrome.

Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome.

[Genetic analysis of two children with developmental delay and intellectual disability].

Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Shank3 deficits in the anteromedial bed nucleus of the stria terminalis trigger an anxiety phenotype in mice.

Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Consensus recommendations on mental health issues in Phelan-McDermid syndrome.

Consensus recommendations on lymphedema in Phelan-McDermid syndrome.

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

Activation of the CA2-ventral CA1 pathway reverses social discrimination dysfunction in Shank3B knockout mice.

Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.

Consensus recommendations on sleeping problems in Phelan-McDermid syndrome.

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.

Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.

Evaluation of immunological abnormalities in patients with rare syndromes.

Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.

Development of sex- and genotype-specific behavioral phenotypes in a Shank3 mouse model for neurodevelopmental disorders.

"Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.

The impact of Phelan-McDermid syndrome on the child and family.

Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons.

Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.

An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome.

Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome.

Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study.

Juvenile Shank3 KO Mice Adopt Distinct Hunting Strategies during Prey Capture Learning.

Elevation of SHANK3 Levels by Antisense Oligonucleotides Directed Against the 3'-UTR of the Human SHANK3 mRNA.

Age, brain region, and gene dosage-differential transcriptomic changes in Shank3-mutant mice.

Efficacity of tDCS in catatonic patients with Phelan McDermid syndrome, a case series.

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.

Phelan-McDermid and general anesthesia with different hypnotics.

Hyperbaric Oxygen Therapy Alleviates Social Behavior Dysfunction and Neuroinflammation in a Mouse Model for Autism Spectrum Disorders.

Behavioral and brain anatomical analysis of Foxg1 heterozygous mice.

Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships.

Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.

Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial.

Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents' Experiences.

Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.

Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature.

Neuromotor Development in the Shank3 Mouse Model of Autism Spectrum Disorder.

Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder.

Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study.

Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.

Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.

SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system.

Understanding Behavior in Phelan-McDermid Syndrome.

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders.

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.

Depression and Catatonia Associated With Lansoprazole in an Adolescent With Phelan-McDermid Syndrome: A Case Report.

"Déjà vu" in an autism gene mouse model modifies social mores.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism.

Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.

Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.

Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Efficacy and Safety of Q10 Ubiquinol With Vitamins B and E in Neurodevelopmental Disorders: A Retrospective Chart Review.

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With Phelan-McDermid Syndrome: An Open-Label, Cross-Over, Preliminary Study.

The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions.

Utilizing Genomically Targeted Molecular Data to Improve Patient-Specific Outcomes in Autism Spectrum Disorder.

Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability.

Epigenetics of Autism Spectrum Disorder: Histone Deacetylases.

Zinc deficiency and supplementation in autism spectrum disorder and Phelan-McDermid syndrome.

A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome.

Phelan-McDermid syndrome: a classification system after 30 years of experience.

Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits.

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study.

Abnormal Whisker-Dependent Behaviors and Altered Cortico-Hippocampal Connectivity in Shank3b-/- Mice.

Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome.

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications.

Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone.

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.

Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research.

Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome.

Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome.

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

[Advance of research on Phelan-McDermid syndrome].

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.

Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.

The Neurological Manifestations of Phelan-McDermid Syndrome.

Reduced brain volume and white matter alterations in Shank3-deficient rats.

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome.

Characterisation of the clinical phenotype in Phelan-McDermid syndrome.