• "Déjà vu" in an autism gene mouse model modifies social mores
• "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
• Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice
• Activation of the CA2-ventral CA1 pathway reverses social discrimination dysfunction in Shank3B knockout mice
• Age, brain region, and gene dosage-differential transcriptomic changes in <em>Shank3</em>-mutant mice
• Altered neural activity in the mesoaccumbens pathway underlies impaired social reward processing in <em>Shank3</em>-deficient rats
• An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome
• Association between parental psychiatric disorders and risk of offspring autism spectrum disorder: a Swedish and Finnish population-based cohort study
• Behavioral and brain anatomical analysis of Foxg1 heterozygous mice
• Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia
• Bridging the translational gap: what can synaptopathies tell us about autism?
• Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
• Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
• Case of twin achondroplasia and autism coexistence and literature review
• Clinical and genetic analysis of three children with 22q13 deletion syndrome
• Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
• Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency
• Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome
• Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome
• Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome
• Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
• Consensus recommendations on Epilepsy in Phelan-McDermid syndrome
• Consensus recommendations on lymphedema in Phelan-McDermid syndrome
• Consensus recommendations on mental health issues in Phelan-McDermid syndrome
• Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
• Consensus recommendations on sleeping problems 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
• Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
• Depression and Catatonia Associated With Lansoprazole in an Adolescent With Phelan-McDermid Syndrome: A Case Report
• Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder
• Development of sex- and genotype-specific behavioral phenotypes in a <em>Shank3</em> mouse model for neurodevelopmental disorders
• Developmental regression in children: Current and future directions
• Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium
• Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome
• Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in <em>shank3</em> zebrafish models
• Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models
• Early-onset catatonia associated with <em>SHANK3</em> mutations: looking at the autism spectrum through the prism of psychomotor phenomena
• Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome
• Efficacity of tDCS in catatonic patients with Phelan McDermid syndrome, a case series
• Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism
• Elevation of SHANK3 Levels by Antisense Oligonucleotides Directed Against the 3'-UTR of the Human <em>SHANK3</em> mRNA
• Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9
• Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency
• Evaluation of immunological abnormalities in patients with rare syndromes
• Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome
• Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study
• Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
• Gait Abnormalities in Children with Phelan-McDermid Syndrome
• Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
• Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother
• Genetic analysis of two children with developmental delay and intellectual disability
• Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants
• Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons
• Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13
• Hyperbaric Oxygen Therapy Alleviates Social Behavior Dysfunction and Neuroinflammation in a Mouse Model for Autism Spectrum Disorders
• Improving autism identification and support for individuals assigned female at birth: clinical suggestions and research priorities
• Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome
• Intranasal Oxytocin in Pediatric Populations: Exploring the Potential for Reducing Irritability and Modulating Neural Responses: A Mini Review
• Juvenile Shank3 KO Mice Adopt Distinct Hunting Strategies during Prey Capture Learning
• Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
• Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews
• Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome
• Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report
• Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome
• Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI
• Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome
• Neuromotor Development in the <em>Shank3</em> Mouse Model of Autism Spectrum Disorder
• Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey
• Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models
• Phelan-McDermid and general anesthesia with different hypnotics
• Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene
• Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses
• Population-based study of rare epilepsy incidence in a US urban population
• Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature
• Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
• Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome
• Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
• 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
• Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study
• SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system
• Shank3 deficits in the anteromedial bed nucleus of the stria terminalis trigger an anxiety phenotype in mice
• Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling
• Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue
• Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature
• Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals
• Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents' Experiences
• Social behavioral impairments in <em>SYNGAP1</em>-related intellectual disability
• State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes
• Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor
• Sulfotransferase 4A1 Coding Sequence and Protein Structure Are Highly Conserved in Vertebrates
• The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations
• The impact of Phelan-McDermid syndrome on the child and family
• Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
• Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis
• Understanding Behavior in Phelan-McDermid Syndrome
• Updated consensus guidelines on the management of Phelan-McDermid syndrome
• Ureteropelvic junction obstruction with primary lymphoedema associated with <em>CELSR1</em> variants
• Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
• Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial
• Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review