EEG power spectral and microstate analyses in the 22q11.2 deletion syndrome: from genetic risk to schizophrenia.

Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.

DiGeorge for the Otolaryngologist: A State-of-the-Art Review.

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies.

Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections.

22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously.

Navigating Services in the UK: The Lived Experiences of Families Affected by 22q11.2 Deletion Syndrome.

Quantitative susceptibility mapping of deep brain nuclei in 22q11.2 deletion syndrome.

Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.

Challenging Case: Complex Developmental Care and Management in a Child With a Chromosomal Deletion.

Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies.

Aripiprazole for treatment of attenuated psychosis syndrome in an adolescent with 22q11.21 deletion syndrome: A case report.

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.

Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk.

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.

Developmental Selective GSK3α Inhibition Rescues Working Memory Deficits in a Mouse Model of Schizophrenia Predisposition.

Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.

Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.

Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells.

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.

Tracheal Compression on Chest X-ray Leading to the Diagnosis of Right Aortic Arch in 22q11.2 Deletion Syndrome.

Cognitive-Developmental Mechanisms in Hallucinations.

Natural history study of scoliosis in patients with 22q11.2 deletion syndrome, starting before disease onset.

The acoustic startle response in 22q11 deletion syndrome: from animal models to humans.

Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome: an exploratory study.

Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three-Cohort European Study.

Autoantibodies in patients with 22q11.2 deletion syndrome and psychosis.

Oxytocin seals the blood-brain barrier, improving 22q11.2 deletion syndrome trajectories.

Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome.

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.

Streamlined Preoperative Evaluation of Velopharyngeal Dysfunction: A Single-Session Protocol for Speech MRI and Carotid MRA.

Presence, Severity, and Functional Associations of Incomplete Hippocampal Inversion in 22q11.2 Deletion Syndrome.

Self-Esteem and Psychopathology Differentially Relate to Real-Life and Social Functioning in People With 22q11.2 Deletion Syndrome.

Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography angiography.

Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework.

Prevalence of cholesteatoma in children with 22q11.2 deletion syndrome.

Children With 22.Q.11.2 Deletion Syndrome: Sleep-Disordered Breathing and Management.

Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study.

Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series.

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.

Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.

Driving Innovation to Support Pupils with SEND Through Co-Production in Education and Research: Participatory Action Research with 22q11.2 Deletion Syndrome Families in England.

Development of a TaqMan-based dosage analysis PCR assay for the molecular diagnosis of 22q11.2 deletion syndrome.

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

Investigating psychiatric morbidity, hopelessness and suicide risk in patients with 22q11.2 deletion syndrome: a case-control study.

Muscle Weakness in an Adult With 22q11.2 Deletion Syndrome.

Sensory Processing Challenges in Children with Neurodevelopmental Disorders and Genetic Conditions: An Observational Study.

Hearing Loss in Children with 22q11.2 Deletion Syndrome.

European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia.

An Assessment of Adverse Events in Patients with 22q11.2 Deletion Syndrome Undergoing Palatoplasty: An Analysis of the NSQIP Pediatric Database.

Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome.

The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.

Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects.

Unique Functional Neuroimaging Signatures of Genetic Versus Clinical High Risk for Psychosis.

An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.

The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.

Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.

Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.

Cancer in 22q11.2 deletion syndrome: A case report and literature review.

Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS.

Aerodynamic Study of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome.

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.

Human Genetics of Truncus Arteriosus.

Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p.

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.

Reduced amplitude and slowed latency of the acoustic startle response in adolescents and adults with 22q11.2 deletion syndrome.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.

Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.

The impact of social-environmental factors on IQ in syndromic intellectual developmental disabilities.

Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.

A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.

22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features.

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.

Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs).

Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities.

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders.

Lymphoblast transcriptome analysis in 22q11.2 deletion syndrome individuals with schizophrenia-spectrum disorder.

An Infant Diagnosed With 22q11.2 Deletion Syndrome Following Frequent Apneic Attacks.

Using transcranial alternating current stimulation to enhance working memory skills in youths with 22q11.2 deletion syndrome: A randomized double-blind sham-controlled study.

Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.

Mental health, coping, and protective factors in mothers of children with 22q11.2 deletion syndrome.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review.

Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.

Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review.

Dgcr8 functions in the secondary heart field for outflow tract and right ventricle development in mammals.

22q11.2 Deletion Syndrome Diagnosed 47 Years After Surgery for Tetralogy of Fallot.

Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.

Surgical Management of Velopharyngeal Dysfunction.

Hypocalcemia and Graves' disease associated with 22q11.2 deletion syndrome.

Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

Omenn syndrome in a 10-month-old male with athymia and VACTERL association.

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions.

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Distinct neuroanatomical and neuropsychological features of Down syndrome compared to related neurodevelopmental disorders: a systematic review.

Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels.

DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion.

[Prenatally detected aortic arch anomalies and their consequences after birth].

Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome-A Retrospective Analysis.

Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives.

Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.

Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.

Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals.

Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome.

Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 22q11.2 deletion syndrome as a model condition.

Multivariate patterns of disrupted sleep longitudinally predict affective vulnerability to psychosis in 22q11.2 Deletion Syndrome.

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.

Neurobehavioral risk factors influence prevalence and severity of hazardous substance use in youth at genetic and clinical high risk for psychosis.

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.

Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

Aberrant right subclavian artery: embryology, prenatal diagnosis and clinical significance.

Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations.

A case study of the utilization of clozapine treatment for treatment-resistant schizophrenia associated with 22q11.2 deletion syndrome.

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.

Educational challenges for 22q11.2 deletion syndrome in Japan: Findings from a mixed methods survey.

22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.

Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services.

Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome.

Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome.

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.

Tonsillectomy in Children with 22q11.2 Deletion Syndrome.

The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome.

Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome.

The 22q11.2 Low Copy Repeats.

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

A method of large DNA fragment enrichment for nanopore sequencing in region 22q11.2.

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.

The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients.

Immune status of the murine 22q11.2 deletion syndrome model.

Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.

COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS.

Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference.

The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study.

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study.

Bayesian inference of molecular kinetic parameters from astrocyte calcium imaging data.

Laryngeal web with 22q11.2 deletion syndrome.

Sleep EEG in young people with 22q11.2 deletion syndrome: A cross-sectional study of slow-waves, spindles and correlations with memory and neurodevelopmental symptoms.

Deletion Syndrome 22q11.2: A Systematic Review.

Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy.

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein-Taybi syndrome.

Sequential inhibitory plasticities in hippocampal area CA2 and social memory formation.

Post-traumatic stress in adults with 22q11.2 deletion syndrome.

Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis.

Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report.

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.

Experimental and computational analyses of calcium dynamics in 22q11.2 deletion model astrocytes.

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.

Genome-wide tandem repeat expansions contribute to schizophrenia risk.

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.

Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes.

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

Talking with children and young people with 22q11DS about their mental health, behaviour, learning and communication.

Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Increased Central Auditory Gain and Decreased Parvalbumin-Positive Cortical Interneuron Density in the Df1/+ Mouse Model of Schizophrenia Correlate With Hearing Impairment.

Crossed pulmonary arteries and DiGeorge syndrome: case reports and literature review.

The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.

An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

Downregulation of miR-185 is a common pathogenic event in 22q11.2 deletion syndrome-related and idiopathic schizophrenia.

A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment.

Neurological manifestation of 22q11.2 deletion syndrome.

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.

Characterizing Daily-Life Social Interactions in Adolescents and Young Adults with Neurodevelopmental Disorders: A Comparison Between Individuals with Autism Spectrum Disorders and 22q11.2 Deletion Syndrome.

A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.

Impact of Equine-Assisted Interventions on Heart Rate Variability in Two Participants with 22q11.2 Deletion Syndrome: A Pilot Study.

Parents' perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS).

Clinical Manifestations of 22q11.2 Deletion Syndrome.

Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.

22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.

Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia.