Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome.

The disproportionate burden of severe obesity in youth with special needs and the role of metabolic and bariatric surgery.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Tuberous sclerosis complex.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Dental Implants in Adults With Intellectual Disabilities: A Multicenter Retrospective Study. Part 1: Implant Outcomes.

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

Calcium release channel deficiency syndrome in patients diagnosed with idiopathic ventricular fibrillation and decedents classified as sudden unexplained death in the young.

Uncovering targets and molecular pathways for personalizing treatment in epilepsy.

Medicaid home and community based services are vital for adults with intellectual and developmental disabilities: A descriptive study of service use among all adult enrollees, 2022.

Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families.

Cognitive, Behavioral, and Emotional Manifestations in Nodding Syndrome: A Neuropsychological Narrative Review.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Input-and cell-type-specific developmental alterations to thalamic synapses in a Dravet syndrome mouse model.

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.

First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.

Psilocybin improves novel object recognition in a rat model of Fragile X Syndrome through the modulation of the BDNF/TrkB signaling pathway.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Management of Pathological Dental Attrition in Prader-Willi Syndrome: A Case Report Using the Personalized Radboud Strategy.

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.

GABAB Receptor signaling in CA1 Pyramidal Cells is not Regulated by Aging in the APP/PS1 Mouse Model of Amyloid Pathology.

Hippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.

Type 2 Diabetes in a Portuguese Adolescent With Hijazi-Reis Syndrome.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

AAV-mediated neuronal expression of FOXG1 restores oligodendrocyte maturation, myelination, and hippocampal structure in mouse models of FOXG1 syndrome.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.

Intellectual Developmental Disorder of Autosomal Dominant 61 Caused by a MED13 Variant Presenting With Congenital Unilateral Sensorineural Hearing Loss: A Case Report.

Olfactory Deficits in Fragile X Syndrome.

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Chinese clinical practice guidelines for super minimally invasive surgery of digestive tract tumors.

VPS13B recruits lipid vesicles to promote mitochondrial fission and quality control.

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Doublecortin-expressing cells are selectively altered in the piriform cortex but not in neurogenic areas of symptomatic Mecp2-heterozygous mice.

Anesthetic Management of a Patient With Myhre Syndrome.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Delayed onset of striatal projection neuron hyperexcitability in Fmr1-/y mice.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder.

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

The Bounce-back Effect: What Happens After Cessation of Low-dose Semaglutide in People With HIV.

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Effects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

ZMYND11 Restrains KMT2A to Enable a Neuronal Developmental Program.

Ganaxolone, an approved therapy for CDKL5-Deficiency Disorder, is an inhibitor of PTP1B.

JAK1/2 Inhibition Delays Cachexia and Improves Survival through Increased Food Intake.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

Astrocytic Chromatin Remodeler ATRX Gates Hippocampal Memory Consolidation Through Metabolic and Synaptic Regulation.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Expanding the Phenotype Spectrum of β-Mannosidosis.

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Gene Therapy for Fragile X Syndrome, Challenges, and Promises.

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

KCNT1 (Slack/Slo2.2) and KCNT2 (Slick/Slo2.1) Dysregulation in Intellectual Disability and Behavioral Phenotypes: A Systematic Review.

Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models.

Spermine synthase in Snyder-Robinson syndrome and cancer.

ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.

In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

The Emerging Role of Phosphodiesterase Inhibitors in Fragile X Syndrome and Autism Spectrum Disorder.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.

A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Screen time in children with neurodevelopmental disorders and their parents: a survey-based study in a paediatric Italian sample.

Genomic Testing in Australia: A Budget Impact Analysis Using Diffusion Modeling From a Healthcare System Perspective.

Removing Barriers to Bariatric Surgery: The Role of Intellectual and Developmental Disabilities on Outcomes in Adolescents and Young Adults.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.

Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.

Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability.

Rare features in Feingold syndrome type 1.

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1.

FX ENTRAIN: scientific context, study design, and biomarker driven brain-computer interfaces in neurodevelopmental conditions.

Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Optimized in vivo base editing restores auditory function in a DFNA15 mouse model.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome.

A Novel Frameshift Variant in the hnRNPK Gene Associated with Au-Kline Syndrome Identified During Prenatal Diagnosis: A Case Report.

Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.

Novel neuropathological observations in an adult with Dravet syndrome.

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Novel variants in ZNF462 and phenotype update in patients with Weiss-Kruszka syndrome: a case series.

Chromosome 15q Structural Variants Associated with Syndromic Autism Spectrum Disorder: Clinical and Genomic Insights from Three Case Reports in a Brazilian Reference Center.

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

The role of resistance training in mitigating cancer-induced cachexia: A systematic review.

Test-Retest Reliability and Variability Over Time for Repeated Audiometric Assessment in Individuals With Down Syndrome.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Exaggerated NMDA Receptor-Primed Metaplasticity via SK Channel Dysregulation in Fmr1 Knockout Mice.

A 17-year-old female with Down syndrome and Crohn's disease: a rare case report from Syria.

Benefits of Maternal Choline Supplementation on Aged Basal Forebrain Cholinergic Neurons (BFCNs) in a Mouse Model of Down Syndrome and Alzheimer's Disease.

Loss of Necdin causes social deficit and aberrant synaptic function through destabilization of SynGAP.

Severe Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

State-of-the-art management of Dravet syndrome.

The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification.

Reduced Muscle Loss in Patients With NSCLC Taking Fibrates: Findings From a Retrospective Observational Study.

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Clinically Meaningful Reduction in Drop Seizures in Patients with Lennox-Gastaut Syndrome Treated with Cannabidiol: Post Hoc Analysis of Phase 3 Clinical Trials.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Restoring DSCAM expression rescues neuronal morphology and axon guidance deficits in Down syndrome.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

FMRP-dependent translational control negatively regulates adapter protein complex 2-mediated endocytosis.

A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome.

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.

FMRP regulation of STAT3-MYC signaling is critical for adult hippocampal neurogenesis and cognitive flexibility.

Tatton-Brown-Rahman-Syndrome-associated DNMT3A mutations de-repress cortical interneuron differentiation to disrupt neuronal network function.

Late onset of striatal projection neuron hyperexcitability in Fmr1 -/y mice.

FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1.

Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1-null Mice.

Persistent hypokalemia due to Conn's syndrome resolved by robot-assisted laparoscopic adrenalectomy. A correct diagnostic approach for proper surgical therapy. Case report.

[Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene].

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

Effects of 12 Weeks of Chromium, Phyllanthus emblica Fruit Extract, and Shilajit Supplementation on Markers of Cardiometabolic Health, Fitness, and Weight Loss in Men and Women with Risk Factors to Metabolic Syndrome Initiating an Exercise and Diet Intervention: A Randomized Double-Blind, Placebo-Controlled Trial.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Functional analysis of human EED variants using Drosophila.

A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes.

Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.

Altered Microglial Plasticity in the Periaqueductal Grey of Pre-Symptomatic Mecp2-Heterozygous Mice Following Early-Life Stress.

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.

First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome.

The role of Goldilocks protein kinase DYRK1A in embryonic development.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Lifting Limits: The Impact of Strength Training in Down Syndrome-A Systematic Review and Meta-Analysis.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

The genetic and phenotypic spectrum of GABRB1-related disorders.

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Unraveling Glypican-3: From Structural to Pathophysiological Roles and Mechanisms-An Integrative Perspective.