Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

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

Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.

Growth Guidance Surgery: Factors Associated With Complications.

A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

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.

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

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

The R203W substitution drives PACS-1 syndrome by disrupting intramolecular regulation.

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

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Global trends in psychosexual and emotional health challenges among breast cancer survivors (1999-2024): Implications for public health and survivorship care.

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

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

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

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription.

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.

Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Factors associated with social participation among children with fragile X syndrome.

Definitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders.

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

François Pourfour du Petit (1664-1741): a pioneer in experimental medicine.

Tuberous sclerosis complex.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

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.

Endotypic traits and lung function in patients with obstructive sleep apnea comorbid with obesity hypoventilation syndrome.

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

Impaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines.

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.

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

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

The TBCK-PPP1R21-FERRY3/C12orf4 complex: a RAB5-GAP brake essential for endo-lysosomal homeostasis.

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

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.

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly.

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Metabolism-corrected propofol exposure intensity and long-term intelligence quotient in pediatric febrile infection-related epilepsy syndrome: a retrospective cohort study.

[Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review].

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

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.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

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

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

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

Circulating microRNAs as biomarkers in pediatric epilepsy: A longitudinal cohort study.

Recurrent Severe Hypothermia as a Manifestation of Central Thermoregulatory Dysfunction in a Patient With Cerebral Palsy and Shaken Baby Syndrome.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.

RNAi-Induced Expression of Paternal UBE3A.

Foundations of an Ovine Model of Fragile X Syndrome.

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

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Predictive nomogram for postsurgical gastroparesis syndrome and survival outcomes following distal gastrectomy: an in-depth analysis.

Preventive vaccines for hereditary cancer syndromes.

Randomized phase 2b dose-escalation trial of stem cell therapy with laromestrocel for aging frailty.

Cowden Syndrome: Imaging Review and Cancer Surveillance.

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

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.

An Online Pilates Program for People with Hypermobility: A Pragmatic Clinical Trial Looking at Function, Interoception, Kinesiophobia, and Physical Activity Levels.

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

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.

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability.

Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

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

Identification of novel FOXP1 variants in four unrelated patients with intellectual disability and speech impairment.

POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.

Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

Neuronal SEL1L-HRD1 ER-associated degradation is essential for motor function and survival in mice.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Habilitative and rehabilitative educational interventions as protective factors against cognitive decline in adults with Down syndrome: A retrospective study.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Cognitive Predictors of Adaptive Behaviour in Children With Down Syndrome: A Systematic Review.

Mendelian randomization analysis of labor anesthesia and adverse neonatal outcomes.

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

A case of Kabuki syndrome with congenital pulmonary airway malformation.

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

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Factors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.

Flexibility in the Modelling of Comparative Effectiveness in the Absence of Head-to-Head Comparisons in the NICE Single Technology Appraisal of Fenfluramine for Treating Seizures Associated with Lennox-Gastaut Syndrome: An External Assessment Group Perspective.

Double Crush Syndrome in Surgically-Treated Lumbosacral Radiculopathy: Prevalence, Risk Factors, and Clinical Implications.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Long-term Oral Management for 2q37 Deletion Syndrome Patient.

Obstructive sleep apnea in adults with Down syndrome: body composition, metabolic profile and cognitive status.

Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants.

Hematologic indices in pediatric sleep-disordered breathing: a retrospective case-control study.

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

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

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Duolingo-induced seizures in GAD65 IgG associated autoimmune epilepsy.

Navigating sleep apnea in Scandinavia - a journey of contrasts.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

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.

Dental rehabilitation under general anesthesia in an outpatient setting for a child with a heterozygous BCL11B variant: a case report.

Spindle density relates to cognitive outcomes in infantile epileptic spasms syndrome with unknown etiology: A retrospective cohort study.

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

Expert-level probabilistic breathing event detector informs phenotyping of sleep apnea.

Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy.

Single institution assessment of physician compliance and patient uptake with guideline directed aspirin therapy in the prevention of colorectal cancer in lynch syndrome.

Mitigation of Oxidative Stress Pathways in the Diabetic Cornea and Lacrimal Glands Contributes to the Rapid Reversal of Diabetic Dry Eye by Naltrexone.

Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation.

Alpha oscillations are dysrhythmic in Fragile X syndrome.

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Crosstalk of KCNH1 and KCNH5 gain-of-function mutations leading to epilepsy and neurodevelopmental disorders.

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

The Infant and Toddler Developmental Profile of Kleefstra Syndrome.

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.

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.

KCC2 Activation Reverses Neurophysiological and Behavioral Deficits in Female Rett Mice.

Neuropsychological findings in a young adult with congenital bilateral perisylvian syndrome: A case report.

The Untamed Disease: New Perceptions and Medical Responses to Zhang in the Lingnan Region during the Song Dynasty.

[Analysis of variants of VPS13B gene in a child with Cohen syndrome].

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

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

Parental perceptions and attitudes towards the inclusion of children with neurodevelopmental, physical and sensory disabilities.

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Life expectancy of people with intellectual disability: a retrospective cohort study from New South Wales, Australia.

Brain aging in neurodevelopmental disorders: a narrative review of oxidative, inflammatory, and mitochondrial mechanisms.

Tics in autism spectrum and in intellectual disability.

Outcomes of an Exercise Intervention in Adults With Down Syndrome and Congenital Heart Disease: A Secondary Analysis.

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

Safety, Tolerability, and Pharmacokinetics of Subcutaneous Extended-Release Injectable Olanzapine in Patients with Schizophrenia and Schizoaffective Disorder.

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion.

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

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

AsPNA Clinical Practice Guidelines for the management of infection-related glomerulonephritis.

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

Attitudes Towards Medical Research Participation Among Those With Down Syndrome and Their Caregivers.

Elevated somatostatin interneuron long-term potentiation minimally regulates temporoammonic plasticity in a mouse model of Fragile X Syndrome.

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.

ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria.

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

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.

Generation of a human induced pluripotent stem cell line (FDIBSi002-A) derived from a patient with DYRK1A syndrome carrying a heterozygous DYRK1A mutation (c.1042G>A).

Intellectual function and psychiatric comorbidities in patients with epilepsy with eyelid myoclonia.

Associations between receptive and expressive vocabulary and early literacy in young students with intellectual disabilities using AAC.

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Simultaneous occurrence of bilateral retroperitoneal neuroblastoma and bifocal malignant mixed germ cell tumor in a pediatric patient with 16p11.2 microdeletion syndrome: a case report.