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

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.

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

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.

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.

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

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

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

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].

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.

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

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.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

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

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

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

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

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.

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.

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.

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

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.

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.

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

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

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

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

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.

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

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.

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

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

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.

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

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

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.

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

[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.

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

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

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.

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

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.

miRNAs mediated Hsa21 gene suppression as potential therapeutic agent for Down syndrome: molecular dynamics and MM/PBSA-based study.

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

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

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.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Olfactory Deficits in Fragile X Syndrome.

Cochlear Implantation Via Extended Endaural Incision in a Patient With Congenital Ear Malformation.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease.

MiR-874-3p suppresses TNF-α-induced inflammation in adipocytes by targeting nucleolin.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Single-cell atlas of the developing Down syndrome brain cortex.

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.

Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

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

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.

What Motivates Parents of Young Children With Down Syndrome to Participate in Research: A Focus Group Analysis.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

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.

Pregabalin in Pregnancy: Major Congenital Malformations, Other Birth Outcomes, and Neurodevelopmental Outcomes.

RO4938581, a GABAA-α5 negative allosteric modulator rescued behavioral and EEG phenotypes of a mouse model of Dup15q syndrome.

The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

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

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Deep Learning-Based Continuous QT Monitoring to Identify High-Risk Prolongation Events After Class III Antiarrhythmic Initiation.

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.

Systemic administration of the OGT inhibitor OSMI-1 normalizes hippocampal O-GlcNAcylation and improves recognition memory, redox balance, and brain mitochondrial homeostasis in a Rett syndrome mouse model.

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Prevalence and Modifiable Risk Factors of Dementia in People With Down Syndrome: Cross-Sectional Study of Japan in Collaboration With the Intellectual Diversity for Goodness Research Consortium (INDIGO-2019).

Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis.

Significant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

"Being brave, being seen, and having your voice heard": Perspectives of self-advocates and families toward accessible and impactful research of Alzheimer's disease in down syndrome.

Genetic Syndromes Including Intellectual Disability and Different Cancer Types.

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.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome.

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

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

Lennox-Gastaut syndrome: Comorbidities and clinical implications.

Anesthetic Management of a Patient With Myhre Syndrome.

Ambulatory General Anesthesia for Dental Treatment in a Patient With Williams Syndrome and Supravalvular Aortic Restenosis: A Case Report.

Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea.

Down Syndrome in British Maternity Care: Mothers' Experiences of Prenatal Testing and Receiving a Prenatal or Postnatal Diagnosis.

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

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

Hepatic Effects, Potential Drug-Induced Liver Injury, and Other Liver Safety Considerations of Chimeric Antigen Receptor T-Cell (CAR-T) Therapy in the New Era of Expanding Non-oncology Indications: Literature Review and Expert Consensus.

The Hemispheric Imbalance: A Double Encounter with Dyke-Davidoff-Masson Syndrome.

Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Vocabulary and Syntactic Development in Japanese Children With Autism Spectrum Disorder and Down Syndrome Accompanied by Intellectual Disability.

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.

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Preventing Differentiation Towards Primitive Macrophages in Stem Cells With Down Syndrome.

Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.

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

Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

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

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

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.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.

Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency.

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

The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis.

A rare case report of Sturge-Weber syndrome type 2 variant on Roach scale.

ZMYND11 Restrains KMT2A to Enable a Neuronal Developmental Program.

Clinical variation in Lowe syndrome: what and how?

Proteome Signature of Alzheimer-Like Phenotypes in Frontal Cortices From Young and Old Individuals With Down Syndrome.

Nutrition Practices Reported by Families of Children with Down Syndrome, Autism, and Without an Intellectual or Developmental Disability.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

Unveiling the alterations of action processing and mu rhythm in Williams Syndrome.

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

Targeting dysregulated CB1 receptors in a Down syndrome mouse model improves neurological outcomes.

Accelerated Tempo of Cortical Neurogenesis in Down Syndrome.

Monogenic defects in Russian children with autism spectrum disorders.

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

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

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

Expanding the Phenotype Spectrum of β-Mannosidosis.

[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model.

Development of Molecular Neuropathology in Down Syndrome across the Lifespan.

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.