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

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

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

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

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

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

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

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

Estimation of the number of people with Down syndrome in Latin America and the Caribbean.

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.

Tongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

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

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

Establishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors.

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

Multi-omics investigation of thyroid development and dysfunction in down syndrome.

Searching for New Possible Peripheral Biomarkers of Cognitive Decline in Down Syndrome: The Role of IL-18 Pathway and its Interaction with TGF-β1 and TNF-α.

Decoding Alzheimer's disease through down syndrome: insights from a genetically defined population.

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

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

Loss of cystathionine-β-synthase contributes to elevated OXPHOS, a vulnerability in Ara-C-resistant Myeloid Leukemia in Down syndrome.

Dampened surge in heart rate at respiratory event termination in children with Prader-Willi syndrome.

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

Genomic Imprinting, Epigenetic Dysregulation, and Neuropsychiatric Mechanisms in Prader-Willi Syndrome: A Multi-Level Integrative Review.

Four women whose pioneering contributions to science have been largely overlooked.

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

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.

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

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.

Temporal dynamics of white matter hyperintensities related to Alzheimer's disease in adults with Down syndrome.

Caregiver-reported social impacts in down syndrome regression disorder.

Generation of an induced pluripotent stem cell line (AHMUCNi004-A) from a 14-year-old male with Down syndrome.

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

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

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

A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor.

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

Tubo-ovarian abscess in a young child with suspected Prader-Willi syndrome: a complication of childhood obesity.

Development of a novel MSRE-dPCR assay for non-invasive prenatal testing of trisomy 21.

Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down 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.

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

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

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

Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization.

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

Caregiver-Reported Attainment of Developmental Skills in Down Syndrome.

Altered hepatic metabolism in Down syndrome.

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

Identification of RALY as a novel regulator of DSCR1 transcription.

Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.

Neuropeptides and the Autonomic Nervous System in Prader-Willi Syndrome.

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

Cornelia de Lange syndrome: What should a dermatologist know?

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

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Hematological Conditions in Infants With Trisomy 21.

Neuropsychiatric signatures across the Alzheimer's disease continuum in Down syndrome and sporadic forms: A biomarker-driven comparison.

GABAergic regulation of Locus coeruleus activity in necdin-deficient mice, an animal model of Prader-Willi syndrome.

Aberrant tissue mechanics and mechanotransduction during heart development in down syndrome.

Barriers, Limitations, and Experiences with Clinical Trials-Treatment in Rare Diseases with Prader-Willi Syndrome as an Example.

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

Lifetime risk of solid tumors and leukemia in Down Syndrome: a population-based Swedish matched cohort study.

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.

Posterior Fossa Group A Ependymoma in Trisomy 21.

Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study.

"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.

Attitudes to NIPT among pregnant women under 35 years of age.

Structural birth defects and leukemia risk in children with Down syndrome.

Mid-gestational cell-type-specific transcriptomic signatures in the prefrontal and superior temporal cortex in Down syndrome.

Partial Trisomy and Partial Monosomy 21 Undetected by NIPT and FISH: A Case Report and Literature Review.

Aneuploidy screening in women of advanced age in the public healthcare setting of a low- to middle- income country - an observational cohort study.

Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs.

Functional Independence in Adults With Prader-Willi Syndrome: First Report Using the FIM Instrument.

Transcriptome analyses reveal the fertility defect in the Dp(16)1Yey/+ mouse model of Down syndrome.

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

Complement pathway dysregulation and astrocyte alterations in Down syndrome: evidence from postmortem brain tissue and iPSC-derived astrocytes.

Dysregulation of RUNX1 isoforms drives mitochondrial defects during neural differentiation in down syndrome.

The placental effects of trisomy for human chromosome 21 orthologs in four mouse models of Down syndrome.

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

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

One‑carbon pathway gene expression analyses in blood samples of subjects with trisomy 21.

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.

Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome.

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

Pediatric Intensive Care Unit Admission and Outcomes in Trisomy 21 Patients: A Retrospective Analysis.

Pro‑inflammatory insulin‑resistant lipid phenotype in down syndrome identified by 1H‑NMR metabolomics in obesity-matched African‑American children and young adults.

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

Complex genotype-phenotype relationships shape the response to treatment of down syndrome childhood acute lymphoblastic leukaemia.

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

A myeloid trisomy 21-associated gene variant is protective from Alzheimer's disease.

Standard medical care versus enhanced interdisciplinary care for implementation of positive airway pressure in youth with Down syndrome: a randomised controlled trial protocol.

Altered motor coordination, vocal communication, and cerebellar circuit connectivity in mice carrying a near-complete human chromosome 21.

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

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.

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

Concurrent diagnosis of spinal muscular atrophy and trisomy 21: Value of comprehensive analysis in prenatal genetic testing.

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

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

Development of Molecular Neuropathology in Down Syndrome across the Lifespan.

Long-term growth hormone effects in Prader-Willi syndrome: A systematic review and meta-analysis.

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome.

Food responsiveness, addiction, and hyperphagia in Prader-Willi syndrome: a cross-sectional study of 210 Chinese patients.

Detection of clonal selection by multicolor flow cytometry in TAM with multiple GATA1 mutations.

Clinical Case of Comorbid Course of Metabolically Associated Fatty Liver and Pancreas Disease in a Child with Prader-Willi Syndrome.

The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Development and Validation of a Health Measure for Down Syndrome.

Clinical and economic impact of genome-wide non-invasive prenatal testing (NIPT) as a first-tier screening method compared to targeted NIPT and first-trimester combined testing: A modeling study.

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency?

[Autoimmune Regulatory Gene (AIRE) and Development of Autoimmune Thyroiditis in Down Syndrome].

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Factors affecting parental decisions for termination of pregnancy in the presence of a prenatal trisomy 21 diagnosis.

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis.

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

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Genetic and Molecular Insights into the Links Between Heat Stroke, Alzheimer's Disease, and Down Syndrome: A Mini-Review.

Healthcare access satisfaction before and during the COVID-19 pandemic among Peruvian children with down syndrome.

Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome.

Genetic predisposition to celiac disease in persons with Down syndrome in Northwestern Mexico.

Growth hormone treatment in adults with Prader-Willi syndrome: an update.

Reviewing the possible connection between cerebral amyloid angiopathy and blood-brain barrier integrity in Down syndrome.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Tau pathology differs by sex in Alzheimer's disease in Down syndrome.

Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21.

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

Altered synaptic functions in a humanized mouse model of down syndrome (TcMAC21): Implications for seizure susceptibility.

Comprehensive analysis of LncRNA-miRNA-mRNA CeRNA network associated with umbilical cord blood PBMC in down syndrome.

Daily Activities, Exercise and Endurance in Down Syndrome.

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

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

[A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis].

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

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Generational effects in Down syndrome: Enriched environment enhances functionality without reducing Alzheimer's disease risk.

Machine learning-augmented biomarkers in mid-pregnancy Down syndrome screening improve prediction of small-for-gestational-age infants.

Molecular cartography of the human down syndrome and trisomic mouse brain.

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

Weight Loss Effect of Lisdexamfetamine in Children with Severe Obesity: A Case Series.

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.

Rare features in Feingold syndrome type 1.

Trisomy 21 Disrupts Thyroid Hormones Signaling During Human iPSC-Derived Neural Differentiation In Vitro.

Beyond the usual suspects: neonatal presentation of Prader-Willi syndrome.

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21.

Down syndrome (Trisomy 21) disease-specific human embryonic stem cell (hESC) lines, UMICHe003-A/UM152-1, UMICHe004-A/UM202-1, and UMICHe005-A/UM229-1.

Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

Cross-Sectional FDG in Down Syndrome and Autosomal Dominant Alzheimer's Disease.

The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities.

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan.

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands.

Dysregulation of astrocyte-secreted pleiotrophin contributes to neuronal structural and functional deficits in Down syndrome.

Increased methylation levels of the MTHFR gene promoter in Down syndrome.

Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists' perspective: a Fetal Heart Society Research Collaborative Study.

Altered digit tip blastema differentiation and bone regeneration in skeletally mature Ts65Dn Down syndrome mice.

Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia.

[Non-Down-syndrome-related acute megakaryoblastic leukemia in children: a clinical analysis of 17 cases].

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

HLA DQA1* and HLA-DQB1* alleles and genetic susceptibility to autoimmune thyroiditis in Down syndrome children: An Indonesian study.

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

Neuropsychological profile of an adult with Down syndrome-Klinefelter syndrome.

Astrocytopathy Is Associated with CA1 Synaptic Dysfunction in a Mouse Model of Down Syndrome.

Specialists' perceptions of clinical instruments, practices, and staging of DS-AD: Results from an international survey.

Caregiver Interviews Regarding Health in Down Syndrome.

Prenatal diagnosis of partial duplication chromosome 21q11.2-21q21.1: A case report and literature review.

Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic.

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

Long-term impact of growth hormone therapy on mortality and type 2 diabetes in Prader-Willi syndrome: a nationwide cohort study.

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease.

Development of disease-specific growth charts for Argentine Prader-Willi syndrome without growth hormone treatment.

The Occurrence of Obstructive Sleep Apnea and Its Association With Alzheimer Dementia in Medicaid-Enrolled Adults With Down Syndrome, 2011-2019.

A Four-Year Retrospective Study of Amniocentesis in a Tertiary Care Center in South India-Lessons Learnt.

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.

Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.

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.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Altered Behavior and Neuronal Activity with Paternal Snord116 Deletion.

Vertebrate and Invertebrate Animal Models for the Study of Down Syndrome.