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

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

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

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

Foundations of an Ovine Model of Fragile X Syndrome.

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

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

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

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

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

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

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

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

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

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.

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

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

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

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

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

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

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

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

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

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.

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

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

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.

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

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

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

FMR1 mutant marmosets show fragile X syndrome phenotypes.

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

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review].

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

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

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex.

Exploring Pediatricians' Implicit Bias Related to Newborns' Intellectual Disability Risk: Merged Vignette and Implicit Association Test (IAT) Results.

Tcf4 Deficiency causes recurrent seizures in mice.

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios.

Prenatal Diagnosis of Arboleda-Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction.

Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings.

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

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

Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.

A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine.

Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome.

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly.

[Clinical feature and genetic analysis of a case of X-linked alpha-thalassemia mental retardation syndrome neonate caused by ATRX gene variant and literature review].

Your baby has down syndrome: a reflexive thematic analysis of breaking the news to parents.

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features.

Interneuron-specific dual-AAV SCN1A gene replacement corrects epileptic phenotypes in mouse models of Dravet syndrome.

The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

Differential effects of sound repetition rate on auditory cortex development and behavior in fragile X syndrome mouse model.

The correct connectivity of the DG-CA3 circuits involved in declarative memory processes depends on Vangl2-dependent planar cell polarity signaling.

The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes.

Gut Microbiota Influences Developmental Anesthetic Neurotoxicity in Neonatal Rats.

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

The WAVE complex in developmental and adulthood brain disorders.

Acute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report.

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

Dampened α7 nAChR activity contributes to audiogenic seizures and hyperactivity in a mouse model of Fragile X Syndrome.

Epigenetic Modifications and Neuroplasticity in the Pathogenesis of Depression: A Focus on Early Life Stress.

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.

KBG Syndrome in 16 Indian Individuals.

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny.

Reversal of neurodevelopmental impairment and cognitive enhancement by pharmacological intervention with the polyphenol polydatin in a Down syndrome model.

A long way to syndromic short stature.

Lung Recruitment Before Surfactant Administration in Extremely Preterm Neonates: 2-Year Follow-Up of a Randomized Clinical Trial.

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder.

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Early Adversity and Socioeconomic Factors in Pediatric Multiple Sclerosis: A Case-Control Study.

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Neurodevelopment Is Dependent on Maternal Diet: Placenta and Brain Glucose Transporters GLUT1 and GLUT3.

Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.

Mothers' reflections on the diagnosis and birth of their child with Down syndrome: Variability based on the timing of the diagnosis.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Tailored vs. General COVID-19 prevention for adults with mental disabilities residing in group homes: a randomized controlled effectiveness-implementation trial.

Using simulation modeling to inform intervention and implementation selection in a rapid stakeholder-engaged hybrid effectiveness-implementation randomized trial.

Predictors of COVID-19 infection and hospitalization in group homes for individuals with intellectual and/or developmental disabilities.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.

Heterozygous variants in USP25 cause genetic generalized epilepsy.

TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.

3,3',5-Triiodothyroacetic Acid Transporters.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Hippocampal proteome comparison of infant and adult Fmr1 deficiency mice reveals adult-related changes associated with postsynaptic density.

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

FMRP regulates postnatal neuronal migration via MAP1B.

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency.

Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome.

Cornelia de Lange Spectrum.

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

Development and validation of a new algorithm for improved cardiovascular risk prediction.

Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB.

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Results of inaugural international Down Syndrome Societal Services and Supports survey.

Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.

Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.

Developmental, sensory and behavioral outcomes among infants and toddlers with prenatal alcohol exposure.

Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice.

The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.

Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

AAV-mediated interneuron-specific gene replacement for Dravet syndrome.

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

Distinct manifestations and potential mechanisms of seizures due to cortical versus white matter injury in children.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis.

BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.

Postnatal outcome of children with antenatal colonic hyperechogenicity.

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Neocortical neuronal production and maturation defects in the TcMAC21 mouse model of Down syndrome.

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

A mouse model of ATRX deficiency with cognitive deficits and autistic traits.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

An Infant With Primrose Syndrome: A Case Report.

New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.

Deletion of the Neuronal Transcription Factor Satb1 Induced Disturbance of the Kinome and Mechanisms of Hypoxic Preconditioning.

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.

Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.

[Neonatal hypoxic ischemic encephalopathy. Progress and new treatments according to the pathophysiological basis of the injury].

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.

A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

The histone chaperone function of Daxx is dispensable for embryonic development.

Neurodevelopment and early pharmacological interventions in Fragile X Syndrome.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Medicaid Enrollment and Service Use Among Adults With Down Syndrome.

Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome.

Abnormal chromatin remodeling caused by ARID1A deletion leads to malformation of the dentate gyrus.

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.

Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome.

Heart Rate Variability Code: Does It Exist and Can We Hack It?

Predicting Fetal Alcohol Spectrum Disorders Using Machine Learning Techniques: Multisite Retrospective Cohort Study.

Improvement of sensory deficits in fragile X mice by increasing cortical interneuron activity after the critical period.

Epigenetic Causes of Overgrowth Syndromes.

Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.

Bilirubin-Induced Transcriptomic Imprinting in Neonatal Hyperbilirubinemia.

Proximal 1q21 duplication: A syndrome or a susceptibility locus?

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

Dermatological findings in Rubinstein-Taybi Syndrome.

Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability.

NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome.

Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin -lineage cells, generates a specific suite of brain, behavioral and molecular pathologies.

Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder.

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.

Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT).

The effect of single-cell knockout of Fragile X Messenger Ribonucleoprotein on synaptic structural plasticity.

Group Home Staff Experiences With Work and Health in the COVID-19 Pandemic in Massachusetts.

A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.