Foundations of an Ovine Model of Fragile X Syndrome.

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

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

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

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

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.

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

Clinical variation in Lowe syndrome: what and how?

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

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

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

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

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations.

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

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome.

A family case of a rare Xq28 duplication.

Novel MCT8 mutation: diagnostic value of T3/T4 ratio.

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.

The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.

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.

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

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

MCT8 Deficiency in Females.

Frontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity.

Globally Reduced Brain Volume in Rett Syndrome.

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.

[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].

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts.

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype.

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Increased seizure susceptibility in thyroid hormone transporter Mct8/Oatp1c1 knockout mice is associated with altered neurotransmitter systems development.

A novel approach to metabolic profiling in case models of MECP2-related disorders.

Pain experience of children with Christianson syndrome.

Broadening the Phenotype Spectrum of MECP2 Variants in Men.

Vitamin D modulates the content of inflammatory microRNAs in extracellular vesicles from human adipocyte cells in inflammatory context.

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

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

Rare DDX3X Gene Mutation in a Male Newborn With Super-refractory Status Epilepticus Responding to Lacosamide Drug Therapy.

First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates.

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function.

Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Effects of a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic in an in vitro and in vivo model of CDKL5 deficiency disorder.

Detection of ictal apnea refines the clinical spectrum of ATRX syndrome.

Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Effects of a combined neuropsychological and cognitive behavioral group therapy on young adults with Fragile X Syndrome: An explorative study.

Behavioral, neurotransmitter and transcriptomic analyses in male and female Fmr1 KO mice.

Pharmacological inhibition of the CB1 cannabinoid receptor restores abnormal brain mitochondrial CB1 receptor expression and rescues bioenergetic and cognitive defects in a female mouse model of Rett syndrome.

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.

Dravet-like syndrome with PCDH19 mutations in Taiwan - A multicenter study.

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

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

Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

DDX3X syndrome: From clinical phenotypes to biological insights.

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.

Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.

REM sleep behavior disorder in Brunner syndrome.

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.

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

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.

PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

A 10-Year Survival-Trend Analysis of Low-Grade Glioma and Treatment Patterns from an LMIC.

Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome.

Trofinetide-a new chapter in rett syndrome's treatment.

DDX3X Syndrome Behavioral Manifestations with Particular Emphasis on Psycho-Pathological Symptoms-A Review.

"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.

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

Tug-of-Peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 Duplication Syndrome of Autism.

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.

Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.

Rebalancing polyamine levels to treat Snyder-Robinson syndrome.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Epigenetic Causes of Overgrowth Syndromes.

NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.

Phenotypic variability to medication management: an update on fragile X syndrome.

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

Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.

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

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.

Börjeson-Forssman-Lehmann syndrome: A case report.

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function.

Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C.

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility.

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.

CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.

Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion.

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review.

Aberrant brain functional and structural developments in MECP2 duplication rats.

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder.

Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency.

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.

Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice.

SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.

Assessing the Burden on Caregivers of MECP2 Duplication Syndrome.

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Transcriptomic analysis of Simpson Golabi Behmel syndrome cells during differentiation exhibit BAT-like function.

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.

Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism.

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).

Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.

Epilepsy and Sleep in the ATR-X Syndrome.

Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.

Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.

Novel preclinical model for CDKL5 deficiency disorder.

Sleep and daytime behavior in individuals with Christianson Syndrome.

Mitochondrial bioenergetics of astrocytes in Fragile X syndrome: new perspectives on culture conditions and sex effects.

O-GlcNAc transferase OGT-1 and the ubiquitin ligase EEL-1 modulate seizure susceptibility in C. elegans.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series.

A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.

Effects of chronic inhibition of phosphodiesterase-4D on behavior and regional rates of cerebral protein synthesis in a mouse model of fragile X syndrome.

Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.

Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.

Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation.

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.

Glial-Specific Deletion of Med12 Results in Rapid Hearing Loss via Degradation of the Stria Vascularis.

Treatment with the Bacterial Toxin CNF1 Selectively Rescues Cognitive and Brain Mitochondrial Deficits in a Female Mouse Model of Rett Syndrome Carrying a MeCP2-Null Mutation.

Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls.

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism.

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.

Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions.

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome.

Clinical Characteristics of Fragile X Syndrome Patients in Japan.

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Psychosis and Catatonia in Fragile X Syndrome.

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.

Oral Manifestations of Rett Syndrome-A Systematic Review.

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.

Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome.

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.