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

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

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

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

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

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.

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

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

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

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

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.

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

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

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

A Zebrafish Seizure Model of cblX Syndrome Reveals a Dose-Dependent Response to mTor Inhibition.

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.

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

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.

Thyrotoxicosis in MCT8 deficiency.

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

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

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

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.

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

Doublecortin-expressing cells are selectively altered in the piriform cortex but not in neurogenic areas of symptomatic Mecp2-heterozygous mice.

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

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.

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

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

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

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.

Monogenic defects in Russian children with autism spectrum disorders.

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

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.

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

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

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

ATRX: From Chromatin Remodeling to Disease.

Are NONO variants linked to congenital heart disease? Patient reports and review.

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

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

Spermine synthase in Snyder-Robinson syndrome and cancer.

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

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

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

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

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

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

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

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.

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies.

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.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

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

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Striking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome.

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.

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.

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

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

[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].

Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.

Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.

Phase separated condensates of ATRX regulate neural progenitor identity.

Integration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.

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.

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and Genetic Insights From a Case Report.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

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

[Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene].

Tiratricol: First Approval.

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Emerging roles for E3 ubiquitin ligases in neural development and disease.

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

Structural insights into tRNA recognition of the human FTSJ1-THADA complex.

Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype.

ATRX ADD domain is a versatile module for recognizing macroH2A, H3, and beyond.

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

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

MCT8 Deficiency in Females.

A Computational Approach to Identify Novel Protein Targets Uncovers New Potential Mechanisms of Action of Mirtazapine S(+) and R(-) Enantiomers in Rett Syndrome.

Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A.

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

Turner Syndrome Complicated by a NONO Gene Variant.

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Globally Reduced Brain Volume in Rett Syndrome.

Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome.

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

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

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].

First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.

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

Molecular Characterization and Clinical Outcomes of Pancreatic Neuroendocrine Neoplasms Harboring PAK4-NAMPT Alterations.

Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

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.

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

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.

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

Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report.

Christianson Syndrome Family Experiences: Results From Caregiver Interviews.

Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.

Structural insights into thyroid hormone transporter MCT8.

Allan-Herndon-Dudley Syndrome.

Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report.

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency.

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

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

[Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type].

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

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome.

GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

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

Pain experience of children with Christianson syndrome.

Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.

Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report.

Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs 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.

Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

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.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

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

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

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).

ATRX silences Cartpt expression in osteoblastic cells during skeletal development.

Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes.

Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Swallowing Assessment in a Pediatric Case of Allan-Herndon-Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing.

The histone demethylase KDM5 has insulator activity in the brain.

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.

Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.

Endocrine disorders in Rett syndrome: a systematic review of the literature.

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

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

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

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.

The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant.

Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.

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

A near normal distribution of IQ in Fragile X Syndrome.

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

Impaired hippocampal plasticity associated with loss of recycling endosomal SLC9A6/NHE6 is ameliorated by the TrkB agonist 7,8-dihydroxyflavone.

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

Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

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.

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.