The selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.

Second allogeneic stem cell transplantation for XMEN disease.

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.

Electroencephalography signals in a female Fragile X Syndrome mouse model.

Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.

Danon Disease Diagnosed by Multimodal Imaging.

Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease.

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

VEXAS Syndrome with an Improvement of Chest Shadows Without Immunosuppressive Therapy: A Case Report.

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

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

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.

Retarded DNA DSB repair kinetics and augmented radiation sensitivity in Wiskott Aldrich syndrome patients.

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Implications of Glomus Tumor Pathology and Pain Mechanism for Surgical Treatment.

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

Preclinical efficacy and safety assessment of engineered regulatory T cells for treatment of IPEX and other autoimmune disorders.

Cerebellar hypoplasia caused by CASK deficiency.

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.

Large-Vessel Vasculitis With Autoimmune Myelodysplastic Syndrome: An Uncommon Case of Large-Vessel Vasculitis With Cytopenia That Is Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome (VEXAS) Negative.

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

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report.

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

Nonextraction solution for self-injurious behavior in children with Lesch-Nyhan syndrome: a retrospective case series with up to 14 years of follow-up.

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

A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review.

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

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

SPIN4-related X-linked overgrowth in a family.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Alport syndrome complicated with IgA nephropathy: a case report.

Genetic Basis and Heterogeneity of Congenital Hypogonadotropic Hypogonadism.

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.

The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease.

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

PAXIS: A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Phase 2 Study (Part 1) Followed by an Open-Label Period (Part 2) to Assess the Efficacy and Safety of Pacritinib in Patients with VEXAS Syndrome.

Foundations of an Ovine Model of Fragile X Syndrome.

Otopalatodigital Syndrome Type 2: A Case Report.

Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.

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.

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.

Navigating through uncertainty-Experience from the UK national VEXAS MDT.

Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.

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

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

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

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Proteomic dataset of MECP2-deficient and wild-type human brain organoids under spaceflight and ground conditions.

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

Keipert syndrome beyond classical features: novel GPC4 variant associated with epilepsy but preserved cognition.

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

Expanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement.

Good's Syndrome Mirrors a Combined Immunodeficiency with Anti-Cytokine Antibodies in the Total Absence of B Cells.

The Nodding syndrome cerebrospinal fluid proteome: a lens into neurodevelopmental failure consistent with environmentally triggered MECP2 dysregulation?

Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature.

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

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.

Abnormal iron homeostasis mediates cochlear hair cell impairment and hearing loss in Gprasp2-deficient mice.

Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report.

WAS Protein Deficiency Disrupts Memory B Cell Formation During Acute LCMV Infection.

[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome].

Transcranial Photobiomodulation in Rett Syndrome: A Mechanistic Review and Therapeutic Hypothesis.

The Importance of a Multidisciplinary Team Approach in a Rare Case of Antenatally Diagnosed Tonne-Kalscheuer Syndrome.

Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.

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

Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis.

mRNA Therapy for Alport Syndrome.

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

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Disease-modifying therapies for Rett syndrome: a review for neurologists.

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Rheumatology 2050: How our specialty is changing.

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

A fatal case of VEXAS syndrome with a brief review.

Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

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

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.

COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.

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.

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis.

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

Rare Dual Genetic Diagnosis of Wiskott-Aldrich Syndrome and Ghoshal Hematodiaphyseal Dysplasia: Clinical, Diagnostic, and Management Challenges.

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.

Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome.

Rapid flow cytometric diagnosis of XIAP deficiency.

Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank.

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

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

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

Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.

Orbital inflammation in VEXAS syndrome.

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review.

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.

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.

When the kidneys speak for the brain: a nephrological presentation of a rare neurological disorder.

A Case of VEXAS Syndrome.

Morphologic Deciphering of Hematopoietic Cell Vacuolization: Lessons From VEXAS Syndrome and Other Etiologies.

VEXAS Syndrome with Vibrio vulnificus Sepsis During Treatment with Tocilizumab: A Case Report.

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.

A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report.

Sensitive and unbiased genome-wide profiling of base-editor-induced off-target activity using CHANGE-seq-BE.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management.

A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene.

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

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

Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

Intravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.

Immunoglobulin disorders in pediatric chronic rhinosinusitis.

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

Recurrent Talaromyces Marneffei Infection Revealing X-Linked Hyper IgM Syndrome in an HIV-Negative Infant: A Diagnostic and Therapeutic Challenge.

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.

Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.

Dominant Action of CLCN4 Neurodevelopmental Disease Variants in Heteromeric Endosomal ClC-3/ClC-4 Transporters.

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2.

Polyarteritis nodosa associated with VEXAS syndrome and chronic myelomonocytic leukemia: a case-control study.

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

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome.

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review.

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy.

Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients.

Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement.

Gene Editing in Cardiac Disease: A Review of the Literature.

MeCP2 regulates telencephalic development in human cerebral organoids.

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.

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Misdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.

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

Mitochondrial structure and function in OCRL depleted cells.

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with SLC9A6 hemizygote mutation.

PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect.

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

Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

Elamipretide: First Approval.

Mecp2 deficiency induces dysphagia in a preclinical model of Rett 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.

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

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

Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.

Albinism: from genetics to cell biology and physiopathology.

Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome.

Whole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.

VEXAS syndrome with eosinophilia and pathologically mimicking histiocytosis: a case report.

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy.

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.

A cytoplasmic clue in a man with febrile illness: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.

Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing.

Clinical variation in Lowe syndrome: what and how?

Real-world disease burden and health care resource utilization for patients with Barth syndrome.

Epidemiology and Healthcare Resource Utilization of Rett Syndrome in Canada: The Ontario Experience.

Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus.

Elamipretide: The first cardiolipin-directed mitochondrial therapeutic for Barth syndrome approved under accelerated approval.

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

Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health.

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man.

Monogenic defects in Russian children with autism spectrum disorders.

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

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

[Endothelial dystrophies and degenerations of the cornea].

Unravelling the Puzzle: Highlighting a Case of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Mimicker Presented With Inflammatory Symptoms and Pancytopenia.

From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.

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.