Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Correlation between cerebellar lesion topography and differential diagnosis with clinical presentation in dogs.

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation.

Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

"I love it…I love that story": The perspectives of children with Down syndrome and their mothers on reading experiences at home.

A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.

Refeeding Syndrome After Metabolic and Bariatric Surgery: A Systematic Review of the Literature.

Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view.

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Characterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Chronic ACTH Infusion Alters the Diurnal Rhythm of Sodium Excretion, Inducing Nondipping Blood Pressure and Salt-Sensitivity in Male Mice.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Combination of immune checkpoint inhibitors with multi-targeted tyrosine kinase inhibitors for second- or later-line therapy of non-small cell lung cancer: a systematic review and meta-analysis.

Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments.

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women.

Choroidal and retinal vascular changes in adults with Down syndrome: Insights into the Alzheimer's disease continuum.

Jugular Foramen Syndrome: Concurrent Neurological Deficits, Advanced Imaging Findings, Underlying Diagnoses, and Outcomes in 14 Dogs (2016-2024).

Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids.

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes.

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy.

Left renal vein transposition using autologous gonadal vein graft in patient with combined anterior nutcracker and May-Thurner syndromes.

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

Carbonyl reductase 1: a novel regulator of blood pressure in Down syndrome.

Protocol for prognosticating PPD using EEG changes during labor pain by uterine contractions: a prospective cohort study in the first stage of labor.

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Respiratory health outcomes of children with Down Syndrome following dysphagia management: a service evaluation.

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.

Roles of SNORD115 and SNORD116 ncRNA clusters during neuronal differentiation.

PROSER1 modulates DNA demethylation through dual mechanisms to prevent syndromic developmental malformations.

Calcium and magnesium abnormalities in puppies with parvoviral enteritis.

Safety and efficacy of the Yamane technique for intraocular three-piece lens implantation in Egyptian patients diagnosed with Marfan syndrome: a retrospective study.

Unveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.

Clinical Significance of Myocardial Injury in Patients Hospitalized for COVID-19: A Prospective, Multicenter, Cohort Study.

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

Delayed recruitment of activity-dependent bulk endocytosis in Fmr1 knockout neurons.

Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy.

William Aldren Turner (1864-1945).

The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies.

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

Neurological disorders provoked by head and neck movement.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Major surgical conditions of childhood and their lifelong implications: comprehensive review.

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy.

The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis.

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome.

Brain and cognitive changes in patients with long COVID compared with infection-recovered control subjects.

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.

A holistic approach to fragile X syndrome integrated guidance for person-centred care.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Evaluating fenfluramine hydrochloride as an oral solution for the treatment of seizures associated with Lennox-Gastaut syndrome.

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

DNMT3B PWWP mutations cause hypermethylation of heterochromatin.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Global birth prevalence of Robin sequence in live-born infants: a systematic review and meta-analysis.

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.

Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants.

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Turner Syndrome Mosaicism after Diagnosis of Coeliac Disease-A High Index of Clinical Suspicion Required?

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Fibrinogenolysis and fibrinolysis in vaccine-induced immune thrombocytopenia and thrombosis.

Cortical morphology in patients with the deficit and non-deficit syndrome of schizophrenia: a worldwide meta- and mega-analyses.

Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex.

Impaired vision in children prenatally exposed to methadone: an observational cohort study.

Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study.

Follicle development in Turner syndrome ovaries: consideration of the somatic cells.

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.

Primary cilia as dynamic and diverse signalling hubs in development and disease.

The activation of mGluR4 rescues parallel fiber synaptic transmission and LTP, motor learning and social behavior in a mouse model of Fragile X Syndrome.

Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons.

Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome.

Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.

Re-examining the nomenclature of congenital failure of formation in the upper limb: a historical perspective.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.

Intravenous immunoglobulin for the treatment of Kawasaki disease.

Public Health England and Co-Production with the Fetal Anomaly Screening Programme.

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

Experience-dependent changes in hippocampal spatial activity and hippocampal circuit function are disrupted in a rat model of Fragile X Syndrome.

Excessive proteostasis contributes to pathology in fragile X syndrome.

Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A.

Residual Lung Abnormalities after COVID-19 Hospitalization: Interim Analysis of the UKILD Post-COVID-19 Study.

Friendships in Children with Williams Syndrome: Parent and Child Perspectives.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Hypoxia-driven metabolic reprogramming of adipocytes fuels cancer cell proliferation.

New insights into CC2D2A-related Joubert syndrome.

Maternal and Neonatal Outcomes Associated with Mild COVID-19 Infection in an Obstetric Cohort in Brazil.

Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

The perinatal phenotype of Troyer syndrome: Case report and literature review.

Risk of COVID-19 hospitalizations among school-aged children in Scotland: A national incident cohort study.

The Oberg, Manske, and Tonkin Classification of Congenital Upper Limb Anomalies: A Consensus Decision-Making Study for Difficult or Unclassifiable Cases.

Insulin Resistance and Adrenal Androgen Synthesis Viewed Through a Monogenic Lens.

Klinefelter syndrome: going beyond the diagnosis.

A 5-year outcome of propranolol for the treatment of paediatric intracranial cavernoma: case report and a review of the literature.

Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.

Hepatic Mitochondrial Dysfunction and Risk of Liver Disease in an Ovine Model of "PCOS Males".

Protocol for a scoping review of sepsis epidemiology.

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome.

A multisystem, cardio-renal investigation of post-COVID-19 illness.

Mild motor impairment as prodromal state in amyotrophic lateral sclerosis: a new diagnostic entity.

Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

The same stress elicits different effects on anxiety-like behavior in rat models of Fmr1-/y and Pten+/.

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Takotsubo Syndrome: Pathophysiology, Emerging Concepts, and Clinical Implications.

How do people interpret implausible sentences?

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.

The 2019 and 2021 International Workshops on Alport Syndrome.

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

A clinical review of long-COVID with a focus on the respiratory system.

Arterial malformations leading to bilateral spontaneous renal hemorrhage in a dog.

EEG as a translational biomarker and outcome measure in fragile X syndrome.

Defining obstructive sleep apnoea syndrome: a failure of semantic rules.

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

Cross-species considerations in models of neurodevelopmental disorders.

FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis.

WASp controls oriented migration of endothelial cells to achieve functional vascular patterning.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response.

Pregnancies in women with Turner syndrome: a retrospective multicentre UK study.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine.

Stability of maternal serum free β-hCG following whole blood sample transit: First trimester Down's syndrome screening in Scotland.

Cognitive Dysfunction in Cats: Update on Neuropathological and Behavioural Changes Plus Clinical Management.

Environmental Impacts on Male Reproductive Development: Lessons from Experimental Models.

Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome.

Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome.

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders.

The Characterisation of the Craniofacial Morphology of Infants Born With Zika Virus; Innovative Approach for Public Health Surveillance and Broad Clinical Applications.

Mechanisms regulating input-output function and plasticity of neurons in the absence of FMRP.

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

A short-sighted approach to high myopia-not just an eye problem.

Opsoclonus-myoclonus in Aicardi-Goutières syndrome.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.

Segmental septal dyskinesia associated with an accessory pathway and preexcitation in two Golden Retriever dogs.

Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

Spontaneous coronary artery dissection: to do good or to do no harm?

Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning.

Validation of The Edinburgh cognitive and behavioural ALS screen (ECAS) in behavioural variant frontotemporal dementia and Alzheimer's disease.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Retinal Vessel Phenotype in Patients with a History of Retinal Vein Occlusion.

Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance.

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Antibiotic use for inpatient newborn care with suspected infection: EN-BIRTH multi-country validation study.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.

Neuropsychological Assessment Should Always be Considered in Myotonic Dystrophy Type 2.

Near-infrared spectroscopy (NIRS) measured tissue oxygenation in neonates with gastroschisis: a pilot study.

Neurokinin 3 Receptor Antagonism Ameliorates Key Metabolic Features in a Hyperandrogenic PCOS Mouse Model.

Are developmentally missing teeth a predictive risk marker of malignant diseases in non-syndromic individuals? A systematic review.

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.

Adaptations to Swimming Training in Athletes with Down's Syndrome.

Delayed recurrence of spontaneous intracranial hypotension syndrome mimicking a Chiari I malformation: Case report with a review of the literature.

JAK Inhibition in the Aicardi-Goutières Syndrome.

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.

Advanced imaging for quantification of abnormalities in the salivary glands of patients with primary Sjögren's syndrome.

Incidence of spinal deformity surgery in a national health service from 2005 to 2018: an analysis of 2,205 children and adolescents.

Aicardi-Goutières syndrome-like encephalitis in mutant mice with constitutively active MDA5.

Reconstitution of rat fetal testis during the masculinisation programming window induces focal dysgenesis consistent with testicular dysgenesis syndrome.

Systematic comparison of the male reproductive tract in fetal and adult Wistar rats exposed to DBP and DINP in utero during the masculinisation programming window.

Sexually dimorphic patterns in electroencephalography power spectrum and autism-related behaviors in a rat model of fragile X syndrome.

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.

Biallelic variants in GLE1 with survival beyond neonatal period.

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome.

Androgens and the masculinization programming window: human-rodent differences.

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.

Growth in individuals with Saul-Wilson syndrome.

A Differential Effect of Lovastatin versus Simvastatin in Neurodevelopmental Disorders.

An Indian child with Coats plus syndrome due to mutations in STN1.

A Cross-Sectional Comparison of the Prevalence of Obstructive Sleep Apnea Symptoms in Adults With Down Syndrome in Scotland and Japan.

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption.

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.