Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.

First demyelinating attack in children: A twelve year single center cohort.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Quantitative assessment of light discomfort thresholds in a patient with photoallodynia treated with topical naltrexone 0.01.

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

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

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Mechanisms, Syndromes, and Management.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Visual Impairment and Ocular Findings in Children With Developmental Delay Attending a Child Development Unit Clinic at a Tertiary Hospital.

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

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

[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].

Sudden Bilateral Vision Loss in A Young Patient with Systemic Autoimmune Disease and A Normal Brain MRI, which Responded to Steroid Treatment.

Unraveling the relationship between childhood dry eye symptoms and sleep patterns.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Burden of ophthalmologic disorders in obstructive sleep apnea.

The burden of bacterial antimicrobial resistance in the WHO Eastern Mediterranean Region 1990-2021: a cross-country systematic analysis with forecasts to 2050.

Understanding cognitive features of cervical dystonia: application of the cerebellar cognitive affective syndrome scale (CCAS-S).

Outcomes of Maintenance Immunotherapy in a Cohort of Patients With Susac Syndrome: A 2-Center Large Case Series.

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

Ganaxolone in Epilepsy: Insights into a Neurosteroid-Based Therapy.

Case 341: Infratentorial Posterior Reversible Encephalopathy Syndrome Associated with Interferon-β in Relapsing Multiple Sclerosis.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Autonomic dysfunction symptoms in Sjögren's Disease: A missed dimension linked to disease burden and work disability.

Development of a Patient-Centered Outcome Tool for Blepharospasm: A Stepwise Modified Delphi Study.

Case Report: A case of traumatic subgaleal hematoma with delayed massive exophthalmos.

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

Chronic Early-Life Obesity Linked to Childhood Impulsivity Predicts Long-Term Psychosis Trajectory Through Dose-Dependent Cerebellar Dysmaturation in 22q11.2 Deletion Syndrome.

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

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

New and emerging pharmacotherapeutic options for the treatment of lennox-gastaut syndrome: moving forward in 2025.

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Chronic Ocular Sequelae of Stevens-Johnson Syndrome: Recent Advances in Understanding of Patho-Physiology and Management.

Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.

Prevalence and Potential Risk Factors of Ocular Disorders Among Institutionalised Adults With Intellectual Disabilities-A City-Wide Survey in Taipei City.

Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series.

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome.

Systematic phenotype and genotype characterization of Moebius syndrome.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Blepharospasm management in Schwartz-Jampel syndrome: A systematic review.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Foveal hypoplasia in Myhre syndrome: a novel association.

Treating Glaucoma in Intellectually Disabled Patients: Novel Criteria for Choosing Surgical Candidates.

The feasibility of using eye-tracking technology for cognitive screening in Down syndrome with dementia: A cross-sectional case series.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.

Variable expressivity of a transmitted pathogenic KAT6B variant.

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

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings.

Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions.

DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.

Understanding speech and language in KIF1A-associated neurological disorder.

French protocol for diagnosis and management of type 1 interferonopathies.

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

Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.

Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.

DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Clinical profile and treatment outcomes in acute retinal necrosis in a South Indian patient population.

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience.

Charles Bonnet syndrome among visually impaired military veterans: findings from a UK screening and survey study.

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.

Recognising the neurological burden of onchocerciasis: the need to include onchocerciasis-associated epilepsy in onchocerciasis global health metrics.

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.

Case report: ocular manifestations of NFIX-associated Malan syndrome.

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

Methylphenidate for the cognitive and neurobehavioural sequelae of traumatic brain injury in adults: a systematic review and meta-analysis.

The Intriguing Blindness of Maria Theresia von Paradis and the Instructive Potential of Medical Biography.

[Clinical features of CHARGE syndrome in children].

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

Diagnosing and Managing Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Adults: Review of Evidence 2017-2023.

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

C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.

Spatial and temporal trends in HIV/AIDS burden among South Asian countries from 1990 to 2021: A systematic examination of the Global Burden of Disease study 2021.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.

Strabismus in Genetic Syndromes: A Review.

Kidins220-deficient hydrocephalus mice exhibit altered glial phenotypes and AQP4 differential regulation in the retina and optic nerve, with preserved retinal ganglion cell survival.

Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome.

Co-existence of strabismus and Down syndrome in relation to visual impairment in institutionalised adults with intellectual disabilities: Implications for vision care.

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

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Comparative Pacing Profile and Chronometric Performance in Elite Swimmers with Intellectual Impairments and Able-Bodied Athletes.

Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.

The Spectrum of Ocular Diseases in the Onchocerciasis-Endemic Focus of Raga in South Sudan.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Clinical Characterization and Prognostic Risk Factors of Susac Syndrome: A Retrospective Multicenter Study.

Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Global trends and regional differences in the burden of HIV/AIDS attributed to intimate partner violence among females in 204 countries and territories, 1999-2019: An analysis of the global burden of disease study.

Assessment of Affordances in the Home Environment and Neurodevelopment of Children With Congenital Zika Syndrome.

Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

The Relationship Between Hand Abnormalities and Diabetic Retinopathy in Patients with Type 2 Diabetes Mellitus.

The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.

HLA-B*51:01 in Iranian patients with Behcet uveitis syndrome.

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

PHARC syndrome: an overview.

A coloaded liposome in situ gel as a novel therapeutic strategy to treat cerebral ischemia reperfusion injury.

A Clinical Study on Severity of Dry Eye in Individuals with Pterygium at a Tertiary Hospital in South Kerala.

Understanding Data and Opportunities Focused on Value: A Single-Center Experience in Headache Care.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

High-Velocity Low-Amplitude Techniques for the Management of Discogenic Lumbosacral Radicular Syndrome: A Systematic Review.

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Care of children with congenital rubella syndrome (CRS) in Indonesia.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

A novel large multi-gene deletion in syndromic choroideremia.

Cochlear implantation in syndromic patients: difficulties and lessons learnt.

PRETERM FAMILIAL EXUDATIVE VITREORETINOPATHY: A NOVEL NONSENSE LRP5 MUTATION.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

HSCT for stiff person syndrome and myasthenia gravis.

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.

Associations Between Obstructive Sleep Apnea Syndrome, Dry Eye Disease, and CPAP Usage Among Taiwanese Patients: A Retrospective Analysis.

Long COVID Brain Fog Treatment: Findings from a Pilot Randomized Controlled Trial of Constraint-Induced Cognitive Therapy.

Lateral Rectus Disabling and Simultaneous Modified Nishida Procedure for Exotropic Duane Retraction Syndrome.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

Exploring the pathological mechanisms underlying Cohen syndrome.

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Natural history of adults with KBG syndrome: A physician-reported experience.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

The Pressure of Headache at the United Kingdom CSF Disorders Day 2023.

Improving explanation of motor disability with diffusion-based graph metrics at onset of the first demyelinating event.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

Predicting the conversion from clinically isolated syndrome to multiple sclerosis: An explainable machine learning approach.

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Ocular Ischemic Syndrome and the Role of Carotid Artery Revascularization.

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis.

Immune Checkpoint Inhibitor-Associated Kelch-Like Protein-11 IgG Brainstem Encephalitis.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The paradigm change from reactive medical services to 3PM in ischemic stroke: a holistic approach utilising tear fluid multi-omics, mitochondria as a vital biosensor and AI-based multi-professional data interpretation.

De novo variants in DENND5B cause a neurodevelopmental disorder.

Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Beneficial Impact of Eicosapentaenoic Acid on the Adverse Effects Induced by Palmitate and Hyperglycemia on Healthy Rat Chondrocyte.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Optical coherence tomography with voxel-based morphometry: a new tool to unveil focal retinal neurodegeneration in multiple sclerosis.

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.

Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.

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

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Abnormal Neurologic Findings in Patients With Sickle Cell Disease Without a History of Major Neurologic Events.

Calciphylaxis, beware the ophthalmic mimic: A case series.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Ocular manifestations in Koolen-de Vries syndrome: an international study.

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.

Global Burden of Cardiovascular Diseases and Risks, 1990-2022.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Adverse effects of immunotherapies for multiple sclerosis: a network meta-analysis.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years.

Iatrogenic affectation of ocular motility by immune checkpoint inhibitors.