• A holistic approach to fragile X syndrome integrated guidance for person-centred care
• A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion
• Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study
• Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome
• An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
• Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons
• Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
• Brain and cognitive changes in patients with long COVID compared with infection-recovered control subjects
• Case report: Identification of a novel variant p.Gly215Arg in the <em>CHN1</em> gene causing Moebius syndrome
• Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
• Characterization of a mutant <em>samhd1</em> zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome
• Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex
• Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants
• Cortical morphology in patients with the deficit and non-deficit syndrome of schizophrenia: a worldwide meta- and mega-analyses
• Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21
• Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy
• DNMT3B PWWP mutations cause hypermethylation of heterochromatin
• Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
• Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study
• Evaluating fenfluramine hydrochloride as an oral solution for the treatment of seizures associated with Lennox-Gastaut syndrome
• Expanding the reproductive organ phenotype of CHD7-spectrum disorder
• Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alstrom syndrome cardiomyopathy
• Fibrinogenolysis and fibrinolysis in vaccine-induced immune thrombocytopenia and thrombosis
• Fibrinogenolysis and fibrinolysis in Vaccine-induced Immune Thrombocytopenia and Thrombosis (VITT)
• Follicle development in Turner syndrome ovaries: consideration of the somatic cells
• Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
• Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
• Global birth prevalence of Robin sequence in live-born infants: a systematic review and meta-analysis
• GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification
• Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
• Impaired vision in children prenatally exposed to methadone: an observational cohort study
• Intravenous immunoglobulin for the treatment of Kawasaki disease
• JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
• Major surgical conditions of childhood and their lifelong implications: comprehensive review
• Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alstrom syndrome
• Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism
• Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome
• Neurological disorders provoked by head and neck movement
• NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
• Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
• Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
• Primary cilia as dynamic and diverse signalling hubs in development and disease
• PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma
• Public Health England and Co-Production with the Fetal Anomaly Screening Programme
• PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
• SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum
• The activation of mGluR4 rescues parallel fiber synaptic transmission and LTP, motor learning and social behavior in a mouse model of Fragile X Syndrome
• The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies
• The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes
• The implementation and impact of non-invasive prenatal testing (NIPT) for Down's syndrome into antenatal screening programmes: A systematic review and meta-analysis
• Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
• William Aldren Turner (1864-1945)