• <em>EPG5</em>-Related Disorder
• 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
• A nationwide survey of Vici syndrome in Japan
• A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
• Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
• Cardiac RNase Z edited via CRISPR-Cas9 drives heart hypertrophy in Drosophila
• Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature
• Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <em>EPG5</em> Gene
• Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
• Disorders of Intracellular Cobalamin Metabolism
• Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
• Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature
• Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and <em>SMARCA2</em> gene deletion
• Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency
• Nuclear lamins: Structure and function in mechanobiology
• Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases
• Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
• Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report
• Pyoderma gangrenosum in a patient with Dubowitz syndrome: a new comorbidity?
• Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
• Using deep long-read RNAseq in Alzheimer's disease brain to assess clinical relevance of RNA isoform diversity
• Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity