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Rare is a peer-reviewed journal published by Elsevier, covering Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research.
| Publisher | Elsevier |
|---|---|
| Reference style | Numbered (Elsevier) Numbered — [1], [2] in the text [1] A. Smith, B. Jones, C. Lee, A representative article title, Rare 12 (2023) 45–58.
Formats any DOI in Rare style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research Genomic variations and chromosomal abnormalities BRCA gene mutations in cancer |
| ISSN | 2950-0087 |
| Citation impact (2-yr) | 1.41 |
| h-index | 7 |
| i10-index | 2 |
| Total citations | 193 |
| Open access | Yes |
| Top institutions publishing here | Aga Khan University |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
In Europe, which provides its citizens with the highest level of social protection in the world, the needs of rare disease patients remain fundamentally unmet. The overwhelming majority of rare diseases still have no treatment or cure; infant mortality is unspeakably high; and when a safe and effective rare disease treatment is developed, patient access…
Rare cancer patients often face delayed diagnosis and lack of expert care which are a challenge to clinical practice. Patients diagnosed with a rare tumour report poorer psychosocial outcomes and impaired health-related quality of life (HRQoL). The impairment might be explained by the challenges patients with rare cancer face during their disease trajectory. Specific HRQoL…
Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management.…
Noma is an overwhelming orofacial necrotizing disease and most cases occur in malnourished people, especially children. It is most common in tropical and subtropical regions of sub-Saharan Africa. Its high death rate, serious physical and psychological morbidity, stigmatization, and social discrimination are all contributing factors. Common public health interventions could prevent, control, and even eradicate…
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (SMS) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and…
