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Ordered by how many DOIs each fix touches — start here, not with every error at once.

1

Add abstracts to 119 articles

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High impact119 DOIs
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Attach ORCID iDs across 71 articles

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High impact71 DOIs
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Low impact19 DOIs

DOIs for this ISSN

Showing the top 5 of 119 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 The diagnostic odyssey for children living with a rare disea… (10.1016/j.rare.2024.100022)
Abstract ORCID
73.12 28
2 Rare disease care in Europe – Gaping unmet needs (10.1016/j.rare.2024.100018)
Abstract ORCID
61.52 16
3 Measuring health-related quality of life in solid rare cance… (10.1016/j.rare.2023.100012)
Abstract ORCID
45.15 7
4 Snyder-Robinson syndrome presenting with learning disability… (10.1016/j.rare.2023.100017)
Abstract ORCID
45.15 7
5 Noma (Cancrum oris) in Africa: A newly added neglected tropi… (10.1016/j.rare.2024.100031)
Abstract ORCID
45.15 7
6 A unique collaborative model providing supportive and self-a… (10.1016/j.rare.2024.100026)
Abstract ORCID
42.25 6
7 Undeleting the voice of people with 22q11 deletion syndrome:… (10.1016/j.rare.2024.100033)
Abstract ORCID
38.91 5
8 Dual diagnosis of UQCRFS1-related mitochondrial complex III… (10.1016/j.rare.2024.100040)
Abstract ORCID
34.95 4
9 An expansion of the phenotype in individuals with SYNCRIP-Re… (10.1016/j.rare.2024.100052)
Abstract ORCID
34.95 4
10 Transthyretin amyloid cardiomyopathy in France: A cross-sect… (10.1016/j.rare.2024.100021)
Abstract ORCID
30.10 3
11 Bone manifestations in Snyder‐Robinson syndrome (10.1016/j.rare.2024.100025)
Abstract ORCID
30.10 3
12 Economics, externalities and rare disease (10.1016/j.rare.2024.100036)
Abstract ORCID
30.10 3
13 First year results and insights from the Mexican Rare Diseas… (10.1016/j.rare.2024.100046)
Abstract ORCID
30.10 3
14 Consensus recommendation for the treatment of generalised My… (10.1016/j.rare.2024.100051)
Abstract ORCID
30.10 3
15 Realising the potential impact of artificial intelligence fo… (10.1016/j.rare.2024.100057)
Abstract
25.00 9
16 New view of aceruloplasminemia: Systematic review and meta-a… (10.1016/j.rare.2023.100010)
Abstract
23.86 8
17 Unfurling a case of encephalitis with Acanthamoeba after a n… (10.1016/j.rare.2024.100035)
Abstract ORCID
23.86 2
18 A novel homozygous frameshift variant in SPTBN4 causes axona… (10.1016/j.rare.2024.100037)
Abstract ORCID
23.86 2
19 Addressing challenges in diagnosis and management of rare di… (10.1016/j.rare.2024.100044)
Abstract ORCID
23.86 2
20 Family and caregiver perspectives on gene therapy for Rett s… (10.1016/j.rare.2024.100045)
Abstract ORCID
23.86 2
21 A qualitative needs assessment of external communication by… (10.1016/j.rare.2025.100064)
Abstract ORCID
23.86 2
22 Multidisciplinary clinical and translational approach for op… (10.1016/j.rare.2023.100008)
Abstract
21.13 6
23 Initiating newborn screening for metabolic disorders in Paki… (10.1016/j.rare.2023.100011)
Abstract
21.13 6
24 Assessing knowledge, perceptions, awareness and attitudes on… (10.1016/j.rare.2023.100005)
Abstract
17.47 4
25 Comparative analysis of clinical outcomes and safety profile… (10.1016/j.rare.2025.100077)
Abstract
17.47 4
26 Position paper of the undiagnosed diseases network internati… (10.1016/j.rare.2023.02.002)
Abstract ORCID
15.05 1
27 Calciphylaxis in POEMS syndrome: Case report (10.1016/j.rare.2024.100019)
Abstract ORCID
15.05 1
28 Congenital three-bone forearm – A rare disorder (10.1016/j.rare.2024.100020)
Abstract ORCID
15.05 1
29 Retinal vasculopathy with cerebral leukoencephalopathy with… (10.1016/j.rare.2024.100032)
Abstract ORCID
15.05 1
30 Mitchell-Riley Syndrome: A rare genetic disorder, case repor… (10.1016/j.rare.2024.100042)
Abstract ORCID
15.05 1
31 The cross-sector model of care: A work design perspective (10.1016/j.rare.2024.100049)
Abstract ORCID
15.05 1
32 Geographical distribution of eight neuromuscular disorders i… (10.1016/j.rare.2025.100059)
Abstract ORCID
15.05 1
33 Changes in glycosphingolipid levels in plasma and cerebrospi… (10.1016/j.rare.2025.100065)
Abstract
15.05 3
34 Impact on the family of a child’s rare disease: A large cros… (10.1016/j.rare.2025.100066)
Abstract
15.05 3
35 Siblings with Rett Syndrome: A fatal male case and an asympt… (10.1016/j.rare.2025.100089)
Abstract ORCID
15.05 1
36 A precision public health approach to improving rare disease… (10.1016/j.rare.2025.100091)
Abstract ORCID
15.05 1
37 Screening, diagnostic, and monitoring approaches of Bardet-B… (10.1016/j.rare.2025.100092)
Abstract
15.05 3
38 Venture philanthropy in rare disease therapy (10.1016/j.rare.2025.100099)
Abstract ORCID
15.05 1
39 Psychological aspects, challenges to treatment and resources… (10.1016/j.rare.2025.100100)
Abstract
15.05 3
40 A first large study of whole-exome sequencing (WES) in 489 p… (10.1016/j.rare.2025.100102)
Abstract ORCID
15.05 1
41 The role of medical students in advocacy for rare diseases –… (10.1016/j.rare.2023.100004)
Abstract
11.93 2
42 The exercising patient with phenylketonuria: Considerations… (10.1016/j.rare.2025.100080)
Abstract
11.93 2
43 Clinical free text to HPO codes (10.1016/j.rare.2023.100007)
Abstract
7.53 1
44 Sexual and urinary dysfunctions among patients with neuromye… (10.1016/j.rare.2023.100009)
Abstract
7.53 1
45 Methodological considerations and implications for appetite… (10.1016/j.rare.2025.100060)
Abstract
7.53 1
46 Breaking patterns: Multiple spleens and the absent right kid… (10.1016/j.rare.2025.100068)
Abstract
7.53 1
47 Primary ciliary dyskinesia: A review (10.1016/j.rare.2025.100098)
Abstract
7.53 1
48 The Rare Hackathon: An extracurricular educational event to… (10.1016/j.rare.2025.100106)
Abstract
7.53 1
49 Regulatory sandboxes: A new frontier for rare disease therap… (10.1016/j.rare.2025.100110)
Abstract
7.53 1
50 Qualitative needs assessment of financial impact on caregive… (10.1016/j.rare.2026.100119)
Abstract
7.53 1