OOIR: Observatory of International Research

Papers

(The H4-Index of Orphanet Journal of Rare Diseases is 33. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-03-01 to 2024-03-01.)

Article	Citations
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis	191
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update	102
PKU dietary handbook to accompany PKU guidelines	98
The use of machine learning in rare diseases: a scoping review	90
A roadmap to using historical controls in clinical trials – by Drug Information Association Adaptive Design Scientific Working Group (DIA-ADSWG)	82
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years	79
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies	68
Guidelines for diagnosis and management of congenital central hypoventilation syndrome	66
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations	62
ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease	61
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study	59
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence	58
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis	57
Natural history of lung function in spinal muscular atrophy	54
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments	53
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry	51
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app	51
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision	48
Diagnosis support systems for rare diseases: a scoping review	47
Consensus clinical management guidelines for Alström syndrome	46
Longitudinal natural history of type I spinal muscular atrophy: a critical review	44
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review	44
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys	42
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome	41
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)	39

The national economic burden of rare disease in the United States in 2019	39
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?	39
Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-on	38
French recommendations for the management of systemic sclerosis	37
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled	36
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa	35
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib	33
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis	33