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 2020-11-01 to 2024-11-01.)

Article	Citations
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years	97
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations	81
The national economic burden of rare disease in the United States in 2019	74
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis	73
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments	60
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision	55
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa	54
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app	54
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?	51
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review	49
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome	49
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)	49
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	47
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study	46
French recommendations for the management of systemic sclerosis	46
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems	44
The diagnostic odyssey: insights from parents of children living with an undiagnosed condition	44
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases	44
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys	43
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled	43
Calcium channelopathies and intellectual disability: a systematic review	42
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	39
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities	38
Global epidemiology of amyloid light-chain amyloidosis	38
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update	38

French recommendations for the management of Behçet’s disease	36
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey	36
Legg–Calvé–Perthes disease overview	36
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)	35
Perfect match: mTOR inhibitors and tuberous sclerosis complex	35
Phelan-McDermid syndrome: a classification system after 30 years of experience	34
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations	34
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry	33
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study	33