4.2(top 3%)
Impact Factor
4.7(top 3%)
extended IF
118(top 3%)
H-Index
3.8K
authors
3.1K
papers
89.3K
citations
5.7K
citing journals
51.3K
citing authors

Most Cited Articles of Orphanet Journal of Rare Diseases

TitleYearCitations
Niemann-Pick disease type C2010703
Beta-thalassemia2010643
Fabry disease2010643
Amyotrophic lateral sclerosis2009630
Retinitis pigmentosa2006516
Huntington's disease: a clinical review2010489
Sweet's syndrome--a comprehensive review of an acute febrile neutrophilic dermatosis2007473
Atypical hemolytic uremic syndrome2011422
Guideline of transthyretin-related hereditary amyloidosis for clinicians2013403
Suggested guidelines for the diagnosis and management of urea cycle disorders2012388
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia2014352
Congenital hypothyroidism2010341
Alpha-thalassaemia2010339
Toxic epidermal necrolysis and Stevens-Johnson syndrome2010325
Familial adenomatous polyposis2009321
Oculocutaneous albinism2007306
Neurofibromatosis type 2 (NF2): a clinical and molecular review2009294
Osteosarcoma (osteogenic sarcoma)2007294
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)2008291
Malignant hyperthermia2007285
Osteopetrosis2009283
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management2012280
Oesophageal atresia2007280
Cone rod dystrophies2007279
Ataxia telangiectasia: a review2016263