OOIR: Observatory of International Research

Papers

(The H4-Index of Orphanet Journal of Rare Diseases is 36. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	103
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	93
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	93
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	64
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	63
Composite endpoints, including patient reported outcomes, in rare diseases	62
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	62
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	61
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	59
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	58
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	56
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	53
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	53
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	52
The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis	52
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	52
Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment	50
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	47
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	45
RaDiCo, the French national research program on rare disease cohorts	45
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	44
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group	44
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization	44
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	43
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia	42

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	42
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	40
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	39
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	39
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	38
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	38
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	37
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	37
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	36
Challenges and improvement needs in the care of patients with central diabetes insipidus	36
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	36
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	36