OOIR: Observatory of International Research

Papers

(The H4-Index of Orphanet Journal of Rare Diseases is 35. 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 2021-06-01 to 2025-06-01.)

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	111
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	100
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	97
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
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	62
Composite endpoints, including patient reported outcomes, in rare diseases	62
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	60
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	59
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	59
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	56
The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis	55
Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment	53
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	53
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	52
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities	46
RaDiCo, the French national research program on rare disease cohorts	46
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	45
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	45
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	44
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	43
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	42
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	42
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	41
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	40

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia	39
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	39
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers	39
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	38
Challenges and improvement needs in the care of patients with central diabetes insipidus	37
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	37
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	37
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	37
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	36
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	36
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	35
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	35