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 2021-09-01 to 2025-09-01.)

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	119
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	106
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	74
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	72
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	68
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	65
Composite endpoints, including patient reported outcomes, in rare diseases	64
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	61
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	58
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	55
RaDiCo, the French national research program on rare disease cohorts	55
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	54
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	52
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	50
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	48
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	47
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	47
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia	47
Challenges and improvement needs in the care of patients with central diabetes insipidus	45
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	45
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	44
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	44
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	43
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	43
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	42

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	42
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	42
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	41
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	39
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	38
The burden of illness in Prader-Willi syndrome: a systematic literature review	38
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	37
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	36
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	36
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	36
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	36