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 2022-08-01 to 2026-08-01.)

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	123
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	111
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	96
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	85
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	84
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	75
Burden of disease in adult patients with hereditary angioedema: results from a multinational survey	74
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	73
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	62
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	62
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	61
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	59
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	58
Emotion–tremor coupling in Wilson’s disease: EEG microstate C as a marker of salience network dysregulation	56
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	54
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	54
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	50
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	50
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	49
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	49
A practical framework to approach the development and evaluation of patient registries for rare diseases	48
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry	46
Novel compound heterozygous FAM20C variants cause Raine syndrome – retrospective prenatal diagnosis and literature review	46
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	42
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	41

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	40
Fatigue and pain in children with multiple osteochondromas: a cross-sectional study	40
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	40
The burden of illness in Prader-Willi syndrome: a systematic literature review	39
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	39
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	38
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	37
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	37
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	36
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients	35