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
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	62
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	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
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	54
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	54
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	50
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	50
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	49
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	49
A practical framework to approach the development and evaluation of patient registries for rare diseases	48
Novel compound heterozygous FAM20C variants cause Raine syndrome – retrospective prenatal diagnosis and literature review	46
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
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

First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	40
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
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	39
The burden of illness in Prader-Willi syndrome: a systematic literature review	39
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	38
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	37
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	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