OOIR: Observatory of International Research

Papers

(The H4-Index of Orphanet Journal of Rare Diseases is 38. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	104
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	103
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	94
How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	93
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	83
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	82
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	76
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	76
A practical framework to approach the development and evaluation of patient registries for rare diseases	75
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	68
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	67
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	66
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	65
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	59
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	57
The burden of illness in Prader-Willi syndrome: a systematic literature review	56
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	55
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	55
Composite endpoints, including patient reported outcomes, in rare diseases	51
Burden of disease in adult patients with hereditary angioedema: results from a multinational survey	50
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	50
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	49
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	48
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	47
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients	47

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	46
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	46
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	46
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	44
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	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	43
Novel compound heterozygous FAM20C variants cause Raine syndrome – retrospective prenatal diagnosis and literature review	43
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	41
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	41
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	40
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	38
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	38
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	38