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

Article	Citations
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene	140
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	88
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	87
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	84
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	72
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	68
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	68
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	64
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	63
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	62
Composite endpoints, including patient reported outcomes, in rare diseases	62
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	61
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	61
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	58
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	57
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	55
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	52
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	50
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	49
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	49
The burden of illness in Prader-Willi syndrome: a systematic literature review	48
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	48
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	47
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	45
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	45

How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases	44
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	44
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	44
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	43
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	43
Challenges and improvement needs in the care of patients with central diabetes insipidus	42
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients	42
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	42
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	41
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure	40
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	39
Primary immune regulatory disorders: Undiagnosed needles in the haystack?	39
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	38
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry	38