OOIR: Observatory of International Research

Papers

(The H4-Index of Orphanet Journal of Rare Diseases is 37. 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 2021-11-01 to 2025-11-01.)

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	128
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene	80
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance	78
The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia	73
Composite endpoints, including patient reported outcomes, in rare diseases	68
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study	63
Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome	62
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy	62
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca	59
In vivo applications and toxicities of AAV-based gene therapies in rare diseases	57
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients	56
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges	55
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression	54
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry	53
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping	52
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome	51
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study	50
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study	50
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	46
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis	44
Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI	44
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells	44
Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials	43
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022	43
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis	43

Primary immune regulatory disorders: Undiagnosed needles in the haystack?	42
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments	42
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative	41
The burden of illness in Prader-Willi syndrome: a systematic literature review	40
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations	39
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature	39
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility	39
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant	39
Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria	39
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease	39
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand	38
Challenges and improvement needs in the care of patients with central diabetes insipidus	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	37