Table 3 International publications so far associated to the RaDiCo program

Discovery of new disease genes

TTC12 loss-of function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly in motile cilia vs. flagella [11]

Lack of GAS2L2 causes primary ciliary dyskinesia by impairing cilia orientation and mucociliary clearance [12]

Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus [13]

Mutations in DNAJB13, encoding an HSP40 family member, cause primary ciliary dyskinesia and male infertility [14]

de novo missense variants in FBXW11, a gene that encodes an F-box protein involved in ubiquitination and proteosomal degradation [15]

Assessment of treatment management

Vascular Ehlers-Danlos syndrome – Long-term observational study [16]

Pathophysiology and diagnostic approaches

Accuracy of clinical diagnostic criteria for patients with vascular Ehlers-Danlos syndrome in a tertiary referral centre [17]

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer [18]

Pulmonary fibrosis in children [19]

Chronic interstitial lung diseases in children: diagnosis approaches [20]

Pulmonary hemosiderosis in children with Down syndrome: a national experience [21]

Paediatric sarcoidosis [22]

Genetic causes and clinical management of pediatric interstitial lung diseases [23]

Genotype–phenotype relationships

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association [24]

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele [25]

Alport syndrome: a unified classification of genetic disorders of collagen IV α345 [26]

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia [27]

Development and validation of burden questionnaires and Quality of life

Burden of albinism: development and validation of a burden assessment tool [28]

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool [29]

Health-related quality of life in infants and children with interstitial lung disease [30]

Methodological aspects

Federating patients identities: the case of rare diseases [10]

Cerberus, an access control scheme for enforcing least privilege in patient cohort study platforms: [31]

National registries of rare diseases in Europe: an overview of current situation and experiences [32]

Recommendations for improving the quality of rare disease registries [33]

Data quality in rare diseases registries [34]