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]