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| 38088397 | The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants. | Ann Ist Super Sanita | 2023 |
| 37902973 | Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project. | Endocr Connect | 2023 |
| 37822540 | Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. | Front Public Health | 2023 |
| 37184351 | The Communicative-Relational Operating Model of the Italian National Institute of Health for an Effective Telephone Intervention in Public Health, Structured on Basic Counselling Skills. | Ann Ig | 2023 |
| 36974698 | Newborn screening in Italy: a unique program of public health in Europe. Editorial. | Ann Ist Super Sanita | 2023 |
| 37337987 | Gender and burden differences in family caregivers of patients affected by ten rare diseases. | Ann Ist Super Sanita | 2023 |
| 37336332 | Nutrition, food safety and human reproductive and developmental health. | Reprod Toxicol | 2023 |
| 37161573 | Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. | Orphanet J Rare Dis | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 36460469 | Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. | Neurology | 2023 |
| 34583889 | Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation? | J Cyst Fibros | 2022 |
| 38051988 | COVID-19 and the rare disease organization response during pandemic: the 'Italian model'. | Future Rare Dis | 2022 |
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| 35702584 | Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey. | Intractable Rare Dis Res | 2022 |
| 35722798 | Adapting the World Health Organization rapid Assistive Technology Assessment (rATA) to the Italian context: implementation of a TRAPD-based approach. | Ann Ist Super Sanita | 2022 |
| 35722792 | The long journey of people with rare diseases: from darkness to the UN Resolution 2021. Editorial. | Ann Ist Super Sanita | 2022 |
| 36925875 | An Opportunity to Harmonise the Approach to Patients' Care Pathways for Rare and Complex Diseases: RarERN Pathâ¿¢. | Front Health Serv | 2022 |
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| 36226147 | An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET. | Front Med (Lausanne) | 2022 |
| 35206849 | Technologies to Support Frailty, Disability, and Rare Diseases: Towards a Monitoring Experience during the COVID-19 Pandemic Emergency. | Healthcare (Basel) | 2022 |
| 33219628 | Cystic fibrosis with non-G551D gating mutations in Italy: Epidemiology and clinical characteristics. | Pediatr Pulmonol | 2021 |
| 33530652 | Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal. | Int J Environ Res Public Health | 2021 |
| 33528763 | CPMS-improving patient care in Europe via virtual case discussions. | Endocrine | 2021 |
| 33525390 | Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis? | Medicina (Kaunas) | 2021 |
| 33884834 | COVID-19 and pregnancy, childbirth, and breastfeeding: the interim guidance of the Italian National Institute of Health. | Epidemiol Prev | 2021 |
| 33549520 | First and second wave of SARS-CoV2 in Italian Cystic Fibrosis patients: Data from Italian Cystic Fibrosis Registry. | J Cyst Fibros | 2021 |
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| 34013593 | Neurocutaneous syndromes in art and antiquities. | Am J Med Genet C Semin Med Genet | 2021 |
| 33950416 | Shaping national plans and strategies for rare diseases in Europe: past, present, and future. | J Community Genet | 2021 |
| 34357699 | Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry. | Pediatr Pulmonol | 2021 |
| 33408338 | The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET. | Nat Rev Rheumatol | 2021 |
| 32375358 | The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality? | Int J Environ Res Public Health | 2020 |
| 31873296 | A call for global action for rare diseases in Africa. | Nat Genet | 2020 |
| 33255540 | The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes. | Int J Environ Res Public Health | 2020 |
| 33426479 | The case for open science: rare diseases. | JAMIA Open | 2020 |
| 33242303 | One year in review 2020: economic and organisational aspects in rare and complex connective tissue diseases. | Clin Exp Rheumatol | 2020 |
| 33238523 | Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider. | Int J Environ Res Public Health | 2020 |
| 32918520 | Clinical characteristics of individuals with Down syndrome deceased with CoVID-19 in Italy-A case series. | Am J Med Genet A | 2020 |
| 32824402 | Social Economic Costs, Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome. | Int J Environ Res Public Health | 2020 |
| 32959051 | Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis. | Hum Mol Genet | 2020 |
| 32928283 | Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. | Ital J Pediatr | 2020 |
| 32365682 | Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy. | Int J Environ Res Public Health | 2020 |
| 32242535 | Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort. | Ann Ist Super Sanita | 2020 |
| 29294017 | The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data. | J Public Health (Oxf) | 2019 |