Scientific Publications
| Title | Publication (year) | Link |
| Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study | Orphanet Rare Diseases Journal (2025) | Click here |
| Discovery of novel genetic syndromes in Latin America: Opportunities and challenges | Genetics and Molecular Biology (2024) | Click here |
| Genomic analysis in Chilean patients with suspected Rett syndrome: Keep a broad differential diagnosis | Frontiers in Genetics (2024) | Click here |
| Challenges for gene therapy in the financial sustainability of health systems: a scoping review | Orphanet Journal of Rare Diseases Journal (2024) | Click here |
| Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile | European Journal of Human Genetics (2024) | Click here |
| PUF60 -related developmental disorder: A Case Series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants | American Journal of Medical Genetics Part A (2023) | Click here |
| Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome | Genes (2022) | Click here |
| Rare diseases and therapeutic trajectories of patients: what do we know today? | Revista Chilena De Salud Pública (2022) | Click here |
| Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability | Human Mutation (2021) | Click here |
| Rare diseases in Chile: challenges and recommendations in universal health coverage context | Orphanet Rare Diseases Journal (2019) | Click here |
| "Rare but not invisible": Why rare diseases matter, and what can we do about them? | Revista Chilena de Enfermedades Respiratorias (2017) | Click here |
Conferences
| Title | Publication (year) | Link |
| End-of-life decisions in patients with rare and infrequent diseases | 28/08/2024 | Click here |
| Rare or Uncommon Diseases in Adults | 05/06/2024 | Click here |
| Academic Seminar | Advancing in the genomics of rare and infrequent diseases | 21/03/2024 | Click here |
| Academic Seminar | Advancing in the genomics of rare and infrequent diseases | 20/03/2024 | Click here |
| Fondecyt Results 1211411: Therapeutic trajectories in rare, uncommon or orphan diseases | 23/01/2024 | Click here |
| Health decision making: Crossroads faced by patients and caregivers | 15/11/2023 | Click here |
| They asked me for a genetic test: What does this mean? | 25/10/2023 | Click here |
| From scientific research to people's lives | 27/09/2023 | Click here |
| Connecting the experiences of women who care: strategies and tools | 23/08/2023 | Click here |
| Legislation on Rare and Uncommon Diseases: what do we need, what is useful? | 13/07/2023 | Click here |
| Patient trajectory: psychological and social implications | 14/06/2023 | Click here |
| Rare but not invisible: advancing genomic research and implementation for undiagnosed diseases | 03/05/2023 | Click here |
| The value of incorporating diverse perspectives to build shared solutions | 28/02/2023 | Click here |
| Academic Seminar: «Rare Diseases Program: from zero to hero» | 02/12/2020 | Click here |
| Meeting Rett Syndrome Families, OCTOBRETT | Rare diseases | 15/10/2022 | Click here |