| 36681873 | A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. | Genet Med | 2023 |
| 37711428 | Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project. | Front Psychiatry | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 33966137 | Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences. | J Autism Dev Disord | 2022 |
| 35757227 | Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey. | Front Psychiatry | 2022 |
| 36012761 | Differences in Expression of <i>IQSEC2</i> Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder. | Int J Mol Sci | 2022 |
| 33346930 | De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. | Am J Med Genet A | 2021 |
| 33849613 | Cost-of-illness studies in rare diseases: a scoping review. | Orphanet J Rare Dis | 2021 |
| 33502713 | Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study. | J Autism Dev Disord | 2021 |
| 33496278 | [Cost-effectiveness methods of newborn screening assessment.] | Rev Esp Salud Publica | 2021 |
| 34105798 | Progress, challenges and global approaches to rare diseases. | Acta Paediatr | 2021 |
| 34122158 | Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project. | Front Psychiatry | 2021 |
| 32088859 | Early non-social behavioural indicators of autism spectrum disorder (ASD) in siblings at elevated likelihood for ASD: a systematic review. | Eur Child Adolesc Psychiatry | 2021 |
| 33426479 | The case for open science: rare diseases. | JAMIA Open | 2020 |
| 31873296 | A call for global action for rare diseases in Africa. | Nat Genet | 2020 |
| 31832977 | Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease. | Hepatol Int | 2020 |
| 31772335 | Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships. | J Hum Genet | 2020 |
| 31794678 | A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review. | Biopreserv Biobank | 2019 |
| 29232161 | Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency. | Am J Respir Cell Mol Biol | 2018 |
| 30187843 | Prevalence of Autism Spectrum Disorder in a large Italian catchment area: a school-based population study within the ASDEU project. | Epidemiol Psychiatr Sci | 2018 |
| 30110963 | SpainUDP: The Spanish Undiagnosed Rare Diseases Program. | Int J Environ Res Public Health | 2018 |
| 29214177 | Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. | Biomed Res Int | 2017 |
| 29125504 | Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. | J Neuromuscul Dis | 2017 |
| 29194420 | Early Detection and Intervention of ASD: A European Overview. | Brain Sci | 2017 |
| 26860059 | Improving the informed consent process in international collaborative rare disease research: effective consent for effective research. | Eur J Hum Genet | 2016 |
| 26294444 | Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study. | J Public Health (Oxf) | 2016 |
| 27364514 | Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland. | J Autism Dev Disord | 2016 |
| 27296457 | Characterization of immune cell phenotypes in adults with autism spectrum disorders. | J Investig Med | 2016 |
| 27222291 | The risk of re-identification versus the need to identify individuals in rare disease research. | Eur J Hum Genet | 2016 |
| 25228300 | National registries of rare diseases in Europe: an overview of the current situation and experiences. | Public Health Genomics | 2015 |
| 25698495 | Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry. | Public Health | 2015 |
| 25667172 | Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries. | Environ Res | 2015 |
| 25746298 | A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities. | Environ Res | 2015 |
| 25604253 | The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. | Hum Mutat | 2015 |
| 24326482 | Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010. | Lupus | 2014 |
| 25287719 | Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. | Respir Res | 2014 |
| 25029978 | RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. | J Gen Intern Med | 2014 |
| 24818126 | Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease. | Biomed Res Int | 2014 |
| 23913485 | The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. | Hum Mutat | 2013 |
| 24503589 | The current situation and needs of rare disease registries in Europe. | Public Health Genomics | 2013 |
| 22519914 | The need for worldwide policy and action plans for rare diseases. | Acta Paediatr | 2012 |
| 20433043 | Health impact assessment of environmental tobacco smoke in European children: sudden infant death syndrome and asthma episodes. | Public Health Rep | 2010 |
| 17546489 | Estimating the burden of disease for autism spectrum disorders in Spain in 2003. | J Autism Dev Disord | 2008 |
| 18551252 | Cystic fibrosis mortality trends in Spain among infants and young children: 1981-2004. | Eur J Epidemiol | 2008 |
| 16236472 | Genetic approaches in the understanding of Toxic Oil Syndrome. | Toxicol Lett | 2006 |
| 16911019 | Child health and the environment: the INMA Spanish Study. | Paediatr Perinat Epidemiol | 2006 |
| 15979827 | Toxic oil syndrome: genetic restriction and immunomodulatory effects due to adulterated oils in a model of HLA transgenic mice. | Toxicol Lett | 2005 |
| 15913055 | [The Environment and Childhood Research Network ("INMA" network): study protocol]. | Rev Esp Salud Publica | 2005 |
| 14760700 | Determination of protein markers in human serum: Analysis of protein expression in toxic oil syndrome studies. | Proteomics | 2004 |
| 14670259 | [Review of ethical aspects in biomedical research. The experience of the Ethics Committee of the Center for Toxic Oil Syndrome and Rare Diseases [CISATER]]. | Gac Sanit | 2003 |