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Author Details

Manuel Posada
Institute of Rare Diseases Research, Instituto de Salud Carlos III
1986
64
24
PMIDPaper TitleJournal TitlePublished Year
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
37711428Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project.Front Psychiatry2023
36935719Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.Front Public Health2023
33966137Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.J Autism Dev Disord2022
35757227Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.Front Psychiatry2022
36012761Differences in Expression of <i>IQSEC2</i> Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.Int J Mol Sci2022
33346930De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.Am J Med Genet A2021
33849613Cost-of-illness studies in rare diseases: a scoping review.Orphanet J Rare Dis2021
33502713Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study.J Autism Dev Disord2021
33496278[Cost-effectiveness methods of newborn screening assessment.]Rev Esp Salud Publica2021
34105798Progress, challenges and global approaches to rare diseases.Acta Paediatr2021
34122158Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project.Front Psychiatry2021
32088859Early non-social behavioural indicators of autism spectrum disorder (ASD) in siblings at elevated likelihood for ASD: a systematic review.Eur Child Adolesc Psychiatry2021
33426479The case for open science: rare diseases.JAMIA Open2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31832977Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.Hepatol Int2020
31772335Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.J Hum Genet2020
31794678A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review.Biopreserv Biobank2019
29232161Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.Am J Respir Cell Mol Biol2018
30187843Prevalence of Autism Spectrum Disorder in a large Italian catchment area: a school-based population study within the ASDEU project.Epidemiol Psychiatr Sci2018
30110963SpainUDP: The Spanish Undiagnosed Rare Diseases Program.Int J Environ Res Public Health2018
29214177Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.Biomed Res Int2017
29125504Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.J Neuromuscul Dis2017
29194420Early Detection and Intervention of ASD: A European Overview.Brain Sci2017
26860059Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.Eur J Hum Genet2016
26294444Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.J Public Health (Oxf)2016
27364514Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland.J Autism Dev Disord2016
27296457Characterization of immune cell phenotypes in adults with autism spectrum disorders.J Investig Med2016
27222291The risk of re-identification versus the need to identify individuals in rare disease research.Eur J Hum Genet2016
25228300National registries of rare diseases in Europe: an overview of the current situation and experiences.Public Health Genomics2015
25698495Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry.Public Health2015
25667172Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries.Environ Res2015
25746298A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities.Environ Res2015
25604253The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Hum Mutat2015
24326482Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010.Lupus2014
25287719Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.Respir Res2014
25029978RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.J Gen Intern Med2014
24818126Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease.Biomed Res Int2014
23913485The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Hum Mutat2013
24503589The current situation and needs of rare disease registries in Europe.Public Health Genomics2013
22519914The need for worldwide policy and action plans for rare diseases.Acta Paediatr2012
20433043Health impact assessment of environmental tobacco smoke in European children: sudden infant death syndrome and asthma episodes.Public Health Rep2010
17546489Estimating the burden of disease for autism spectrum disorders in Spain in 2003.J Autism Dev Disord2008
18551252Cystic fibrosis mortality trends in Spain among infants and young children: 1981-2004.Eur J Epidemiol2008
16236472Genetic approaches in the understanding of Toxic Oil Syndrome.Toxicol Lett2006
16911019Child health and the environment: the INMA Spanish Study.Paediatr Perinat Epidemiol2006
15979827Toxic oil syndrome: genetic restriction and immunomodulatory effects due to adulterated oils in a model of HLA transgenic mice.Toxicol Lett2005
15913055[The Environment and Childhood Research Network ("INMA" network): study protocol].Rev Esp Salud Publica2005
14760700Determination of protein markers in human serum: Analysis of protein expression in toxic oil syndrome studies.Proteomics2004
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 Sanit2003
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Collaborators

National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 12
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 8
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers 5
The University of Notre Dame Australia
Co-authored papers 5
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 4
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 4
Centre for Research Ethics & Bioethics, Uppsala University
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Wilhelm Foundation
Co-authored papers 3
Co-authored papers 3
King Edward Memorial Hospital
Co-authored papers 3
Institute for Biomedicine (Affiliated Institute of the University of Lubeck)
Co-authored papers 2
Leiden University Medical Center
Co-authored papers 2
Co-authored papers 2
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2
Co-authored papers 2
National Institutes of Health (NIH)
Co-authored papers 2
Big Data Institute, University of Oxford
Co-authored papers 2
University of Aveiro
Co-authored papers 1
Co-authored papers 1
Leiden University Medical Center
Co-authored papers 1
Joshua Frase Foundation
Co-authored papers 1
Novartis Gene Therapies
Co-authored papers 1
Leiden University Medical Center
Co-authored papers 1
University of Manchester
Co-authored papers 1
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
Co-authored papers 1
King Chulalongkorn Memorial Hospital, Chulalongkorn University
Co-authored papers 1
Radboud University Medical Center
Co-authored papers 1
University Children's Hospital Heidelberg
Co-authored papers 1