Publications by authors named "Manuel Posada"

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Manuel Posada

Nat Med· August 2025

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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.
Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L Cellai, Manuel Posada

Front Public Health· May 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Manuel Posada

Nat Med· February 2025

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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L Cellai, Manuel Posada

Front Public Health· November 2023

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Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health.
Maria Luisa Scattoni, Laura Maria Fatta, Martina Micai, Maria Enrica Sali, Marina Bellomo, Manuel Posada

Child Adolesc Psychiatry Ment Health· October 2023

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Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project.
Célia Rasga, João Xavier Santos, Cátia Café, Alexandra Oliveira, Frederico Duque, Manuel Posada

Front Psychiatry· August 2023

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Manuel Posada

Genet Med· April 2023

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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L Cellai, Manuel Posada

Front Public Health· March 2023

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Differences in Expression of Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Beatriz Baladron, Lidia M Mielu, Estrella López-Martín, Maria J Barrero, Lidia Lopez, Manuel Posada

Int J Mol Sci· August 2022

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Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.
Martina Micai, Francesca Fulceri, Tommaso Salvitti, Giovanna Romano, Luise Poustka, Manuel Posada

Front Psychiatry· June 2022

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Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.
Martina Micai, Antonio Ciaramella, Tommaso Salvitti, Francesca Fulceri, Laura Maria Fatta, Manuel Posada

J Autism Dev Disord· April 2022

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Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study.
Maria Luisa Scattoni, Martina Micai, Antonio Ciaramella, Tommaso Salvitti, Francesca Fulceri, Manuel Posada

J Autism Dev Disord· November 2021

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Progress, challenges and global approaches to rare diseases.
Stephen C Groft, Manuel Posada, Domenica Taruscio

Acta Paediatr· October 2021

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Early non-social behavioural indicators of autism spectrum disorder (ASD) in siblings at elevated likelihood for ASD: a systematic review.
Daniela Canu, Sara Van der Paelt, Ricardo Canal-Bedia, Manuel Posada, Marleen Vanvuchelen

Eur Child Adolesc Psychiatry· April 2021

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Cost-of-illness studies in rare diseases: a scoping review.
Lidia García-Pérez, Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada, Inigo Gorostiza

Orphanet J Rare Dis· April 2021

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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Beatriz Martinez-Delgado, Estrella Lopez-Martin, Julián Lara-Herguedas, Sara Monzon, Isabel Cuesta, Manuel Posada

Am J Med Genet A· March 2021

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[Cost-effectiveness methods of newborn screening assessment.].
Cristina Valcárcel Nazco, Lidia García Pérez, Renata Linertová, Iván Castilla, Laura Vallejo Torres, Manuel Posada

Rev Esp Salud Publica· January 2021

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The case for open science: rare diseases.
Yaffa R Rubinstein, Peter N Robinson, William A Gahl, Paul Avillach, Gareth Baynam, Manuel Posada

JAMIA Open· October 2020

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Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Carlos Rodríguez-Martín, Cristina Robledo, Gema Gómez-Mariano, Sara Monzón, Ana Sastre, Manuel Posada

J Hum Genet· January 2020

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Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.
Gema Gómez-Mariano, Nerea Matamala, Selene Martínez, Iago Justo, Alberto Marcacuzco, Manuel Posada

Hepatol Int· January 2020

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A call for global action for rare diseases in Africa.
Gareth S Baynam, Stephen Groft, Francois H van der Westhuizen, Safiyya D Gassman, Kelly du Plessis, Manuel Posada

Nat Genet· January 2020

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A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review.
Lisa Devereux, Peter H Watson, Anne-Marie Mes-Masson, Francisco Luna-Crespo, Gerry Thomas, Manuel Posada

Biopreserv Biobank· December 2019

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SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
Estrella López-Martín, Beatriz Martínez-Delgado, Eva Bermejo-Sánchez, Javier Alonso, , Manuel Posada

Int J Environ Res Public Health· August 2018

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Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Nerea Matamala, Beatriz Lara, Gema Gomez-Mariano, Selene Martínez, Diana Retana, Manuel Posada

Am J Respir Cell Mol Biol· June 2018

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