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Mercedes Serrano Gimaré
Investigador
Research group
Professional network profiles
Last Publications
- Bloomfield M, Lautarescu A, Heraty S, Douglas S, Violland P, Plas R, Ghosh A, Van den Bosch K, Eaton E, Absoud M, Battini R, Blázquez Hinojosa A, Bolshakova N, Bölte S, Bonanni P, Borg J, Calderoni S, Calvo Escalona R, Castelo-Branco M, Castro-Fornieles J, Caro P, Cliquet F, Danieli A, Delorme R, Elia M, Hempel M, Leblond CS, Madeira N, McAlonan G, Milone R, Molloy CJ, Mouga S, Montiel MV, Pina Rodrigues A, Schaaf CP, Serrano M, Tammimies K, Tye C, Vigevano F, Oliveira G, Mazzone B, O'Neill C, Pender J, Romero V, Tillmann J, Oakley B, Murphy DGM, Gallagher L, Bourgeron T, Chatham C and Charman T European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry. BMJ Open . 14(6): .
- Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review PEDIATRIC NEUROLOGY . 155: 8-17.
- Gallego D, Serrano M, Cordoba-Caballero J, Gámez A, Seoane P, Perkins JR, Ranea JAG and Pérez B Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1870(5): 167163-167163.
Projects
- Project name:
- Contratos predoctorales de formación en investigación en salud_Beneficiari: Florencia Epifani
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI22/00218
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Early Treatment for children with mental health problems and Genetic Abnormalities through a Parenting intervention (The GAP): a pragmatic randomized controlled trial
- Leader
- Laia Villalta Maciá
- Funding entities:
- Fundació La Marató de TV3, Villalta Maciá, Laia
- Code
- 202236-10
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Innovative Medicines Initiative 2 Joint EU: Autism Innovative Medicine Studies – 2 – Trials’ —‘AIMS-2-TRIALS’
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- European Commission
- Code
- 777394
- Starting - finishing date:
- 2023 - 2025
News
-
First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.
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Professionals at Sant Joan de Déu make it easier for doctors around the world to diagnose a rare disease
They analysed the most remarkable traits of children suffering from PMM2-CDG and designed an app that uses a photograph of the patient's face to suggest a diagnosis.