Antonio F Martinez Monseny
Ayudante de investigación
Research group
The researcher Antonio Martinez-Monseny graduated in Medicine in 2010 from the University of Valencia, finalized his MIR in Pediatrics in 2015 and is currently finalizing his Doctorate from the University of Barcelona.
In 2014, he visited the Boston Children's Hospital, where he attended and participated in the clinical consultations of Clinical Genetics, Metabolic and Genetic Counseling, and at the Hospital la Fe in Valencia participating in the work of the Genetics laboratory.
In 2015, he joined the Department of Clinical Genetics for the Service of Molecular and Genetic Medicine and the Pediatric Institute for Minority Illnesses (IPER) of the Hospital Sant Joan de Déu. He collaborates on the rarecommons.org platform of the same Hospital.
SJD Barcelona Children's Hospital Last Publications
- Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables. Diagnostics . 15(1): .
- 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.
- Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. HUMAN GENETICS . 143(3): 279-291.
Projects
- Project name:
- TRI-VIAE: Exploración tridimensional de la epigenética en trastornos del neurodesarrollo: potencial diagnóstico, aplicabilidad en la clínica y descubrimiento de nuevas firmas epigenéticas.
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Serrano Gimaré, Mercedes, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI24/00482
- Starting - finishing date:
- 2025 - 2027
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
- Project name:
- Programa MIMeS_Detección, prevención y tratamiento precoz de Salud Mental en pacientes con “Malalties Minoritàries Cognitiu-Conductuals de base Genètica
- Leader
- Mercedes Serrano Gimaré, Laia Villalta Maciá
- Funding entities:
- OSSJD - Obra Social Sant Joan de Déu
- Code
- Programa MIMeS
- Starting - finishing date:
- 2018 - 2025
News
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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.