Author
Hospital Universitario Quirónsalud MadridORCID 0000-0003-3306-9832Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero…·Marina Mitjans
This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.
Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau
This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.
Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona…·Berta Almoguera
This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.
Rosario Francisco‐Velilla, Azman Embarc Buh, Francisco del Caño‐Ochoa…·Encarnación Martı́nez-Salas
The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.
Naama Hirsch, Idit Dahan, Eva D’haene…·Ramon Y. Birnbaum
The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.