Author
Health Research Institute of the Balearic IslandsORCID 0000-0002-1201-9118Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro
The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.
María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin
This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.
Nataliya Di Donato, Andrew Thom, Andreas Rump…·Siddharth Banka
The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.
Carmen Palma Milla, Aina Prat-Planas, Emma Soengas‐Gonda…·Roser Urreizti
This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.
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.
Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo…·Víctor Martínez‐Glez
The paper identifies somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.