Author
Hospital Sant Joan de Déu BarcelonaORCID 0000-0001-5659-9188Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 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.
Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees…·Ernest Turro
The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.
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.