Author
Fundación Progreso y SaludORCID 0000-0002-2329-8159Unclaimed 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.
Rosario Carmona, Javier Pérez-Florido, Gema Roldán…·CSVS Crowdsourcing Group
The paper analyzes genetic secondary findings in the Spanish population using the Collaborative Spanish Variant Server database, finding 5% of individuals have reportable variants in 32 ACMG-listed genes.
Alberto Maillo, Estefania Huergo, María Apellániz-Ruiz…·David Gómez-Cabrero
The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.
Daniel López-López, Carlos Loucera, Rosario Carmona…·Joaquı́n Dopazo
SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.