Rogelio Simón

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Ana Arteche‐López, Maria José Gómez-Rodríguez, María Teresa Sánchez‐Calvín et al. · Genes · 2021 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spontaneous carotid and vertebral artery dissection in children

Ana Camacho, Alberto Villarejo‐Galende, Ana Martı́nez de Aragón et al. · Pediatric Neurology · 2001 · 45 citations

Medicine, Neurosurgery, Surgery +13

Macrophagic Myofasciitis in Childhood: A Controversial Entity

Eloy Rivas, Mercedes Gómez, José Ramón Ricoy et al. · Pediatric Neurology · 2005 · 30 citations

Medicine, Pathology, Pediatrics +6