Irene Gómez-Manjón

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

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Ana Arteche‐López, MI. Álvarez-Mora, María Teresa Sánchez‐Calvín et al. · European Journal of Human Genetics · 2021 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

Juan Francisco Quesada‐Espinosa, L. Suárez Garzón, José Miguel Lezana Rosales et al. · Neurogenetics · 2021 · 15 citations

Medicine, Obstetrics, Human Genetics +5

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

María Isabel Álvarez‐Mora, Víctor Antonio Blanco-Palmero, Juan Francisco Quesada‐Espinosa et al. · International Journal of Molecular Sciences · 2022 · 13 citations · Full text

Medicine, Genetics, Neurology +17