María Teresa Sánchez‐Calvín

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

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina Lopez-Grondona et al. · Journal of Medical Genetics · 2022 · 21 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

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome

Teresa Bada-Bosch, Ángel Sevillano, María Teresa Sánchez‐Calvín et al. · Nephrology Dialysis Transplantation · 2024 · 14 citations

Medicine, Genetics, Nephrology +12