I. Hidalgo Mayoral

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

Alejandro Segura-Tudela, I. Gómez-Manjón, M. Moreno-García, 2021, Genes.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2022, Genes.

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

Miguel Ángel Martín, M. Moreno-García, A. Arteche-López, 2021, European Journal of Human Genetics.

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2

M. de la Hoya, L. Robles, Alicia Gómez-Sanz, 2023, Genes.

Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.

C. P. Milla, S. Llamas-Velasco, M. Moreno-García, 2022, European journal of medical genetics.