María Isabel Álvarez‐Mora

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

María Isabel Álvarez‐Mora, Aurora Sánchez, Laia Rodríguez‐Revenga et al. · Orphanet Journal of Rare Diseases · 2022 · 62 citations · Full text

Life Sciences, 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

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

María Isabel Álvarez‐Mora, Rosa Calvo, Olga Puig Navarro et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 2016 · 32 citations

Medicine, Genetics, Molecular Genetics +14

<scp>MicroRNA</scp> expression profiling in blood from fragile X‐associated tremor/ataxia syndrome patients

María Isabel Álvarez‐Mora, Laia Rodríguez‐Revenga, Irene Madrigal et al. · Genes Brain & Behavior · 2013 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas et al. · Journal of Molecular Diagnostics · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17