Nancy Medina

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Vega et al. · PLoS ONE · 2018 · 86 citations · Full text

Life Sciences, Genetics, Neurology +15

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, Jonathan Zaiat et al. · PLoS ONE · 2015 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Valeria Salinas, Patricia Vega, María Victoria Piccirilli et al. · European Journal of Medical Genetics · 2018 · 33 citations

Life Sciences, Genetics, Molecular Genetics +15

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González‐Morón, Sebastián Vishnopolska, D. Consalvo et al. · PLoS ONE · 2017 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Leila Cohen, Analisa Manín, Nancy Medina et al. · Annals of Human Genetics · 2019 · 20 citations · Full text

Medicine, Genetics, Neurology +15