Sebastián Vishnopolska

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Transcriptional Regulation, Pituitary Gland, Genetics +11

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders

Sebastián Vishnopolska, María F. Mercogliano, María Andrea Camilletti et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 36 citations · Full text

Genetics and genomic medicine in Argentina

Sebastián Vishnopolska, Adrián G. Turjanski, Mariana Herrera Piñero et al. · Molecular Genetics & Genomic Medicine · 2018 · 29 citations · Full text

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

María Inés Pérez‐Millán, Sebastián Vishnopolska, Alexandre Z. Daly et al. · Molecular Genetics & Genomic Medicine · 2018 · 27 citations · Full text

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

Neurological Disorder, Genetics, Disease Gene Identification +16