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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba, Marta; Rodriguez-Quiroga, Sergio Alejandro; Vega, Patricia Analía; Salinas, Valeria; Perez-Maturo, Josefina; Amartino, Hernán; Vásquez-Dusefante, Cecilia; Medina, Nancy; González-Morón, Dolores; Kauffman, Marcelo Andrés.
Affiliation
  • Córdoba M; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
  • Rodriguez-Quiroga SA; Programa de Medicina de Precisión y Genómica Clínica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Buenos Aires, Argentina.
  • Vega PA; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
  • Salinas V; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
  • Perez-Maturo J; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
  • Amartino H; Programa de Medicina de Precisión y Genómica Clínica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Buenos Aires, Argentina.
  • Vásquez-Dusefante C; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
  • Medina N; Programa de Medicina de Precisión y Genómica Clínica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Buenos Aires, Argentina.
  • González-Morón D; Servicio de Neurología Infantil, Hospital Universitario Austral, Buenos Aires, Argentina.
  • Kauffman MA; Consultorio de Neurogenética, Centro Universitario de Neurologia y Division Neurologia, Hospital J.M.Ramos Mejia, Facultad de Medicina, UBA, Buenos Aires, Argentina.
PLoS One ; 13(2): e0191228, 2018.
Article in En | MEDLINE | ID: mdl-29389947
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Cost-Benefit Analysis / High-Throughput Nucleotide Sequencing / Exome Sequencing / Nervous System Diseases Type of study: Diagnostic_studies / Health_economic_evaluation / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do sul / Argentina Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2018 Type: Article Affiliation country: Argentina
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Cost-Benefit Analysis / High-Throughput Nucleotide Sequencing / Exome Sequencing / Nervous System Diseases Type of study: Diagnostic_studies / Health_economic_evaluation / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: America do sul / Argentina Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2018 Type: Article Affiliation country: Argentina