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    • A decade of whole-exome sequencing in Brazilian neurology : from past insights to future perspectives 

      Quaio, Caio Robledo D'Angioli Costa; Silva, Thiago Yoshinaga Tonholo; Barsottini, Orlando Graziani Povoas; Camargos, Sarah Teixeira; França Júnior, Marcondes Cavalcante; Saute, Jonas Alex Morales; Marques Júnior, Wilson; Kok, Fernando; Pedroso, José Luiz (2025) [Journal article]
      Over the last decade, whole-exome sequencing (WES) has become a standard diagnostic tool, significantly transforming the landscape of clinical genetics and playing a pivotal role in the diagnosis of neurogenetic diseases. ...