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Neurogenetics
Original research
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation

Authors

  • Alessandro Geroldi Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy PubMed articlesGoogle scholar articles
  • Alessia Mammi Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Andrea Gaudio UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Serena Patrone Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy PubMed articlesGoogle scholar articles
  • Andrea La Barbera UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Paola Origone Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Clarissa Ponti Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Francesca Sanguineri Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Sara Massucco Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Neurology Clinic, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Lucio Marinelli Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Neurology Clinic, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Marina Grandis Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Neurology Clinic, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Angelo Schenone Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Neurology Clinic, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Paola Mandich Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Emilia Bellone Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  • Fabio Gotta UOC Medical Genetics, IRCCS Ospedale Policlinico San Martino, Genova, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Emilia Bellone, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences, University of Genoa, Genova, Italy; ebellone{at}unige.it
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Citation

Geroldi A, Mammi A, Gaudio A, et al
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
Journal of Medical Genetics 2024;61:847-852.

Publication history

  • Received March 27, 2024
  • Accepted June 4, 2024
  • First published June 13, 2024.
Online issue publication 
August 29, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.