Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Summary

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Authors: Gemma Bullich; Leslie Matalonga; Montserrat Pujadas; Anastasios Papakonstantinou; Davide Piscia; Raúl Tonda; Rafael Artuch; Pia Gallano; Glòria Garrabou; Juan R. González; Daniel Grinberg; Míriam Guitart; Steven Laurie; Conxi Lázaro; Cristina Luengo; Ramon Martí; Montserrat Milà; David Ovelleiro; Genís Parra; Aurora Pujol; Eduardo Tizzano; Alfons Macaya; Francesc Palau; Antònia Ribes; Lui

Journal title: reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

Journal number: 1

Journal publisher: The journal of molecular diagnostics

Published year: 2022

DOI identifier: 10.1016/j.jmoldx.2022.02.003