Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

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Authors: Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM.

Journal title: Frontiers in Genetics

Journal number: Volume 14

Journal publisher: Frontiers Media

Published year: 2023

DOI identifier: 10.3389/fgene.2023.1304520

ISSN: 1664-8021