Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test result may guide clinical decision making. The impl...
Main Authors: | Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2024-01-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/full |
Similar Items
-
Diagnostic tools should be used for the diagnosis of chemotherapy induced peripheral neuropathy in breast cancer patients receiving taxanes
by: Frank vanHaren, et al.
Published: (2022-10-01) -
Genome sequencing as a generic diagnostic strategy for rare disease
by: Gaby Schobers, et al.
Published: (2024-02-01) -
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
by: Elke de Boer, et al.
Published: (2023-07-01) -
The Genetics of Intellectual Disability
by: Sandra Jansen, et al.
Published: (2023-01-01) -
Evaluation of FDG-PET/CT Use in Children with Suspected Infection or Inflammation
by: Fabienne G. Ropers, et al.
Published: (2020-09-01)