The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessing the technical and clinical validity of GS for patients wit...

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Detalles Bibliográficos
Autores principales: van der Sanden, Bart P. G. H., Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A., Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T. R. M., Kleefstra, Tjitske, de Vries, Bert B. A., Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P., Stevens, Servi J., van den Wijngaard, Arthur, Brunner, Han G., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel R., Vissers, Lisenka E. L. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822884/
https://www.ncbi.nlm.nih.gov/pubmed/36114283
http://dx.doi.org/10.1038/s41431-022-01185-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822884/
https://www.ncbi.nlm.nih.gov/pubmed/36114283
http://dx.doi.org/10.1038/s41431-022-01185-9

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