Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Bibliographic Details
Title: Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Authors: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana
Source: NPJ Genomic Medicine; 10/26/2024, Vol. 9 Issue 1, p1-24, 24p
Database: Complementary Index
More Details
ISSN:20567944
DOI:10.1038/s41525-024-00436-6
Published in:NPJ Genomic Medicine
Language:English