Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Year: 2020
Type: article
Study design: Observational Study
Source: Human Genetics
Authors: Frederic Tran Mau-Them, Sebastien Moutton, Caroline Racine, Antonio Vitobello, Ange-Line Bruel, Sophie Nambot, Steven A. Kushner, Femke M. S. de Vrij, Daphné Lehalle, Nolwenn Jean-Marçais, François Lecoquierre, Julian Delanne, Julien Thevenon, Charlotte Poe, Thibaut Jouan, Martin Chevarin, David Geneviève, Marjolaine Willems, Christine Coubes, Nada Houcinat, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Emilie Tisserant, Patrick Callier, Arthur Sorlin, Yannis Duffourd, Laurence Faivre, Christophe Philippe, Christel Thauvin-Robinet
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3024165433