Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

Por Pagin, Adrien, Devos, Aurore, Figeac, Martin, Truant, Maryse, Willoquaux, Christelle, Broly, Franck, Lalau, Guy
Publicado no PLoS One (2016)

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Por Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric
Publicado no Am J Hum Genet (2016)