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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

Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel et al.
Human Genetics, 2020, 139 (11), pp.1381-1390. ⟨10.1007/s00439-020-02178-8⟩
Article dans une revue hal-03573698v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1