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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; 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
Human Genetics · Vol. 139, Issue 11 · pp. 1381-1390 · 2020

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2020-11-01
Publication Year2020
Volume139
Issue11
Pages1381-1390
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-020-02178-8

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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