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Research |
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
- ange-line.bruel@u-bourgogne.fr
- Ange-Line Bruel
- , Sophie Nambot
- , Virginie Quéré
- , Antonio Vitobello
- , Julien Thevenon
- , Mirna Assoum
- , Sébastien Moutton
- , Nada Houcinat
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Alain Verloès
- , Alexandra Karsenti
- , Alice Goldenberg
- , Aurélia Jacquette
- , Béatrice Jouret
- , Béatrice Laudier
- , Christine Coubes
- , Christine Francannet
- , Daphné Lehalle
- , David Geneviève
- , Delphine Heron
- , Didier Lacombe
- , Elise Schaefer
- , Elodie Lacaze
- , Emmanuel Jacquemin
- , Fabienne Prieur
- , Fanny Laffarge
- , Florence Petit
- , François Feillet
- , Gilles Morin
- , Gwenaëlle Diene
- , James Lespinasse
- , Jeanne Amiel
- , Judith Melki
- , Laëtitia Lambert
- , Laurence Perrin
- , Lucile Pinson
- , Marie-Line Jacquemont
- , Marie-Pierre Cordier-Alex
- , Marine Lebrun
- , Marion Gérard-Blanluet
- , Marjolaine Willems
- , Massimiliano Rossi
- , Nicolas Chassaing
- , Nicole Philip
- , Renaud Touraine
- , Salima El-Chehadeh
- , Séverine Audebert-Bellanger
- , Sophie Blesson
- , Yline Capri
- , Martin Chevarin
- , Thibaud Jouan
- , Charlotte Poë
- , Patrick Callier
- , Emilie Tisserand
- , Christophe Philippe
- , Frédéric Tran Mau Them
- , Yannis Duffourd
- , Laurence Faivre
- & Christel Thauvin-Robinet
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Research |
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
- ange-line.bruel@u-bourgogne.fr
- Ange-Line Bruel
- , Antonio Vitobello
- , Frédéric Tran Mau-Them
- , Sophie Nambot
- , Yannis Duffourd
- , Virginie Quéré
- , Paul Kuentz
- , Philippine Garret
- , Julien Thevenon
- , Sébastien Moutton
- , Daphné Lehalle
- , Nolwenn Jean-Marçais
- , Aurore Garde
- , Julian Delanne
- , Mathilde Lefebvre
- , François Lecoquierre
- , Detlef Trost
- , Megan Cho
- , Amber Begtrup
- , Aida Telegrafi
- , Pierre Vabres
- , Anne-Laure Mosca-Boidron
- , Patrick Callier
- , Christophe Philippe
- , Laurence Faivre
- & Christel Thauvin-Robinet
