Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly
Artem Kim,Clara Savary,Christele Dubourg,Wilfrid Carre,Charlotte Mouden,Houda Hamdi-Roze,Helene Guyodo,Jerome Le Douce,Laurent Pasquier,Elisabeth Flori,Marie Gonzales,Claire Beneteau,Odile Boute,Tania Attie-Bitach,Joelle Roume,Louise Goujon,Linda Akloul,Sylvie Odent,Erwan Watrin,Valerie Dupe,Marie de Tayrac,Veronique David, Emmanuelle Genin,Dominique Campion, Jean-Franc Comma Ois Dartigues,Jean-Francois Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig,Benjamin Grenier-Boley, Sebastien Letort,Pierre Lindenbaum, Vincent Meyer,Olivier Quenez, Christian Dina, Celine Bellenguez, Camille Charbonnier-Le Clezio, Joanna Giemza, Stephanie Chatel, Claude Ferec, Herve Le Marec, Luc Letenneur, Gael Nicolas,Karen Rouault, Delphine Bacq,Anne Boland, Doris Lechner, Cisca Wijmenga, Morris A. Swertz, P. Eline Slagboom, Gert-Jan B. van Ommen, Cornelia M. van Duijn, Dorret I. Boomsma, Paul I. W. de Bakker, Jasper A. Bovenberg, Anton J. M. de Craen, Marian Beekman, Albert Hofman, Gonneke Willemsen, Bruce Wolffenbuttel, Mathieu Platteel, Yuanping Du, Ruoyan Chen, Hongzhi Cao, Rui Cao, Yushen Sun, Jeremy Sujie Cao, Freerk van Dijk, Pieter B. T. Neerincx, Patrick Deelen, Martijn Dijkstra, George Byelas, Alexandros Kanterakis, Jan Bot, Kai Ye, Eric-Wubbo Lameijer, Martijn Vermaat, Jeroen F. J. Laros, Johan T. den Dunnen, Peter de Knijff, Lennart C. Karssen, Elisa M. van Leeuwen, Najaf Amin, Vyacheslav Koval, Fernando Rivadeneira, Karol Estrada,Jayne Y. Hehirkwa, Joep de Ligt, Abdel Abdellaoui, Jouke-Jan Hottenga, V. Mathijs Kattenberg, David van Enckevort, Hailiang Mei, Mark Santcroos, Barbera D. C. van Schaik, Robert E. Handsaker, Steven A. McCarroll, Evan E. Eichler, Arthur Ko, Peter Sudmant, Laurent C. Francioli, Wigard P. Kloosterman,Isaac J. Nijman, Victor Guryev
Brain（2018）
引用 42|浏览88
关键词
exome,holoprosencephaly,oligogenic inheritance,sonic hedgehog,primary cilia
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