Publications

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.
Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:


GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.
Hum Mutat 2013 Jun 3;34(6):842-6. Epub 2013 Apr 3.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens.
Biology (Basel) 2012 Dec 5;1(3):766-77. Epub 2012 Dec 5.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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