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NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

CARON B, LUO Y, RAUSELL A

Genome Biology 2019 20:32 https://doi.org/10.1186/s13059-019-1634-2


Mutations in ATP6AP2 cause autophagic liver disease in humans

Simons M Cannata Serio M, Rujano MA

Autophagy, 2018 14(6):1088-1089


The vacuolar ATPase is required for the epidermal wound healing response in Drosophila embryos

Simons M, Fraire-Zamora JJ

Wound Repair and Regeneration, 2018 26(1):102-107


Cortical developmental death: selected to survive or fated to die

Causeret F, Coppola E.,Pierani A

Current Opinion in Neurobiology 2018 Volume 53, Pages 35-42


Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C. Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi & Guillaume Canaud

Nature 2018 volume 558, pages540-546 (2018)


Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg,Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Picard, Marina Aloi, Jorge Amil Dias, Mongi Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronski, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, Alain Dabadie, Clémentine Dumant-Forest, Odul Egritas Gurkan, Alexandre Fabre, Aude Fischer, Marta German Diaz, Yago Gonzalez-Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaz Homan, Jean-Pierre Hugot, Eric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, Janos Major, Georgia Malamut, Emmanuel Mas, Istvan Mattyus, Luisa M Mearin, Jan Melek, Victor Manuel Navas-Lopez, Anders Paerregaard, Cecile Pelatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, Patrick Tounian, Dan Turner, Vaidotas Urbonas, Stéphanie Willot, Frank M Ruemmele & Nadine Cerf-Bensussan

Journal of Crohn's and Colitis, 2018 jjy068


Periosteum contains skeletal stem cells with highbone regenerative potential controlled by Periostin

Oriane Duchamp de Lageneste, Anaïs Julien, Rana Abou-Khalil, Giulia Frangi, Caroline Carvalho,Nicolas Cagnard, Corinne Cordier, Simon J. Conway& Céline Colnot

Nature Communications 2018 9(1):773. doi: 10.1038/s41467-018-03124-z.


Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus

Chiara Antoniani, Vasco Meneghini, Annalisa Lattanzi, Tristan Felix, Oriana Romano, Elisa Magrin, Leslie Weber, Giulia Pavani, Sara El Hoss, Ryo Kurita, Yukio Nakamura, Thomas J. Cradick, Ante S. Lundberg, Matthew Porteus, Mario Amendola, Wassim El Nemer, Marina Cavazzana, Fulvio Mavilio & Annarita Miccio

Blood, 2018 10-811505


Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Jacinta Bustamante & Jean-Laurent Casanova Xiao-Fei Kong, Ruben Martinez-Barricarte, James Kennedy, Federico Mele, Tomi Lazarov, Elissa K. Deenick, Cindy S. Ma, Gaëlle Breton, Kimberly B. Lucero, David Langlais, Aziz Bousfiha, Caner Aytekin, Janet Markle, Céline Trouillet, Fabienne Jabot-Hanin, Cecilia S. Lindestam Arlehamn, Geetha Rao, Capucine Picard, Théo Lasseau, Daniela Latorre, Sophie Hambleton, Caroline Deswarte, Yuval Itan, Katia Abarca, Dewton Moraes-Vasconcelos, Fatima Ailal, Aydan Ikinciogullari, Figen Dogu, Ibtihal Benhsaien, Alessandro Sette, Laurent Abel, Stéphanie Boisson-Dupuis, Bernd Schröder, Michel C. Nussenzweig, Kang Liu, Frédéric Geissmann, Stuart G. Tangye, Philippe Gros, Federica Sallusto

Nature Immunology 2018 , volume 19, pages973-985 (2018)


Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Jacinta Bustamante & Jean-Laurent Casanova Xiao-Fei Kong, Ruben Martinez-Barricarte, James Kennedy, Federico Mele, Tomi Lazarov, Elissa K. Deenick, Cindy S. Ma, Gaëlle Breton, Kimberly B. Lucero, David Langlais, Aziz Bousfiha, Caner Aytekin, Janet Markle, Céline Trouillet, Fabienne Jabot-Hanin, Cecilia S. Lindestam Arlehamn, Geetha Rao, Capucine Picard, Théo Lasseau, Daniela Latorre, Sophie Hambleton, Caroline Deswarte, Yuval Itan, Katia Abarca, Dewton Moraes-Vasconcelos, Fatima Ailal, Aydan Ikinciogullari, Figen Dogu, Ibtihal Benhsaien, Alessandro Sette, Laurent Abel, Stéphanie Boisson-Dupuis, Bernd Schröder, Michel C. Nussenzweig, Kang Liu, Frédéric Geissmann, Stuart G. Tangye, Philippe Gros, Federica Sallusto

Nature Immunology 2018 , volume 19, pages973-985 (2018)