First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C by Ravel, Jean‐Marie, Comel, Margot, Wandzel, Marion, Bronner, Myriam, Tatopoulos, Aurélie, Renaud, Mathilde, Lambert, Laëtitia, Bursztejn, Anne‐Claire, Bonnet, Céline

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A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever by Ravel, Jean‐Marie, Dreumont, Natacha, Mosca, Pauline, Smith, Desiree E. C., Mendes, Marisa I., Wiedemann, Arnaud, Coelho, David, Schmitt, Emmanuelle, Rivière, Jean‐Baptiste, Tran Mau‐Them, Frédéric, Thevenon, Julien, Kuentz, Paul, Polivka, Marc, Fuchs, Sabine A., Kok, Gautam, Thauvin‐Robinet, Christel, Guéant, Jean‐Louis, Salomons, Gajja S., Faivre, Laurence, Feillet, François

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Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family by Biehler, Margaux, Ravel, Jean‐Marie, Tir, Mélissa, Calmels, Nadège, Schalk, Audrey

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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia by Ravel, Jean-Marie, Benkirane, Mehdi, Calmels, Nadège, Marelli, Cecilia, Ory-Magne, Fabienne, Ewenczyk, Claire, Halleb, Yosra, Tison, François, Lecocq, Claire, Pische, Guillaume, Casenave, Philippe, Chaussenot, Annabelle, Frismand, Solène, Tyvaert, Louise, Larrieu, Lise, Pointaux, Morgane, Drouot, Nathalie, Bossenmeyer-Pourié, Carine, Oussalah, Abderrahim, Guéant, Jean-Louis, Leheup, Bruno, Bonnet, Céline, Anheim, Mathieu, Tranchant, Christine, Lambert, Laëtitia, Chelly, Jamel, Koenig, Michel, Renaud, Mathilde

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Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study by Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia

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Comprehensive Map of the Regulated Cell Death Signaling Network: A Powerful Analytical Tool for Studying Diseases by Ravel, Jean-Marie, Monraz Gomez, L Cristobal, Sompairac, Nicolas, Calzone, Laurence, Zhivotovsky, Boris, Kroemer, Guido, Barillot, Emmanuel, Zinovyev, Andrei, Kuperstein, Inna

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Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study by Mergnac, Jean-Philippe, Wiedemann, Arnaud, Chery, Céline, Ravel, Jean-Marie, Namour, Farès, Guéant, Jean-Louis, Feillet, François, Oussalah, Abderrahim

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COVID19 Disease Map, a computational knowledge repository of virus–host interaction mechanisms by Ostaszewski, Marek, Niarakis, Anna, Mazein, Alexander, Phair, Robert, Orta‐Resendiz, Aurelio, Aghamiri, Sara Sadat, Acencio, Marcio Luis, Montrone, Corinna, Brauner, Barbara, Frishman, Goar, Monraz Gómez, Luis Cristóbal, Hoch, Matti, Kumar Gupta, Shailendra, Scheel, Julia, Borlinghaus, Hanna, Schreiber, Falk, Funahashi, Akira, Yamada, Takahiro G, Dräger, Andreas, Renz, Alina, Naveez, Muhammad, Bocskei, Zsolt, Börnigen, Daniela, Conti, Marta, Rameil, Marius, Nakonecnij, Vanessa, Vanhoefer, Jakob, Schmiester, Leonard, Wang, Muying, Ackerman, Emily E, Shoemaker, Jason E, Oxford, Kristie, Kocakaya, Ebru, Summak, Gökçe Yağmur, Hanspers, Kristina, Coort, Susan, Rex, Devasahayam Arokia Balaya, Slenter, Denise, Martens, Marvin, Pham, Nhung, Jassal, Bijay, Matthews, Lisa, Orlic‐Milacic, Marija, Senff Ribeiro, Andrea, Rothfels, Karen, Shamovsky, Veronica, Stephan, Ralf, Varusai, Thawfeek, Ravel, Jean‐Marie, Fraser, Rupsha, Ortseifen, Vera, Marchesi, Silvia, Gawron, Piotr, Heirendt, Laurent, Wu, Guanming, Riutta, Anders, Golebiewski, Martin, Goble, Carole, Hu, Xiaoming, Overall, Rupert W, Maier, Dieter, Bauch, Angela, Gyori, Benjamin M, Bachman, John A, Vega, Carlos, Grouès, Valentin, Vazquez, Miguel, Porras, Pablo, Iannuccelli, Marta, Sacco, Francesca, Yuryev, Anton, de Waard, Anita, Babur, Ozgun, Soliman, Sylvain, Valdeolivas, Alberto, Rian, Kinza, Helikar, Tomáš, Puniya, Bhanwar Lal, Treveil, Agatha, Olbei, Marton, Dugourd, Aurélien, Noël, Vincent, Calzone, Laurence, Sander, Chris, Freeman, Tom C, Augé, Franck, Hasenauer, Jan, Wolkenhauer, Olaf, Wilighagen, Egon L, Pico, Alexander R, Evelo, Chris T, Stein, Lincoln D, Hermjakob, Henning, D'Eustachio, Peter, Saez‐Rodriguez, Julio, Dopazo, Joaquin, Valencia, Alfonso, Kitano, Hiroaki, Auffray, Charles, Schneider, Reinhard

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HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy by Ollila, Hanna M., Ravel, Jean-Marie, Han, Fang, Faraco, Juliette, Lin, Ling, Zheng, Xiuwen, Plazzi, Giuseppe, Dauvilliers, Yves, Pizza, Fabio, Hong, Seung-Chul, Jennum, Poul, Knudsen, Stine, Kornum, Birgitte R., Dong, Xiao Song, Yan, Han, Hong, Heeseung, Coquillard, Cristin, Mahlios, Joshua, Jolanki, Otto, Einen, Mali, Arnulf, Isabelle, Högl, Birgit, Frauscher, Birgit, Crowe, Catherine, Partinen, Markku, Huang, Yu Shu, Bourgin, Patrice, Vaarala, Outi, Désautels, Alex, Montplaisir, Jacques, Mack, Steven J., Mindrinos, Michael, Fernandez-Vina, Marcelo, Mignot, Emmanuel

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Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia by Ravel, Jean-Marie, Michaud, Maud, Frismand, Solène, Puisieux, Salomé, Banneau, Guillaume, Benoist, Jean-François, Lambert, Laëtitia, Bonnet, Céline, Renaud, Mathilde

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Application of Atlas of Cancer Signalling Network in preclinical studies by Monraz Gomez, L Cristobal, Kondratova, Maria, Ravel, Jean-Marie, Barillot, Emmanuel, Zinovyev, Andrei, Kuperstein, Inna

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Next-generation sequencing: a decisive diagnostic aid for atypical Wilson’s disease by Jardel, Amory, Bonnet, Céline, Frismand-Kryloff, Solène, Ravel, Jean Marie, Schmitt, Emmanuelle, Obadia, Mickael Alexandre, Delassaux, Sébastien, Bronner, Myriam, Poujois, Aurelia, Renaud, Mathilde

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Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches by Niarakis, Anna, Ostaszewski, Marek, Mazein, Alexander, Kuperstein, Inna, Kutmon, Martina, Gillespie, Marc E, Funahashi, Akira, Acencio, Marcio Luis, Hemedan, Ahmed, Aichem, Michael, Klein, Karsten, Czauderna, Tobias, Burtscher, Felicia, Yamada, Takahiro G, Hiki, Yusuke, Hiroi, Noriko F, Hu, Finterly, Pham, Nhung, Ehrhart, Friederike, Willighagen, Egon L, Valdeolivas, Alberto, Dugourd, Aurelien, Messina, Francesco, Esteban-Medina, Marina, Peña-Chilet, Maria, Rian, Kinza, Soliman, Sylvain, Aghamiri, Sara Sadat, Puniya, Bhanwar Lal, Naldi, Aurélien, Helikar, Tomáš, Singh, Vidisha, Fernández, Marco Fariñas, Bermudez, Viviam, Tsirvouli, Eirini, Montagud, Arnau, Noël, Vincent, Ponce-de-Leon, Miguel, Maier, Dieter, Bauch, Angela, Gyori, Benjamin M, Bachman, John A, Luna, Augustin, Piñero, Janet, Furlong, Laura I, Balaur, Irina, Rougny, Adrien, Jarosz, Yohan, Overall, Rupert W, Phair, Robert, Perfetto, Livia, Matthews, Lisa, Rex, Devasahayam Arokia Balaya, Orlic-Milacic, Marija, Gomez, Luis Cristobal Monraz, De Meulder, Bertrand, Ravel, Jean Marie, Jassal, Bijay, Satagopam, Venkata, Wu, Guanming, Golebiewski, Martin, Gawron, Piotr, Calzone, Laurence, Beckmann, Jacques S, Evelo, Chris T, D'Eustachio, Peter, Schreiber, Falk, Saez-Rodriguez, Julio, Dopazo, Joaquin, Kuiper, Martin, Valencia, Alfonso, Wolkenhauer, Olaf, Kitano, Hiroaki, Barillot, Emmanuel, Auffray, Charles, Balling, Rudi, Schneider, Reinhard

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Étude des troubles cognitifs dans une cohorte de 20 patients atteints de paraplégie spastique héréditaire de type 4 (SPG4) : atteinte frontotemporale modérée avec hypométabolisme à... by Miroglio, Raphaël, Hocquel, Armand, Ravel, Jean-Marie, Lavigne, Laura, Bonnet, Céline, Verger, Antoine, Renaud, Mathilde

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Pénétrance incomplète et phénotype clinique étendu dans une mutation Lorraine d’ATL1 (SPG3A), étude couplée au TEP-18FDG by Hocquel, Armand, Ravel, Jean-Marie, Renaud, Mathilde, Antoine, Verger

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Évaluation du panel épilepsie-déficience intellectuelle pour le diagnostic des patients pédiatriques suivis au CHRU de Nancy by Deniaud, Pauline, Todosi, Calina, Bonnet, Céline, Ravel, Jean-Marie, Kuchenbuch, Mathieu, Lambert, Laëtitia

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Extension du spectre clinique de l’ataxie associée aux variations de STUB1 by Ravel, Jean-Marie, Benkirane, Mehdi, Calmels, Nadège, Lambert, Laëtitia, Koenig, Michel, Renaud, Mathilde

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HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy by Ollila, Hanna M., Ravel, Jean-Marie, Han, Fang, Faraco, Juliette, Lin, Ling, Zheng, Xiuwen, Plazzi, Giuseppe, Dauvilliers, Yves, Pizza, Fabio, Hong, Seung-Chul, Jennum, Poul, Knudsen, Stine, Kornum, Birgitte R., Dong, Xiao Song, Yan, Han, Hong, Heeseung, Coquillard, Cristin, Mahlios, Joshua, Jolanki, Otto, Einen, Mali, Arnulf, Isabelle, Högl, Birgit, Frauscher, Birgit, Crowe, Catherine, Partinen, Markku, Huang, Yu Shu, Bourgin, Patrice, Vaarala, Outi, Désautels, Alex, Montplaisir, Jacques, Mack, Steven J., Mindrinos, Michael, Fernandez-Vina, Marcelo, Mignot, Emmanuel

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Development of extracellular vesicle-based medicinal products: A position paper of the group “Extracellular Vesicle translatiOn to clinicaL perspectiVEs – EVOLVE France” by Silva, Amanda K.A., Morille, Marie, Piffoux, Max, Arumugam, Surendar, Mauduit, Phlippe, Larghero, Jérôme, Bianchi, Arnaud, Aubertin, Kelly, Blanc-Brude, Olivier, Noël, Danièle, Velot, Emilie, Ravel, Célia, Elie-Caille, Céline, Sebbagh, Anna, Boulanger, Chantal, Wilhelm, Claire, Rahmi, Gabriel, Raymond-Letron, Isabelle, Cherukula, Kondareddy, Montier, Tristan, Martinaud, Christophe, Bach, Jean-Marie, Favre-Bulle, Olivier, Spadavecchia, Jolanda, Jorgensen, Christian, Menasché, Philippe, Aussel, Clotilde, Chopineau, Joël, Mosser, Mathilde, Ullah, Matti, Sailliet, Nicolas, Luciani, Nathalie, Mathieu, Noëlle, Rautou, Pierre-Emmanuel, Brouard, Sophie, Boireau, Wilfrid, Jauliac, Sébastien, Dedier, Marianne, Trouvin, Jean-Hugues, Gazeau, Florence, Trouillas, Marina, Peltzer, Juliette, Monsel, Antoine, Banzet, Sébastien

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Proteomic identification of target proteins in normal but nonfertilizing sperm by Frapsauce, Cynthia, M.D, Pionneau, Cedric, M.D, Bouley, Julien, Ph.D, Delarouziere, Vanina, M.D, Berthaut, Isabelle, Ph.D, Ravel, Celia, Ph.D, Antoine, Jean-Marie, M.D, Soubrier, Florent, Ph.D, Mandelbaum, Jacqueline, M.D

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