Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome von Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly von Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing von Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders von Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

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An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy von Sevin, Caroline, Barth, Magalie, Wilds, Alexandra, Afriyie, Abena, Walz, Markus, Dillon, Annamarie, Howie, Kenneth, Pang, Francis

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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish von Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco

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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network von Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies von Lodi, Lorenzo, Melki, Isabelle, Bondet, Vincent, Seabra, Luis, Rice, Gillian I., Carter, Edwin, Lepelley, Alice, Martin-Niclós, Maria José, Al Adba, Buthaina, Bader-Meunier, Brigitte, Barth, Magalie, Blauwblomme, Thomas, Bodemer, Christine, Boespflug-Tanguy, Odile, Dale, Russel C., Desguerre, Isabelle, Ducrocq, Camille, Dulieu, Fabienne, Dumaine, Cécile, Ellul, Pierre, Hadchouel, Alice, Hentgen, Véronique, Hié, Miguel, Hully, Marie, Jeziorski, Eric, Lévy, Romain, Mochel, Fanny, Orcesi, Simona, Passemard, Sandrine, Pouletty, Marie, Quartier, Pierre, Renaldo, Florence, Seidl, Rainer, Shetty, Jay, Neven, Bénédicte, Blanche, Stéphane, Duffy, Darragh, Crow, Yanick J., Frémond, Marie-Louise

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ZNF668 deficiency causes a recognizable disorder of DNA damage repair von Alsaif, Hessa S., Al Ali, Hatoon, Faqeih, Eissa, Ramadan, Sahar M., Barth, Magalie, Colin, Estelle, Prouteau, Clément, Bonneau, Dominique, Ziegler, Alban, Alkuraya, Fowzan S.

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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria von Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

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Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma von Richard, Jeremy, Beauvillain, Céline, Benoit, Maxime, Barth, Magalie, Aubert, Cécile, Rolley, Cyrielle, Bellal, Sarah, Bourreau, Jennifer, Ferragu, Matthieu, Lebdai, Souhil, Chevrollier, Arnaud, Henrion, Daniel, Procaccio, Vincent, Bigot, Pierre

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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders von Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent

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Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I von Pontrucher, Audrey, Barth, Magalie, Ziegler, Alban, Chao de la Barca, Juan Manuel, Mirebeau-Prunier, Delphine, Reynier, Pascal, Homedan, Chadi

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Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review von Riquin, Elise, Duverger, Philippe, Cariou, Cindy, Barth, Magalie, Prouteau, Clément, Van Bogaert, Patrick, Bonneau, Dominique, Roy, Arnaud

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Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series von Riquin, Elise, Barth, Magalie, Le Nerzé, Thomas, Pasquini, Natwin, Prouteau, Clement, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud

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Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series von Riquin, Elise, Le Nerzé, Thomas, Pasquini, Natwin, Barth, Magalie, Prouteau, Clément, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud

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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases von Cavestro, Chiara, Morra, Francesca, Legati, Andrea, D'Amato, Marco, Nasca, Alessia, Iuso, Arcangela, Lubarr, Naomi, Morrison, Jennifer L., Wheeler, Patricia G., Serra‐Juhé, Clara, Rodríguez‐Santiago, Benjamín, Turón‐Viñas, Eulalia, Prouteau, Clement, Barth, Magalie, Hayflick, Susan J., Ghezzi, Daniele, Tiranti, Valeria, Di Meo, Ivano

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Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS von Desquiret-Dumas, Valerie, Gueguen, Naig, Barth, Magalie, Chevrollier, Arnaud, Hancock, Saege, Wallace, Douglas C., Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent

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Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders von Michael, Julianne, VanSickle, Elizabeth, Vipond, Marlie, Dalman, Abby, Prokop, Jeremy, Schwartz, Charles E, Rajasekaran, Surender, Bachmann, André S, Barth, Magalie, Prouteau, Clément, Almagor, Yotam, Berkun, Lina, Alterescu, Gheona, Bupp, Caleb P

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Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients von Denamur, Sophie, Touati, Guy, Debelleix, Stéphane, Damaj, Léna, Barth, Magalie, Tardieu, Marine, Gorce, Magali, Broué, Pierre, Lacombe, Didier, Labarthe, François

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