Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2 von Rajab, Anna, van Bokhoven, Hans, Foulquier, Francois, Gruenewald, Stephanie, Lefeber, Dirk, Van Maldergem, Lionel, Morava, Eva, Reynders, Ellen, Urban, Zsolt, Wevers, Ron, Mundlos, Stefan, Annaert, Wim, Nürnberg, Peter, Kornak, Uwe, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Budde, Birgit, Brunner, Han G, Matthijs, Gert

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Inborn errors of metabolism leading to neuronal migration defects von Schiller, Stina, Rosewich, Hendrik, Grünewald, Stephanie, Gärtner, Jutta

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia von Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up von Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation von Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

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Clinical presentation and outcome in a series of 88 patients with the cblC defect von Fischer, Sabine, Huemer, Martina, Baumgartner, Matthias, Deodato, Federica, Ballhausen, Diana, Boneh, Avihu, Burlina, Alberto B., Cerone, Roberto, Garcia, Paula, Gökçay, Gülden, Grünewald, Stephanie, Häberle, Johannes, Jaeken, Jaak, Ketteridge, David, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Martins, Esmeralda G., Schwab, Karl O., Gruenert, Sarah C., Schwahn, Bernd C., Sztriha, László, Tomaske, Maren, Trefz, Friedrich, Vilarinho, Laura, Rosenblatt, David S., Fowler, Brian, Dionisi-Vici, Carlo

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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry von Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

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Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies von Lefeber, Dirk J., Schönberger, Johannes, Morava, Eva, Guillard, Mailys, Huyben, Karin M., Verrijp, Kiek, Grafakou, Olga, Evangeliou, Athanasios, Preijers, Frank W., Manta, Panagiota, Yildiz, Jef, Grünewald, Stephanie, Spilioti, Martha, van den Elzen, Christa, Klein, Dominique, Hess, Daniel, Ashida, Hisashi, Hofsteenge, Jan, Maeda, Yusuke, van den Heuvel, Lambert, Lammens, Martin, Lehle, Ludwig, Wevers, Ron A.

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation von Lefeber, Dirk J, de Brouwer, Arjan P M, Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H M, Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M R, Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A

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Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG von Thompson, Dorothy A., Lyons, Ruth J., Russell-Eggitt, Isabelle, Liasis, Alki, Jägle, Herbert, Grünewald, Stephanie

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Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression von Achouitar, Samira, Mohamed, Miski, Gardeitchik, Thatjana, Wortmann, Saskia B., Sykut-Cegielska, Jolanta, Ensenauer, Regina, de Baulny, Hélène Ogier, Õunap, Katrin, Martinelli, Diego, de Vries, Maaike, McFarland, Robert, Kouwenberg, Dorus, Theodore, Miranda, Wijburg, Frits, Grünewald, Stephanie, Jaeken, Jaak, Wevers, Ron A., Nijtmans, Leo, Elson, Joanna, Morava, Eva

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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up von Altassan, Ruqaiah, Peanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena-Barrio, Maria Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Gruenewald, Stephanie, Hernandez-Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-de-Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Ounap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczynska, Malgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut-Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari-Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular [H.sup.+]-ATPase subunit ATP6V0A2 von Kornak, Uwe, Reynders, Ellen, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Rajab, Anna, Budde, Birgit, Nurnberg, Peter, Foulquier, Francois, Lefeber, Dirk, Urban, Zsolt, Gruenewald, Stephanie, Annaert, Wim, Brunner, Han G, van Bokhoven, Hans, Wevers, Ron, Morava, Eva, Matthijs, Gert, Van Maldergem, Lionel, Mundlos, Stefan

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2 von Kornak, Uwe, Reynders, Ellen, Dimopoulou, Aikaterini, Van Reeuwijk, Jeroen, Fischer, Bjoern, Rajab, Anna, Budde, Birgit, Nuernberg, Peter, Foulquier, Francois, Lefeber, Dirk, Urban, Zsolt, Gruenewald, Stephanie, Annaert, Wim, Brunner, Han G, Van Bokhoven, Hans, Wevers, Ron, Morava, Eva, Matthijs, Gert, Van Maldergem, Lionel, Mundlos, Stefan

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6VOA2 von KORNAK, Uwe, REYNDERS, Ellen, URBAN, Zsolt, GRUENEWALD, Stephanie, ANNAERT, Wim, BRUNNER, Han G, VAN BOKHOVEN, Hans, WEVERS, Ron, MORAVA, Eva, MATTHIJS, Gert, VAN MALDERGEM, Lionel, MUNDLOS, Stefan, DIMOPOULOU, Aikaterini, DOBYNS, William B, QUELHAS, Dulce, VILARINHO, Laura, LEAO-TELES, Elisa, GREALLY, Marie, SEEMANOVA, Eva, SIMANDLOVA, Martina, SALIH, Mustafa, NANDA, Arti, BASEL-VANAGAITE, Lina, VAN REEUWIJK, Jeroen, KAYSERILI, Hulya, YUKSEL-APAK, Memmune, LARREGUE, Marc, VIGNERON, Jacqueline, GIURGEA, Sanda, KORNAK, Uwe, MUNDLOS, Stefan, FISCHER, Bjoern, RAJAB, Anna, BUDDE, Birgit, NÜRNBERG, Peter, FOULQUIER, Francois, LEFEBER, Dirk

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Retinal On-Pathway Deficit in Congenital Disorder of Glycosylation Due to Phosphomannomutase Deficiency von Thompson, Dorothy A, Lyons, Ruth J, Liasis, Alki, Russell-Eggitt, Isabelle, Jägle, Herbert, Grünewald, Stephanie

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Long‐term outcome of brief augmented psychodynamic interpersonal therapy for psychogenic nonepileptic seizures: Seizure control and health care utilization von Mayor, Rebecca, Howlett, Stephanie, Grünewald, Richard, Reuber, Markus

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Efficacy and safety of baricitinib for the treatment of hospitalised adults with COVID-19 (COV-BARRIER): a randomised, double-blind, parallel-group, placebo-controlled phase 3 tria... von Marconi, Vincent C, Ramanan, Athimalaipet V, de Bono, Stephanie, Kartman, Cynthia E, Krishnan, Venkatesh, Liao, Ran, Piruzeli, Maria Lucia B, Goldman, Jason D, Alatorre-Alexander, Jorge, de Cassia Pellegrini, Rita, Estrada, Vicente, Som, Mousumi, Cardoso, Anabela, Chakladar, Sujatro, Crowe, Brenda, Reis, Paulo, Zhang, Xin, Adams, David H, Ely, E Wesley, Ahn, Mi-Young, Akasbi, Miriam, Alatorre-Alexander, Jorge, Altclas, Javier David, Ariel, Federico, Ariza, Horacio Alberto, Atkar, Chandrasekhar, Bertetti, Anselmo, Bhattacharya, Meenakshi, Briones, Maria Luisa, Budhraja, Akshay, Burza, Aaliya, Camacho Ortiz, Adrian, Caricchio, Roberto, Casas, Marcelo, Cevoli Recio, Valeria, Choi, Won Suk, Cohen, Emilia, Comulada-Rivera, Angel, Cornejo Juarez, Dora Patricia, Daniel, Carnevali, Degrecci Relvas, Luiz Fernando, Dominguez Cherit, Jose Guillermo, Ellerin, Todd, Enikeev, Dmitry, Erico Tanni Minamoto, Suzana, Estrada, Vicente, Fiss, Elie, Furuichi, Motohiko, Giovanni Luz, Kleber, Goldman, Jason D., Gonzalez, Omar, Gordeev, Ivan, Gruenewald, Thomas, Hamamoto Sato, Victor Augusto, Heo, Eun Young, Heo, Jung Yeon, Hermida, Maria, Hirai, Yuji, Hutchinson, David, Iastrebner, Claudio, Ioachimescu, Octavian, Jain, Manish, Juliani Souza Lima, Maria Patelli, Khan, Akram, Kremer, Andreas E., MacElwee, Mark, Madhani-Lovely, Farah, Martínez Resendez, Michel Fernando, McKinnell, James, Milligan, Patrick, Minelli, Cesar, Moran Rodriguez, Miguel Angel, Parody, Maria Leonor, Paulin, Priscila, Pellegrini, Rita de Cassia, Pemu, Priscilla, Procopio Carvalho, Ana Carolina, Puoti, Massimo, Purow, Joshua, Ramesh, Mayur, Robinson, Philip, Rodrigues, Cristhieni, Rojas Velasco, Gustavo, Saraiva, Jose Francisco Kerr, Scheinberg, Morton, Schreiber, Stefan, Scublinsky, Dario, Sevciovic Grumach, Anete, Shawa, Imad, Simon Campos, Jesus, Sofat, Nidhi, Sprinz, Eduardo, Stienecker, Roger, Suarez, Jose, Tachikawa, Natsuo, Tahir, Hasan, Tiffany, Brian, Vishnevsky, Alexander, Westheimer Cavalcante, Adilson, Zirpe, Kapil

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Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite von Grünewald, Thomas G P, Bernard, Virginie, Gilardi-Hebenstreit, Pascale, Raynal, Virginie, Surdez, Didier, Aynaud, Marie-Ming, Mirabeau, Olivier, Cidre-Aranaz, Florencia, Tirode, Franck, Zaidi, Sakina, Perot, Gaëlle, Jonker, Anneliene H, Lucchesi, Carlo, Le Deley, Marie-Cécile, Oberlin, Odile, Marec-Bérard, Perrine, Véron, Amélie S, Reynaud, Stephanie, Lapouble, Eve, Boeva, Valentina, Frio, Thomas Rio, Alonso, Javier, Bhatia, Smita, Pierron, Gaëlle, Cancel-Tassin, Geraldine, Cussenot, Olivier, Cox, David G, Morton, Lindsay M, Machiela, Mitchell J, Chanock, Stephen J, Charnay, Patrick, Delattre, Olivier

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Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits von O’Leary, Aet, Fernàndez-Castillo, Noèlia, Gan, Gabriela, Yang, Yunbo, Yotova, Anna Y., Kranz, Thorsten M., Grünewald, Lena, Freudenberg, Florian, Antón-Galindo, Ester, Cabana-Domínguez, Judit, Harneit, Anais, Schweiger, Janina I., Schwarz, Kristina, Ma, Ren, Chen, Junfang, Schwarz, Emanuel, Rietschel, Marcella, Tost, Heike, Meyer-Lindenberg, Andreas, Pané-Farré, Christiane A., Kircher, Tilo, Hamm, Alfons O., Burguera, Demian, Mota, Nina Roth, Franke, Barbara, Schweiger, Susann, Winter, Jennifer, Heinz, Andreas, Erk, Susanne, Romanczuk-Seiferth, Nina, Walter, Henrik, Ströhle, Andreas, Fehm, Lydia, Fydrich, Thomas, Lueken, Ulrike, Weber, Heike, Lang, Thomas, Gerlach, Alexander L., Nöthen, Markus M., Alpers, Georg W., Arolt, Volker, Witt, Stephanie, Richter, Jan, Straube, Benjamin, Cormand, Bru, Slattery, David A., Reif, Andreas

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