A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy von Antona, Vincenzo, Scalia, Federica, Giorgio, Elisa, Radio, Francesca C, Brusco, Alfredo, Oliveri, Massimiliano, Corsello, Giovanni, Lo Celso, Fabrizio, Vadalà, Maria, Conway de Macario, Everly, Macario, Alberto J L, Cappello, Francesco, Giuffrè, Mario

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A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases von Létocart, Emilie, Le Gac, Gérald, Majore, Silvia, Ka, Chandran, Radio, Francesca C., Gourlaouen, Isabelle, De Bernardo, Carmelilia, Férec, Claude, Grammatico, Paola

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POGZ‐related epilepsy: Case report and review of the literature von Ferretti, Alessandro, Barresi, Sabina, Trivisano, Marina, Ciolfi, Andrea, Dentici, Maria L., Radio, Francesca C., Vigevano, Federico, Tartaglia, Marco, Specchio, Nicola

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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations von Carli, Diana, Giorgio, Elisa, Pantaleoni, Francesca, Bruselles, Alessandro, Barresi, Sabina, Riberi, Evelise, Licciardi, Francesco, Gazzin, Andrea, Baldassarre, Giuseppina, Pizzi, Simone, Niceta, Marcello, Radio, Francesca C., Molinatto, Cristina, Montin, Davide, Calvo, Pier L., Ciolfi, Andrea, Fleischer, Nicole, Ferrero, Giovanni B., Brusco, Alfredo, Tartaglia, Marco

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Small 4p16.3 deletions: Three additional patients and review of the literature von Bernardini, Laura, Radio, Francesca C., Acquaviva, Fabio, Gorgone, Cristina, Postorivo, Diana, Torres, Barbara, Alesi, Viola, Magliozzi, Monia, Lonardo, Fortunato, Monica, Matteo Della, Nardone, Anna M., Cesario, Claudia, Mattina, Teresa, Scarano, Gioacchino, Dallapiccola, Bruno, Digilio, Maria C., Novelli, Antonio

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing von Jackson, Adam, Benetti, Elisa, Bruel, Ange-Line, Ellwanger, Kornelia, Fallerini, Chiara, Hoischen, Alexander, Kleefstra, Tjitske, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Verloes, Alain, Martín, Estrella López, Morleo, Manuela, Nigro, Vicenzo, Thauvin, Christel, Zguro, Kristina, Horvath, Rita, Morsy, Heba, Nelson, Isabelle, Vandrovcova, Jana, Schulze-Hentrich, Julia M, Kessler, Christoph, Schöls, Ludger, Hengel, Holger, Brunner, Han, van de Warrenburg, Bart, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J, Manera, Jordi Diaz, Alexander, Elizabeth, Gut, Ivo Glynne, Corvo, Alberto, Lagorce, David, Chahdil, Maroua, Lebreton, Emeline, Davoine, Claire-Sophie, Allamand, Valérie, Stojkovic, Tanya, Thomasová, Dana, Doležalová, Pavla, Thomas, Coline, Spalding, Dylan, Patch, Christine, Hanna, Mike, Efthymiou, Stephanie, Cali, Elisa, Rohrer, Jonathan, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, Weckhuysen, Sarah, Banfi, Sandro, Musacchia, Francesco, Aretz, Stefan, Sommer, Anna Katharina, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Fernandes, Susana, Johansson, Lennart, Keren, Boris, Capella, Gabriel, Holinski-Feder, Elke, Carpancea, Evelina, Pérez-Dueñas, Belén, Marcé-Grau, Anna, Hemelsoet, Dimitri, Dermaut, Bart, Zara, Federico, Uva, Paolo, Scudieri, Paolo, Claeys, Kristl, Thompson, Rachel, Grimbacher, Bodo, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Molnar, Maria Judit, Guerrini, Renzo, Schon, Katherine, Furini, Simone, Goldenberg, Alice, Masurel, Alice, Reversade, Bruno, Quélin, Chloé, Colin, Estelle, Perthus, Isabelle, Pinson, Lucile, Ruaud, Lyse, Vincent, Marie, Fradin, Mélanie, Houcinat, Nada, Boute, Odile, Passemard, Sandrine, Grotto, Sarah, Nambot, Sophie, Lyonnet, Stanislas, Drouin-Garraud, Valérie, Alembik, Yves

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Front Cover, Volume 40, Issue 6 von Carli, Diana, Giorgio, Elisa, Pantaleoni, Francesca, Bruselles, Alessandro, Barresi, Sabina, Riberi, Evelise, Licciardi, Francesco, Gazzin, Andrea, Baldassarre, Giuseppina, Pizzi, Simone, Niceta, Marcello, Radio, Francesca C., Molinatto, Cristina, Montin, Davide, Calvo, Pier L., Ciolfi, Andrea, Fleischer, Nicole, Ferrero, Giovanni B., Brusco, Alfredo, Tartaglia, Marco

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum von Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

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Long-Term Outcomes and Prognostic Factors After Pencil-Beam Scanning Proton Radiation Therapy for Spinal Chordomas: A Large, Single-Institution Cohort von Snider, James W., Schneider, Ralf A., Poelma-Tap, Davey, Stieb, Sonja, Murray, Fritz R., Placidi, Lorenzo, Albertini, Francesca, Lomax, Antony, Bolsi, Alessandra, Kliebsch, Ulrike, Malyapa, Robert, Weber, Damien C.

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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype von Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females von Radio, Francesca Clementina, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Weiss, Karin, Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Holder, Jimmy Lloyd, Tartaglia, Marco

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Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes von Flex, Elisabetta, Albadri, Shahad, Radio, Francesca Clementina, Cecchetti, Serena, Lauri, Antonella, Priolo, Manuela, Kissopoulos, Marta, Carpentieri, Giovanna, Fasano, Giulia, Venditti, Martina, Magliocca, Valentina, Bellacchio, Emanuele, Welch, Carrie L, Colombo, Paolo C, Kochav, Stephanie M, Chang, Richard, Barrick, Rebekah, Trivisano, Marina, Micalizzi, Alessia, Borghi, Rossella, Messina, Elena, Mancini, Cecilia, Pizzi, Simone, De Santis, Flavia, Rosello, Marion, Specchio, Nicola, Compagnucci, Claudia, McWalter, Kirsty, Chung, Wendy K, Del Bene, Filippo, Tartaglia, Marco

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Loss‐of‐Function Variants in $CUL3$ Cause a Syndromic Neurodevelopmental Disorder von Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau‐Them, Frederic Tran

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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy von Lahrouchi, Najim, Postma, Alex V, Salazar, Christian M, De Laughter, Daniel M, Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z, Zimmerman, Dominic, Lodder, Elisabeth M, Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y, Burn, Sabrina C, Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M, Wolf, Barry, Kim, Katherine H, Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C, Ten Harkel, Arend D.J., Manten, Gwendolyn Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R

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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome von Cordeddu, Viviana, Macke, Erica L., Radio, Francesca Clementina, Lo Cicero, Stefania, Pantaleoni, Francesca, Tatti, Massimo, Bellacchio, Emanuele, Ciolfi, Andrea, Agolini, Emanuele, Bruselles, Alessandro, Brunetti‐Pierri, Nicola, Suri, Mohnish, Josephs, Katherine S., McEntagart, Meriel, Lanpher, Brendan, Nickels, Katherine C., Haworth, Andrea, Reed, Laura, Cappuccio, Gerarda, Mammi, Isabella, Tarnowski, Jessica M., Novelli, Antonio, Melis, Daniela, Callewaert, Bert, Dallapiccola, Bruno, Klee, Eric, Tartaglia, Marco

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging von Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco

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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder von Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann‐Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau‐Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal F., Lerner‐Ellis, Jordan, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Alexander P.A., Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Zampino, Giuseppe, Wortmann, Saskia B., Mayr, Johannes A., Feichtinger, René G., Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez‐Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun

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Brain malformations and seizures by impaired chaperonin function of TRiC von Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A, Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J, Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N, Monaghan, Kristin G, Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C, Rosenblum, Jessica, Haack, Tobias B, Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B, Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C, Frydman, Judith, Elbracht, Miriam, Kurth, Ingo

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing von Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian

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