Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy von Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants von Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G

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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood von Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling von Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O, Krajewska-Walasek, Malgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome von Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X von Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

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Novel Variants of SOX4 in Patients with Intellectual Disability von Grosse, Martin, Kuechler, Alma, Dabir, Tabib, Spranger, Stephanie, Beck-Wödl, Stefanie, Bertrand, Miriam, Haack, Tobias B, Grasemann, Corinna, Manka, Eva, Depienne, Christel, Kaiser, Frank J

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Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy von Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Jamra, Rami Abou

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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy von Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications von Lissewski, Christina, Chune, Valerie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gerard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Helene, Tartaglia, Marco, Zenker, Martin

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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome von Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kuhl, Susanne J., Schanze, Denny, Klambt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kuhl, Michael, Onuchic-Whitford, Ana C., Treimer, Ernestine, Kitzler, Thomas M., Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T., Majmundar, Amar J., Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A., Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R., Soliman, Neveen A., Mane, Shrikant M., Lifton, Richard P., Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J., Zenker, Martin, Hildebrandt, Friedhelm

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome von Meyer, Robert, Begemann, Matthias, Huebner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schroeder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas

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The adult phenotype of Schaaf-Yang syndrome von Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wodl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P., Kuechler, Alma

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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome von Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut

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Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome von Kirchberg, Ina, Lainka, Elke, Gangfuß, Andrea, Kuechler, Alma, Baertling, Fabian, Schlieben, Lea D, Lenz, Dominic, Tschiedel, Eva

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Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q von Diquigiovanni, Chiara, Rizzardi, Nicola, Kampmeier, Antje, Liparulo, Irene, Bianco, Francesca, De Nicolo, Bianca, Cataldi-Stagetti, Erica, Cuna, Elisabetta, Severi, Giulia, Seri, Marco, Bertrand, Miriam, Haack, Tobias B, Marina, Adela Della, Braun, Frederik, Fato, Romana, Kuechler, Alma, Bergamini, Christian, Bonora, Elena

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Further evidence for POMK as candidate gene for WWS with meningoencephalocele von Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Koeninger, Angela, Iannaccone, Antonella, Hehr, Ute, Koelbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike, Kuechler, Alma

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome von Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, Jr, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K, Guillen Sacoto, Maria J, Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T, Mathie, Alistair, Klee, Eric W

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Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation von Soukup, Daniel, Kuechler, Alma, Roesler, Joachim, Pichlmaier, Leopold, Eckerland, Maximillian, Olivier, Margarete, Stehling, Florian

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13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping von Dittner-Moormann, Sabine, Reschke, Madlen, Biewald, Eva, Kuechler, Alma, Klein, Barbara, Timmermann, Beate, Lohmann, Dietmar, Ketteler, Petra, Kanber, Deniz

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