Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder von Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study von Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics von Yépez, Vicente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Maja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L, Strom, Tim M, Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A, Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W, Wortmann, Saskia B, Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

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Recessive mutations in >VPS13D cause childhood onset movement disorders von Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J., Telegrafi, Aida, Henderson, Lindsay B., Lorenzo, Kerry, Wallace, Stephanie E., Glass, Ian A., Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy A., Campeau, Philippe M.

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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation von Andersen, Peter M, Nordström, Ulrika, Tsiakas, Konstantinos, Johannsen, Jessika, Volk, Alexander E, Bierhals, Tatjana, Zetterström, Per, Marklund, Stefan L, Hempel, Maja, Santer, René

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance von Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Coban Akdemir, Zeynep, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, Sahin, Ibrahim, Yildirim, Timur, Bayhan, Ilhan A., Bursali, Aysegul, Elmas, Muhsin, Yuksel, Zafer, Ozdemir, Ozturk, Silan, Fatma, Yildiz, Onur, Yesilbas, Osman, Isikay, Sedat, Balta, Burhan, Gu, Shen, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Tsiakas, Konstantinos, Hempel, Maja, Girisha, Katta Mohan, Gul, Davut, Posey, Jennifer E., Elcioglu, Nursel H., Tuysuz, Beyhan, Lupski, James R.

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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center von Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias

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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype von Demal, Till Joscha, Scholz, Tasja, Schüler, Helke, Olfe, Jakob, Fröhlich, Anja, Speth, Fabian, von Kodolitsch, Yskert, Mir, Thomas S., Reichenspurner, Hermann, Kubisch, Christian, Hempel, Maja, Rosenberger, Georg

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies von Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients von Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functio... von de Bagneaux, Pierre Coste, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J., Hempel, Maja, Flucher, Bernhard E., Kutsche, Kerstin

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Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population von Sismani, Carolina, Rapti, Stamatia-Maria, Iliopoulou, Pavlina, Spring, Anastasia, Neroutsou, Rozalia, Lagou, Magdalini, Robola, Marianna, Tsitsopoulos, Efstathios, Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Theodosiou, Athina, Syrrou, Maria, Fuchs, Sigrid, Hempel, Maja, Huhle, Dagmar, Liehr, Thomas, Ziegler, Monika, Duesberg, Max, Velissariou, Voula

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature von Bley, Annette, Denecke, Jonas, Kohlschuetter, Alfried, Schoen, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

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Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use von Worthmann, Anna, Ridder, Julius, Piel, Sharlaine Y. L., Evangelakos, Ioannis, Musfeldt, Melina, Voß, Hannah, O’Farrell, Marie, Fischer, Alexander W., Adak, Sangeeta, Sundd, Monica, Siffeti, Hasibullah, Haumann, Friederike, Kloth, Katja, Bierhals, Tatjana, Heine, Markus, Pertzborn, Paul, Pauly, Mira, Scholz, Julia-Josefine, Kundu, Suman, Fuh, Marceline M., Neu, Axel, Tödter, Klaus, Hempel, Maja, Knippschild, Uwe, Semenkovich, Clay F., Schlüter, Hartmut, Heeren, Joerg, Scheja, Ludger, Kubisch, Christian, Schlein, Christian

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies von Reuter, Miriam S, Zech, Michael, Hempel, Maja, Altmüller, Janine, Heung, Tracy, Pölsler, Laura, Santer, René, Thiele, Holger, Trost, Brett, Kubisch, Christian, Scherer, Stephen W, Rudnik-Schöneborn, Sabine, Bassett, Anne S, Lessel, Davor

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects von Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome von Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.

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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males von Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor

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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients von Renner, Sina, Schüler, Helke, Alawi, Malik, Kolbe, Verena, Rybczynski, Meike, Woitschach, Rixa, Sheikhzadeh, Sara, Stark, Veronika C., Olfe, Jakob, Roser, Elke, Seggewies, Friederike Sophia, Mahlmann, Adrian, Hempel, Maja, Hartmann, Melanie J., Hillebrand, Mathias, Wieczorek, Dagmar, Volk, Alexander Erich, Kloth, Katja, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Mitter, Diana, Altmüller, Janine, Wey-Fabrizius, Alexandra, Petersen, Christine, Rau, Isabella, Borck, Guntram, Kubisch, Christian, Mir, Thomas S., von Kodolitsch, Yskert, Kutsche, Kerstin, Rosenberger, Georg

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POLR3A variants with striatal involvement and extrapyramidal movement disorder von Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M. L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J. W., Wolf, Nicole I.

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