Diagnostic value of partial exome sequencing in developmental disorders von Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R, Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy von de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira‐Barbosa, Marcello H., Ferriani, Virgínia, Louzada‐Junior, Paulo, Marques, Wilson, Lourenço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.

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ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways—lessons from breast cancer patients von Sachsenweger, Juliane, Jansche, Rebecca, Merk, Tatjana, Heitmeir, Benedikt, Deniz, Miriam, Faust, Ulrike, Roggia, Cristiana, Tzschach, Andreas, Schroeder, Christopher, Riess, Angelika, Pospiech, Helmut, Peltoketo, Hellevi, Pylkäs, Katri, Winqvist, Robert, Wiesmüller, Lisa

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy von Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions von Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.

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Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results von Runge, Kimon, Reisert, Marco, Feige, Bernd, Nickel, Kathrin, Urbach, Horst, Venhoff, Nils, Tzschach, Andreas, Schiele, Miriam A., Hannibal, Luciana, Prüss, Harald, Domschke, Katharina, Tebartz van Elst, Ludger, Endres, Dominique

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability von LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika

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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation von Endres, Dominique, Decher, Niels, Roehr, Isabell, Vowinkel, Kirsty, Domschke, Katharina, Komlosi, Katalin, Tzschach, Andreas, Glaeser, Birgitta, Schiele, Miriam A., Runge, Kimon, Suess, Patrick, Schuchardt, Florian, Nickel, Kathrin, Stallmeyer, Birgit, Rinne, Susanne, Schulze-Bahr, Eric, van Elst, Ludger Tebartz

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation von Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

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Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation von Schnause, Anna Clara, Komlosi, Katalin, Herr, Barbara, Neesen, Juergen, Dremsek, Paul, Schwarz, Thomas, Tzschach, Andreas, Jaegle, Sabine, Lausch, Ekkehart, Fischer, Judith, Glaeser, Birgitta

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Correction: Diagnostic value of partial exome sequencing in developmental disorders von Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R, Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability von Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum von Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

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Mapping translocation breakpoints by next-generation sequencing von Chen, Wei, Kalscheuer, Vera, Tzschach, Andreas, Menzel, Corinna, Ullmann, Reinhard, Schulz, Marcel Holger, Erdogan, Fikret, Li, Na, Kijas, Zofia, Arkesteijn, Ger, Pajares, Isidora Lopez, Goetz-Sothmann, Margret, Heinrich, Uwe, Rost, Imma, Dufke, Andreas, Grasshoff, Ute, Glaeser, Birgitta, Vingron, Martin, Ropers, H Hilger

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BOD1 Is Required for Cognitive Function in Humans and Drosophila von Esmaeeli-Nieh, Sahar, Fenckova, Michaela, Porter, Iain M, Motazacker, M Mahdi, Nijhof, Bonnie, Castells-Nobau, Anna, Asztalos, Zoltan, Weißmann, Robert, Behjati, Farkhondeh, Tzschach, Andreas, Felbor, Ute, Scherthan, Harry, Sayfati, Seyed Morteza, Ropers, H Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Swedlow, Jason R, Schenck, Annette, Kuss, Andreas W

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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans von Pak, ChangHui, Garshasbi, Masoud, Kahrizi, Kimia, Gross, Christina, Apponi, Luciano H, Noto, John J, Kelly, Seth M, Leung, Sara W, Tzschach, Andreas, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Mohseni, Marzieh, Jensen, Lars R, Hu, Hao, Huang, Brenda, Stahley, Sara N, Liu, Guanglu, Williams, Kathryn R, Burdick, Sharon, Feng, Yue, Sanyal, Subhabrata, Bassell, Gary J, Ropers, Hans-Hilger, Najmabadi, Hossein, Corbett, Anita H, Moberg, Kenneth H, Kuss, Andreas W

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family von Garshasbi, Masoud, Kahrizi, Kimia, Hosseini, Masoumeh, Nouri Vahid, Leila, Falah, Masoumeh, Hemmati, Sahel, Hu, Hao, Tzschach, Andreas, Ropers, Hans Hilger, Najmabadi, Hossein, Kuss, Andreas Walter

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? von Hackmann, Karl, Rump, Andreas, Haas, Stefan A., Lemke, Johannes R., Fryns, Jean-Pierre, Tzschach, Andreas, Wieczorek, Dagmar, Albrecht, Beate, Kuechler, Alma, Ripperger, Tim, Kobelt, Albrecht, Oexle, Konrad, Tinschert, Sigrid, Schrock, Evelin, Kalscheuer, Vera M., Di Donato, Nataliya

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature von Walczak-Sztulpa, Joanna, Wisniewska, Marzena, Latos-Bielenska, Anna, Linné, Maja, Kelbova, Christina, Belitz, Britta, Pfeiffer, Lutz, Kalscheuer, Vera, Erdogan, Fikret, Kuss, Andreas W., Ropers, Hans-Hilger, Ullmann, Reinhard, Tzschach, Andreas

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