First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

por Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina
Publicado 2020

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

por Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas
Publicado 2020

The impact of an audience response system on a summative assessment, a controlled field study

por Schmidt, Thorsten, Gazou, Anastasia, Rieß, Angelika, Rieß, Olaf, Grundmann-Hauser, Kathrin, Falb, Ruth, Schadeck, Malou, Heinrich, Tilman, Abeditashi, Mahkameh, Schmidt, Jana, Mau-Holzmann, Ulrike A., Schnabel, Kai P.
Publicado 2020

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort s...

por Rhiem, Kerstin, Engel, Christoph, Graeser, Monika, Zachariae, Silke, Kast, Karin, Kiechle, Marion, Ditsch, Nina, Janni, Wolfgang, Mundhenke, Christoph, Golatta, Michael, Varga, Dominic, Preisler-Adams, Sabine, Heinrich, Tilman, Bick, Ulrich, Gadzicki, Dorothea, Briest, Susanne, Meindl, Alfons, Schmutzler, Rita K
Publicado 2012

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

por Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2021

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

por Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana, Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph, Lemke, Johannes R., Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf, Schroeder, Christopher
Publicado 2019

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

por Falb, Ruth J, Müller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Stöbe, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmüller, Stephan, Beck-Wödl, Stefanie, Gläser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, Haack, Tobias B
Publicado 2023

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

por Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep
Publicado 2022

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

por Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
Publicado 2019