Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

por Blomen, Chiara L., Pott, Aliaksandra, Volk, Alexander E., Budäus, Lars, Witzel, Isabell
Publicado 2021

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

por Volk, Alexander E., Weishaupt, Jochen H., Andersen, Peter M., Ludolph, Albert C., Kubisch, Christian
Publicado 2018

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

por Schoof, Melanie, Kordes, Uwe, Volk, Alexander E., Al-Kershi, Sina, Kresbach, Catena, Schüller, Ulrich
Publicado 2021

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

por Niemeyer, Elisabeth, Mofid, Hamid, Zornig, Carsten, Burandt, Eike-Christian, Stein, Alexander, Block, Andreas, Volk, Alexander E.
Publicado 2020

Horizontal gaze palsy with progressive scoliosis: Three novel ROBO3 mutations and descriptions of the phenotypes of four patients

por Volk, Alexander E., Carter, Oliver, Fricke, Julia, Herkenrath, Peter, Poggenborg, Jörg, Borck, Guntram, Demant, Andre W., Ivo, Roland, Eysel, Peer, Kubisch, Christian, Neugebauer, Antje
Publicado 2011

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

por Jandl, Nico Maximilian, Schmidt, Tobias, Rolvien, Tim, Stürznickel, Julian, Chrysostomou, Konstantin, von Vopelius, Emil, Volk, Alexander E., Schinke, Thorsten, Kubisch, Christian, Amling, Michael, Barvencik, Florian
Publicado 2020

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

por Denk, Johannes, Oberhauser, Felix, Kornhuber, Johannes, Wiltfang, Jens, Fassbender, Klaus, Schroeter, Matthias L., Volk, Alexander E., Diehl-Schmid, Janine, Prudlo, Johannes, Danek, Adrian, Landwehrmeyer, Bernhard, Lauer, Martin, Otto, Markus, Jahn, Holger
Publicado 2018

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

por Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E., Brooks, William S., Schofield, Peter R., Pastor, Pau, Kwok, John B. J.
Publicado 2013

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

por Prondzynski, Maksymilian, Lemoine, Marc D, Zech, Antonia TL, Horváth, András, Di Mauro, Vittoria, Koivumäki, Jussi T, Kresin, Nico, Busch, Josefine, Krause, Tobias, Krämer, Elisabeth, Schlossarek, Saskia, Spohn, Michael, Friedrich, Felix W, Münch, Julia, Laufer, Sandra D, Redwood, Charles, Volk, Alexander E, Hansen, Arne, Mearini, Giulia, Catalucci, Daniele, Meyer, Christian, Christ, Torsten, Patten, Monica, Eschenhagen, Thomas, Carrier, Lucie
Publicado 2019

Predicting disease progression in behavioral variant frontotemporal dementia

por Anderl‐Straub, Sarah, Lausser, Ludwig, Lombardi, Jolina, Uttner, Ingo, Fassbender, Klaus, Fliessbach, Klaus, Huppertz, Hans‐Jürgen, Jahn, Holger, Kornhuber, Johannes, Obrig, Hellmuth, Schneider, Anja, Semler, Elisa, Synofzik, Matthis, Danek, Adrian, Prudlo, Johannes, Kassubek, Jan, Landwehrmeyer, Bernhard, Lauer, Martin, Volk, Alexander E., Wiltfang, Jens, Diehl‐Schmid, Janine, Ludolph, Albert C., Schroeter, Matthias L., Kestler, Hans A., Otto, Markus
Publicado 2021

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study

por Schönecker, Sonja, Neuhofer, Christiane, Otto, Markus, Ludolph, Albert, Kassubek, Jan, Landwehrmeyer, Bernhard, Anderl-Straub, Sarah, Semler, Elisa, Diehl-Schmid, Janine, Prix, Catharina, Vollmar, Christian, Fortea, Juan, Huppertz, Hans-Jürgen, Arzberger, Thomas, Edbauer, Dieter, Feddersen, Berend, Dieterich, Marianne, Schroeter, Matthias L., Volk, Alexander E., Fließbach, Klaus, Schneider, Anja, Kornhuber, Johannes, Maler, Manuel, Prudlo, Johannes, Jahn, Holger, Boeckh-Behrens, Tobias, Danek, Adrian, Klopstock, Thomas, Levin, Johannes
Publicado 2018

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

por Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horváth, Judit, Niederacher, Dieter, Arnold, Norbert, Kaulfuß, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmüller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nürnberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2019

Clinico-genetic findings in 509 frontotemporal dementia patients

por Wagner, Matias, Lorenz, Georg, Volk, Alexander E., Brunet, Theresa, Edbauer, Dieter, Berutti, Riccardo, Zhao, Chen, Anderl-Straub, Sarah, Bertram, Lars, Danek, Adrian, Deschauer, Marcus, Dill, Veronika, Fassbender, Klaus, Fliessbach, Klaus, Götze, Katharina S., Jahn, Holger, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Uttner, Ingo, Vukovich, Ruth, Wiltfang, Jens, Winkler, Andrea S., Zhou, Qihui, Ludolph, Albert C., Oexle, Konrad, Otto, Markus, Diehl-Schmid, Janine, Winkelmann, Juliane
Publicado 2021

Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

por Lehmer, Carina, Oeckl, Patrick, Weishaupt, Jochen H, Volk, Alexander E, Diehl‐Schmid, Janine, Schroeter, Matthias L, Lauer, Martin, Kornhuber, Johannes, Levin, Johannes, Fassbender, Klaus, Landwehrmeyer, Bernhard, Schludi, Martin H, Arzberger, Thomas, Kremmer, Elisabeth, Flatley, Andrew, Feederle, Regina, Steinacker, Petra, Weydt, Patrick, Ludolph, Albert C, Edbauer, Dieter, Otto, Markus, Danek, Adrian, Feneberg, Emily, Anderl‐Straub, Sarah, von Arnim, Christine, Jahn, Holger, Schneider, Anja, Maler, Manuel, Polyakova, Maryna, Riedl, Lina, Wiltfang, Jens, Ziegler, Georg
Publicado 2017

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

por Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado 2018

Hot-spot KIF5A mutations cause familial ALS

por Brenner, David, Yilmaz, Rüstem, Müller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E, Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M, Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H
Publicado 2018

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Ca...

por Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang‐Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber‐Lassalle, Nana, Weber‐Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado 2018

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

por Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
Publicado 2014

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of...

por Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques
Publicado 2022

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023