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Jennifer N. Dines, Katie Golden-Grant, Amy LaCroix, Alison M. Muir, Dianne Laboy Cintron, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara Burton, Katherine Kim, Leah Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Ficicioglu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, Rene Santer, Kolja Becker, Sharon Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford
GENETICS IN MEDICINE
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Oncology
Ulrich Bick, Christoph Engel, Barbara Krug, Walter Heindel, Eva M. Fallenberg, Kerstin Rhiem, David Maintz, Michael Golatta, Dorothee Speiser, Dorothea Rjosk-Dendorfer, Irina Laemmer-Skarke, Frederic Dietzel, Karl Werner Fritz Schaefer, Elena Leinert, Stefanie Weigel, Stephanie Sauer, Stefanie Pertschy, Thomas Hofmockel, Anne Hagert-Winkler, Karin Kast, Anne Quante, Alfons Meindl, Marion Kiechle, Markus Loeffler, Rita K. Schmutzler, Jens-Uwe Blohmer, Denise Horn, Raymonda Varon-Mateeva, Verena Huebbel, Natalie Herold, Michael Puesken, Pauline Wimberger, Cornelia Meisel, Katja Keller, Gerald Antoch, Anne-Sophie Vesper, Tanja N. Fehm, Brigitte Schlegelberger, Bernd Auber, Hannah Wallaschek, Joerg Heil, Sarah Schott, Nicola Dikow, Christoph Mundhenke, Norbert Arnold, Almuth Caliebe, Susanne Briest, Johannes Lemke, Sabine Gril, Katharina Pfeifer, Juliane Ramser, Sven Mahner, Nina Ditsch, Christine Zeder-Goess, Joke Tio, Matthias Burg, Judith Horvath, Reiner Siebert, Jasmin Bartholomae, Wolfgang Janni, Thorsten Bley, Achim Woeckel, Thomas Haaf, Silke Zachariae, Karolin Bucksch, Ute Enders
BREAST CANCER RESEARCH AND TREATMENT
(2019)
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Genetics & Heredity
Enrico D. H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Ounap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenael Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C. J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietilainen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
GENETICS IN MEDICINE
(2019)
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Endocrinology & Metabolism
Nadine C. Hornig, Jeta Demiri, Pascal Rodens, Eva Maria Murga Penas, Almuth Caliebe, Anne Katrin Eckstein, Hans-Udo Schweikert, Laura Audi, Olaf Hiort, Ralf Werner, Alexandra E. Kulle, Ole Ammerpohl, Paul-Martin Holterhus
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2019)
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Oncology
Kirstin Hoff, Marta Lemme, Anne-Karin Kahlert, Kerstin Runde, Enrique Audain, Dorit Schuster, Jens Scheewe, Tim Attmann, Thomas Pickardt, Almuth Caliebe, Reiner Siebert, Hans-Heiner Kramer, Hendrik Milting, Arne Hansen, Ole Ammerpohl, Marc-Phillip Hitz
CLINICAL EPIGENETICS
(2019)
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Oncology
Vivek L. Patel, Evan L. Busch, Tara M. Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomaki, Elisa Alducci, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmana, Rosa B. Barkardottir, Daniel R. Barnes, Alicia Barroso, Daniel Barrowdale, Muriel Belotti, Javier Benitez, Brigitte Bertelsen, Marinus J. Blok, Istvan Bodrogi, Valerie Bonadona, Bernardo Bonanni, Davide Bondavalli, Susanne E. Boonen, Julika Borde, Ake Borg, Angela R. Bradbury, Angela Brady, Carole Brewer, Joan Brunet, Bruno Buecher, Saundra S. Buys, Santiago Cabezas-Camarero, Trinidad Caldes, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Ian G. Campbell, Ileana Carnevali, Estela Carrasco, Tsun L. Chan, Annie T. W. Chu, Wendy K. Chung, Kathleen B. M. Claes, Jackie Cook, Laura Cortesi, Fergus J. Couch, Mary B. Daly, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de la Hoya, Lara Della Puppa, Joe Dennis, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M. Domchek, Alan Donaldson, Bernd Dworniczak, Douglas F. Easton, Diana M. Eccles, Rosalind A. Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Ulrike Faust, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, George Fountzilas, Debra Frost, Vanesa Garcia-Barberan, Pilar Garre, Marion Gauthier-Villars, Lajos Geczi, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Angelica M. Gutierrez-Barrera, Eric Hahnen, Ute Hamann, Jan Hauke, Natalie Herold, Frans B. L. Hogervorst, Ellen Honisch, John L. Hopper, Peter J. Hulick, Louise Izatt, Agnes Jager, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Thomas Dyrso Jensen, Oskar Th Johannsson, Esther M. John, Vijai Joseph, Eunyoung Kang, Karin Kast, Johanna Kiiski, Sung-Won Kim, Zisun Kim, Kwang-Pil Ko, Irene Konstantopoulou, Gero Kramer, Lotte Krogh, Torben A. Kruse, Ava Kwong, Mirjam Larsen, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Jihyoun Lee, Jong Won Lee, Min Hyuk Lee, Johannes Lemke, Fabienne Lesueur, Annelie Liljegren, Annika Lindblom, Patricia Llovet, Adria Lopez-Fernandez, Irene Lopez-Perolio, Victor Lorca, Jennifer T. Loud, Edmond S. K. Ma, Phuong L. Mai, Siranoush Manoukian, Veronique Mari, Lynn Martin, Laura Matricardi, Noura Mebirouk, Veronica Medici, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Clare Miller, Denise Molina Gomes, Marco Montagna, Thea M. Mooij, Lidia Moserle, Emmanuelle Mouret-Fourme, Anna Marie Mulligan, Katherine L. Nathanson, Marie Navratilova, Heli Nevanlinna, Dieter Niederacher, Finn C. Cilius Nielsen, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo Olopade, Kai-Ren Ong, Ana Osorio, Claus-Eric Ott, Domenico Palli, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Annabeth Hogh Petersen, Mary E. Porteous, Miguel Angel Pujana, Paolo Radice, Juliane Ramser, Johanna Rantala, Muhammad U. Rashid, Kerstin Rhiem, Piera Rizzolo, Mark E. Robson, Matti A. Rookus, Caroline M. Rossing, Kathryn J. Ruddy, Catarina Santos, Claire Saule, Rosa Scarpitta, Rita K. Schmutzler, Helene Schuster, Leigha Senter, Caroline M. Seynaeve, Payal D. Shah, Priyanka Sharma, Vivian Y. Shin, Valentina Silvestri, Jacques Simard, Christian F. Singer, Anne-Bine Skytte, Katie Snape, Angela R. Solano, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Linda Steele, Doris Steinemann, Dominique Stoppa-Lyonnet, Agostina Stradella, Lone Sunde, Christian Sutter, Yen Y. Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Maria Grazia Tibiletti, Marc Tischkowitz, Silvia Tognazzo, Amanda E. Toland, Stefania Tommasi, Diana Torres, Angela Toss, Alison H. Trainer, Nadine Tung, Christi J. van Asperen, Frederieke H. van der Baan, Lizet E. van der Kolk, Rob B. van der Luijt, Liselotte P. van Hest, Liliana Varesco, Raymonda Varon-Mateeva, Alessandra Viel, Jeroen Vierstrate, Roberta Villa, Anna von Wachenfeldt, Philipp Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Greet Wieme, Siddhartha Yadav, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Kristin K. Zorn, Anthony D'Amico, Matthew L. Freedman, Mark M. Pomerantz, Georgia Chenevix-Trench, Antonis C. Antoniou, Susan L. Neuhausen, Laura Ottini, Henriette Roed Nielsen, Timothy R. Rebbeck
Article
Genetics & Heredity
Miles D. Thompson, Alexej A. Knaus, Bruce A. Barshop, Almuth Caliebe, Hiltrud Muhle, Thi Tuyet Mai Nguyen, Nissan Baratang, Taroh Kinoshita, Maire E. Percy, Philippe M. Campeau, Yoshiko Murakami, David E. Cole, Peter M. Krawitz, C. Charlton Mabry
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2020)
Article
Oncology
Anna-Lena Rumpf, Micaela Mathiak, Fritz K. Schaefer, Almuth Caliebe, Andre Farrokh, Mohamed Elessawy, Dirk O. Bauerschlag, Nicolai Maass, Marion van Mackelenbergh, Thorsten Heilmann
Summary: This article presents a rare case of a 36-year-old woman with a history of breast cancer and a 700-g breast hamartoma. The preoperative and postoperative specification of a suspected hamartoma remains challenging, and associations with genetic alterations should be considered.
Article
Genetics & Heredity
Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe, Regina Folster-Holst, Antonio Torrelo, Isabel Colmenero, Susan F. Steinberg, Judith Fischer
Summary: The similar clinical features of two unrelated patients were caused by different de novo mutations in the PRKD1 gene, one being a gain-of-function mutation and the other a loss-of-function mutation. This study expands the clinical spectrum of PRKD1 mutations.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Kloth Katja, Vater Inga, Lindschau Ramona, Isabella Rau, Caliebe Almuth, Muschol Nicole Maria
MOLECULAR GENETICS AND METABOLISM REPORTS
(2020)
Article
Genetics & Heredity
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Andreas Busche, Marie Coutelier, Deepthi C. de Silva, Nursel Elcioglu, Isabel Filges, Erica Gerkes, Katta M. Girisha, Luitgard Graul-Neumann, Aleksander Jamsheer, Peter Krawitz, Ingo Kurth, Susanne Markus, Andre Megarbane, Andre Reis, Miriam S. Reuter, Daniel Svoboda, Christopher Teller, Beyhan Tuysuz, Seval Turkmen, Meredith Wilson, Rixa Woitschach, Inga Vater, Almuth Caliebe, Wiebke Hulsemann, Denise Horn, Stefan Mundlos, Malte Spielmann
Summary: By conducting genome sequencing on 69 undiagnosed patients with congenital limb malformations, this study identified multiple potentially pathogenic genetic variants, including both known disease genes and novel disease genes. Additionally, complex structural variants were found, but no causative noncoding variants were identified.
Article
Genetics & Heredity
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M. G. Izarzugaza, Tomas W. Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wunnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S. Bassett, Woodrow D. Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers E. F. Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D. Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R. Marshall, Dianna M. Milewicz, Scott Lemaire, Joseph S. Coselli, Michael E. Mitchell, Aoy Tomita-Mitchell, Siddharth K. Prakash, Karl Stamm, Alexandre F. R. Stewart, Candice K. Silversides, Reiner Siebert, Brigitte Stiller, Jill A. Rosenfeld, Inga Vater, Alex V. Postma, Almuth Caliebe, J. David Brook, Gregor Andelfinger, Matthew E. Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Summary: This study conducted an integrative analysis of CNVs and DNVs in CHD patients, identifying a set of genes significantly affected by rare genomic variants in probands. The analysis strengthened disease association of known CHD genes and identified novel haploinsufficient CHD candidate genes.
Article
Multidisciplinary Sciences
Julian Knerr, Ralf Werner, Carsten Schwan, Hong Wang, Peter Gebhardt, Helga Groetsch, Almuth Caliebe, Malte Spielmann, Paul-Martin Holterhus, Robert Grosse, Nadine C. Hornig
Summary: Steroid hormone receptors are crucial for mammalian physiology and are involved in various conditions. Functional mutations in DAAM2 gene were found in patients with androgen insensitivity syndrome. DAAM2 is enriched in the nucleus and forms actin-dependent transcriptional droplets with AR in response to dihydrotestosterone, promoting gene expression and cellular functions. Our study reveals the signal-regulated nuclear actin assembly at a steroid hormone receptor, which is necessary for transcription.
Meeting Abstract
Oncology
Murga E. M. Penas, N. Gebauer, I. Oschlies, W. Klapper, N. von Bubnoff, A. Caliebe
ONCOLOGY RESEARCH AND TREATMENT
(2019)
Article
Oncology
Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna Kiiski, Taru A. Muranen, Daniel R. Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K. Bolla, Goska Leslie, Cora M. Aalfs, Muriel A. Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A. Agnarsson, Thomas Ahearn, Kristiina Aittomaki, Christine B. Ambrosone, Lesley Andrews, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Bernd Auber, Paivi Auvinen, Jacopo Azzollini, Judith Balmana, Rosa B. Barkardottir, Daniel Barrowdale, Julian Barwell, Laura E. Beane Freeman, Charles Joly Beauparlant, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Raanan Berger, Marina Bermisheva, Amie M. Blanco, Carl Blomqvist, Natalia Bogdanova, Anders Bojesen, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Angela F. Brady, Hiltrud Brauch, Hermann Brenner, Thomas Bruening, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldes, Almuth Caliebe, Maria A. Caligo, Daniele Campa, Ian G. Campbell, Federico Canzian, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Kathleen B. M. Claes, Christine L. Clarke, Anita Collavoli, Thomas A. Conner, David G. Cox, Cezary Cybulski, Kamila Czene, Mary B. Daly, Miguel de la Hoya, Peter Devilee, Orland Diez, Yuan Chun Ding, Gillian S. Dite, Nina Ditsch, Susan M. Domchek, Cecilia M. Dorfling, Isabel dos-Santos-Silva, Katarzyna Durda, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Carolina Ellberg, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, William D. Foulkes, Tara M. Friebel, Eitan Friedman, Marike Gabrielson, Pragna Gaddam, Manuela Gago-Dominguez, Chi Gao, Susan M. Gapstur, Judy Garber, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Mia M. Gaudet, Simon A. Gayther, Graham G. Giles, Gord Glendon, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Pascal Guenel, Angelica M. Gutierrez-Barrera, Lothar Haeberle, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Patricia A. Harrington, Alexander Hein, Jane Heyworth, Peter Hillemanns, Antoinette Hollestelle, John L. Hopper, H. Dean Hosgood, Anthony Howell, Chunling Hu, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, Claudine Isaacs, Milena Jakimovska, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Beth Y. Karlan, Elza Khusnutdinova, Cari M. Kitahara, Irene Konstantopoulou, Stella Koutros, Peter Kraft, Diether Lambrechts, Conxi Lazaro, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Jenna Lilyquist, Jennifer T. Loud, Karen H. Lu, Robert N. Luben, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Tabea Maurer, Dimitrios Mavroudis, Noura Mebirouk, Alfons Meindl, Usha Menon, Austin Miller, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, William G. 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Thull, Marc Tischkowitz, Rob A. E. M. Tollenaar, Diana Torres, Melissa A. Troester, Therese Truong, Nadine Tung, Michael Untch, Celine M. Vachon, Elizabeth J. van Rensburg, Elke M. van Veen, Ana Vega, Alessandra Viel, Barbara Wappenschmidt, Jeffrey N. Weitzel, Camilla Wendt, Greet Wieme, Alicja Wolk, Xiaohong R. Yang, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Alison M. Dunning, Michael Lush, Qin Wang, Lesley McGuffog, Michael T. Parsons, Paul D. P. Pharoah, Florentia Fostira, Amanda E. Toland, Irene L. Andrulis, Susan J. Ramus, Anthony J. Swerdlow, Mark H. Greene, Wendy K. Chung, Roger L. Milne, Georgia Chenevix-Trench, Thilo Doerk, Marjanka K. Schmidt, Douglas F. Easton, Paolo Radice, Eric Hahnen, Antonis C. Antoniou, Fergus J. Couch, Heli Nevanlinna, Jordi Surralles, Paolo Peterlongo, Rosemary Balleine, Robert Baxter, Stephen Braye, Jane Carpenter, Jane Dahlstrom, John Forbes, C. 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