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Journal Article
Brandl, Caroline ORCID: 0000-0001-8223-6137, Schulz, Heidi L., Issa, Peter Charbel
ORCID: 0000-0002-0351-6673, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard H. F. and Stoehr, Heidi
(2017).
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Genes, 8 (7).
BASEL:
MDPI.
ISSN 2073-4425
Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas
ORCID: 0000-0001-7116-6364
(2016).
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J. Med. Genet., 53 (6).
S. 419 - 426.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E., Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Bluemcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R., Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Guenter, Weber, Bernhard H. F., Engel, Jutta and Schmutzler, Rita K.
(2018).
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
BMC Cancer, 18.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2407
Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares ORCID: 0000-0002-1553-0077, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker
ORCID: 0000-0001-9320-8684, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith
ORCID: 0000-0002-0762-6415, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl
ORCID: 0000-0003-3041-1938, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico
ORCID: 0000-0002-4261-4583, Carter, Jonathan
ORCID: 0000-0003-3871-2815, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela
ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina
ORCID: 0000-0001-7297-0645, Engel, Christoph
ORCID: 0000-0002-7247-282X, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal
ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei
ORCID: 0000-0003-0161-3274, Heyworth, Jane
ORCID: 0000-0003-1411-4554, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai
ORCID: 0000-0002-7933-151X, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene
ORCID: 0000-0002-0470-0309, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong
ORCID: 0000-0002-7433-9766, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha
ORCID: 0000-0003-3708-1732, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando
ORCID: 0000-0001-8933-0687, Moserle, Lidia
ORCID: 0000-0001-9066-6786, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan
ORCID: 0000-0002-8794-9635, Osorio, Ana
ORCID: 0000-0001-8124-3984, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana
ORCID: 0000-0002-1404-5897, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo
ORCID: 0000-0001-6298-4111, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil
ORCID: 0000-0002-0485-0120, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer
ORCID: 0000-0001-5077-0124, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra
ORCID: 0000-0003-2804-0840, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter
ORCID: 0000-0002-4472-8103, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane
ORCID: 0000-0001-5608-693X, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas and Yip, Desmond
ORCID: 0000-0002-2806-2401
(2019).
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Fritsche, Lars G., Igl, Wilmar, Bailey, Jessica N. Cooke, Grassmann, Felix ORCID: 0000-0003-1390-7528, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina
ORCID: 0000-0002-0839-9955, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki
ORCID: 0000-0002-0469-4631, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle
ORCID: 0000-0002-2015-6577, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang
ORCID: 0000-0001-8635-9310, Luo, Hongrong, Chen, Daniel, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Starke, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline
ORCID: 0000-0001-8223-6137, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun
ORCID: 0000-0001-9017-1652, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Main, Audo, Isabelle
ORCID: 0000-0003-0698-5309, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle
ORCID: 0000-0002-3155-2858, Hagbi-Levi, Shira
ORCID: 0000-0002-2891-0079, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Igo, Robert P., Jr., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini
ORCID: 0000-0003-3573-359X, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John
ORCID: 0000-0001-6250-5723, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin
ORCID: 0000-0001-9491-4898, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry
ORCID: 0000-0001-5692-8770, Zhang, Kang
ORCID: 0000-0002-4549-1697, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R. and Heid, Iris M.
(2016).
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nature Genet., 48 (2).
S. 134 - 144.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Grassmann, Felix ORCID: 0000-0003-1390-7528, Harsch, Sebastian, Brandl, Caroline
ORCID: 0000-0001-8223-6137, Kiel, Christina
ORCID: 0000-0003-3154-4847, Nuernberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki
ORCID: 0000-0002-0469-4631, Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa and Weber, Bernhard H. F.
(2019).
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.
JAMA Ophthalmol., 137 (8).
S. 867 - 877.
CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2168-6173
Hauke, Jan, Horvath, Judit, Gross, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert ORCID: 0000-0003-4523-8808, 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, Altmueller, Janine, Volk, Alexander E., Thiele, Holger, Huebbel, Verena, Nuernberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian
ORCID: 0000-0001-9915-1287, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph
ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric
(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 Cancer.
Cancer Med., 7 (4).
S. 1349 - 1359.
HOBOKEN:
WILEY.
ISSN 2045-7634
Kast, Karin, Rhiem, Kerstin, Wappenschmidt, Barbara, Hahnen, Eric, Hauke, Jan, Bluemcke, Britta, Zarghooni, Verena, Herold, Natalie, Ditsch, Nina, Kiechle, Marion, Braun, Michael, Fischer, Christine, Dikow, Nicola, Schott, Sarah ORCID: 0000-0002-1714-1147, Rahner, Nils, Niederacher, Dieter, Fehm, Tanja, Gehrig, Andrea, Mueller-Reible, Clemens, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Maass, Nicolai, Borck, Guntram, de Gregorio, Nikolaus, Scholz, Caroline, Auber, Bernd, Varon-Manteeva, Raymonda, Speiser, Dorothee, Horvath, Judit, Lichey, Nadine, Wimberger, Pauline, Stark, Sylvia, Faust, Ulrike, Weber, Bernhard H. F., Emons, Gunter, Zachariae, Silke, Meindl, Alfons, Schmutzler, Rita K. and Engel, Christoph
ORCID: 0000-0002-7247-282X
(2016).
Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
J. Med. Genet., 53 (7).
S. 465 - 472.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Kiel, Christina ORCID: 0000-0003-3154-4847, Berber, Patricia, Karlstetter, Marcus, Aslanidis, Alexander, Strunz, Tobias
ORCID: 0000-0002-3744-9595, Langmann, Thomas, Grassmann, Felix
ORCID: 0000-0003-1390-7528 and Weber, Bernhard H. F.
(2020).
A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization.
Int. J. Mol. Sci., 21 (8).
BASEL:
MDPI.
ISSN 1422-0067
Liao, David S., Grossi, Federico, V, El Mehdi, Delphine, Gerber, Monica R., Brown, David M., Heier, Jeffrey S., Wykoff, Charles C., Singerman, Lawrence J., Abraham, Prema, Grassmann, Felix ORCID: 0000-0003-1390-7528, Nuernberg, Peter, Weber, Bernhard H. F., Deschatelets, Pascal, Kim, Robert Y., Chung, Carol Y., Ribeiro, Ramiro M., Hamdani, Mohamed, Rosenfeld, Philip J., Boyer, David S., Slakter, Jason S. and Francois, Cedric G.
(2020).
Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration A Randomized Phase 2 Trial.
Ophthalmology, 127 (2).
S. 186 - 196.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1549-4713
Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith
ORCID: 0000-0002-0762-6415, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan
ORCID: 0000-0003-1945-3512, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia
ORCID: 0000-0002-8696-8922, 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, Jesus, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Veronique, Eccles, Diana M., Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique Cr, Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gomez, Carolina, Garcia, Encarna B. Gomez, Gonzalez, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutierrez-Enriquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas Vo, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Huebbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda Am, Jeschke, Udo, Kaulfuss, Silke, Keupp, Katharina, Kiechle, Marion, Koelbl, 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, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, 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, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela
ORCID: 0000-0001-7515-3608, Rofes, Paula
ORCID: 0000-0001-6045-7879, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, 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., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara
ORCID: 0000-0001-7540-7284, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana
ORCID: 0000-0003-4871-6668, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra
ORCID: 0000-0003-2804-0840, 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, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela
ORCID: 0000-0002-7275-5571, Radice, Paolo
ORCID: 0000-0001-6298-4111, Engel, Christoph
ORCID: 0000-0002-7247-282X, Schmutzler, Rita K., Goldgar, David E. and Spurdle, Amanda B.
(2019).
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum. Mutat., 40 (9).
S. 1557 - 1579.
HOBOKEN:
WILEY.
ISSN 1098-1004
Pohl, Esther, Hauke, Jan, Horvath, Judit, Dworniczak, Bernd, Gehrig, Andrea, Niederacher, Dieter, Arnold, Norbert ORCID: 0000-0003-4523-8808, Sutter, Christian, Smogavec, Mateja, Just, Walter, Weber, Bernhard H. F., Hentschel, Julia, Faust, Ulrike, Hackmann, Karl, Schmidt, Gunnar, Gross, Eva, Ramser, Juliane, Rhiem, Kerstin, Hahnen, Eric and Schmutzler, Rita K.
(2017).
NGS-based multi-gene panel analysis in BRCA1/2 negative breast and ovarian cancer families.
J. Clin. Oncol., 35.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 1527-7755
Pujol-Lereis, Luciana, Liebisch, Gerhard, Schick, Tina, Fauser, Sascha, Grassmann, Felix and Weber, Bernhard H. F. (2017). Serum lipidomic analysis showed a dysregulation of sphingolipids in AMD patients, which may reflect the response of cells to lipid peroxidation products. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Pujol-Lereis, Luciana M., Liebisch, Gerhard ORCID: 0000-0003-4886-0811, Schick, Tina, Lin, Yuchen, Grassmann, Felix
ORCID: 0000-0003-1390-7528, Uchida, Koji
ORCID: 0000-0003-3894-5299, Zipfel, Peter F., Fauser, Sascha, Skerka, Christine and Weber, Bernhard H. F.
(2018).
Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration.
PLoS One, 13 (8).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava ORCID: 0000-0002-6968-9489, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, T. L., Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inez, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J., McGuffog, Lesley, Parsons, Michael T., Leslie, Goska, Aalfs, Cora M., Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomaki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo
ORCID: 0000-0002-9364-9778, Balmana, Judith
ORCID: 0000-0002-0762-6415, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel
ORCID: 0000-0002-8113-1410, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, SusanM., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Ejlertsen, Bent, Engel, Christoph
ORCID: 0000-0002-7247-282X, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadalo, Lidia
ORCID: 0000-0002-1736-0112, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvao, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie
ORCID: 0000-0002-0328-3320, Gesta, Paul, Giannini, Giuseppe
ORCID: 0000-0003-0299-4056, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, James, Paul
ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Jensen, Uffe Birk
ORCID: 0000-0002-6205-6355, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Kim, Sung-Won, Konstantopoulou, Irene
ORCID: 0000-0002-0470-0309, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lazaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne
ORCID: 0000-0001-7404-4549, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan
ORCID: 0000-0003-2931-3003, Machackova, Eva, Manoukian, Siranoush, Mari, Veronique, Martinez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie
ORCID: 0000-0002-7239-5297, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne
ORCID: 0000-0003-1558-3627, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Ofverholm, Anna, Ong, Kai-ren, Osorio, Ana
ORCID: 0000-0001-8124-3984, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana
ORCID: 0000-0002-1404-5897, Peruga, Nina, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo
ORCID: 0000-0001-6298-4111, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine
ORCID: 0000-0002-0067-9557, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa
ORCID: 0000-0002-6313-9005, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex
ORCID: 0000-0003-0028-7200, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc
ORCID: 0000-0002-7880-0628, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Toland, Amanda Ewart, Topka, Sabine
ORCID: 0000-0002-7767-4471, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana
ORCID: 0000-0003-4871-6668, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia
ORCID: 0000-0003-3587-339X, von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Antoniou, Antonis C. and Nathanson, Katherine L.
(2018).
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Hum. Mutat., 39 (5).
S. 593 - 621.
HOBOKEN:
WILEY.
ISSN 1098-1004
Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc ORCID: 0000-0002-6552-8362, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana
ORCID: 0000-0002-7965-7675, Varon, Raymonda, Schroeck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph
ORCID: 0000-0002-7247-282X, Lemke, Johannes R., Hartkopf, Andreas, Riess, Olaf and Schroeder, Christopher
(2019).
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer, 19 (1).
LONDON:
BMC.
ISSN 1471-2407
Strunz, Tobias ORCID: 0000-0002-3744-9595, Kiel, Christina
ORCID: 0000-0003-3154-4847, Grassmann, Felix
ORCID: 0000-0003-1390-7528, Ratnapriya, Rinki
ORCID: 0000-0002-0469-4631, Kwicklis, Madeline, Karlstetter, Marcus, Fauser, Sascha, Arend, Nicole, Swaroop, Anand
ORCID: 0000-0002-1975-1141, Langmann, Thomas, Wolf, Armin and Weber, Bernhard H. F.
(2020).
A mega-analysis of expression quantitative trait loci in retinal tissue.
PLoS Genet., 16 (9).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404
Waksmunski, Andrea R., Grunin, Michelle ORCID: 0000-0002-3155-2858, Kinzy, Tyler G., Igo, Robert P., Jr., Haines, Jonathan L., Bailey, Jessica N. Cooke, Fritsche, Lars G., Igl, Wilmar, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabrielle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad, I, Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine A., Mohand-Said, Saddek, Sahel, Jose-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas, V, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frederic, Blanche, Helene, Deleuze, Jean-Francois, Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Renee, Brantley, Milam A., Jr., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke, I, Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Leveillard, Thierry
ORCID: 0000-0001-5692-8770, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Goncalo R. and Heid, Iris M.
(2019).
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration.
Invest. Ophthalmol. Vis. Sci., 60 (12).
S. 4041 - 4052.
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783