Not logged in The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors Kanetsky, Peter A.; Almstrup, Kristian; Cherlin, Svetlana; Cortessis, Victoria K.; Ferlin, Alberto; Gietema, Jourik A.; Gonzalez-Neira, Anna; Grotmol, Tom; Hamilton, Robert J.; Haugen, Trine B.; Kiemeney, Lambertus A.; Kim, Jung; Krausz, Csilla; Lessel, Davor; Lothe, Ragnhild A.; Nead, Kevin T.; Nsengimana, Jeremie; Poynter, Jenny N.; Rajpert-DeMeyts, Ewa; Richiardi, Lorenzo; Schwartz, Stephen M.; Skotheim, Rolf I.; Stewart, Douglas R.; Turnbull, Clare; Wiklund, Fredrik; Zheng, Tongzhang; Nathanson, Katherine L.; McGlynn, Katherine A. Share Save
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study Ugalde-Morales, Emilio; Wilf, Rona; Pluta, John; Ploner, Alexander; Fan, Mengyao; Damra, Mohammad; Aben, Katja K.; Anson-Cartwright, Lynn; Chen, Chu; Cortessis, Victoria K.; Daneshmand, Siamak; Ferlin, Alberto; Gamulin, Marija; Gietema, Jourik A.; Gonzalez-Niera, Anna; Grotmol, Tom; Hamilton, Robert J.; Harland, Mark; Haugen, Trine B.; Hauser, Russ; Hildebrandt, Michelle A. T.; Karlsson, Robert; Kiemeney, Lambertus A.; Kim, Jung; Lessel, Davor; Lothe, Ragnhild A.; Loveday, Chey; Chanock, Stephen J.; Mcglynn, Katherine A.; Meijer, Coby; Nead, Kevin T.; Nsengimana, Jeremie; Popovic, Maja; Rafnar, Thorunn; Richiardi, Lorenzo; Rocca, Maria S.; Schwartz, Stephen M.; Skotheim, Rolf I.; Stefansson, Kari; Stewart, Douglas R.; Turnbull, Clare; Vaughn, David J.; Winge, Sofia B.; Zheng, Tongzhang; Monteiro, Alvaro N.; Almstrup, Kristian; Kanetsky, Peter A.; Nathanson, Katherine L.; Wiklund, Fredrik Share Save
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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H. Share Save
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants Wang, Anqi; Shen, Jiayi; Rodriguez, Alex A.; Saunders, Edward J.; Chen, Fei; Janivara, Rohini; Darst, Burcu F.; Sheng, Xin; Xu, Yili; Chou, Alisha J.; Benlloch, Sara; Dadaev, Tokhir; Brook, Mark N.; Plym, Anna; Sahimi, Ali; Hoffman, Thomas J.; Takahashi, Atushi; Matsuda, Koichi; Momozawa, Yukihide; Fujita, Masashi; Laisk, Triin; Figueredo, Jessica; Muir, Kenneth; Ito, Shuji; Liu, Xiaoxi; Uchio, Yuji; Kubo, Michiaki; Kamatani, Yoichiro; Lophatananon, Artitaya; Wan, Peggy; Andrews, Caroline; Lori, Adriana; Choudhury, Parichoy P.; Schleutker, Johanna; Tammela, Teuvo L. J.; Sipeky, Csilla; Auvinen, Anssi; Giles, Graham G.; Southey, Melissa C.; MacInnis, Robert J.; Cybulski, Cezary; Wokolorczyk, Dominika; Lubinski, Jan; Rentsch, Christopher T.; Cho, Kelly; Mcmahon, Benjamin H.; Neal, David E.; Donovan, Jenny L.; Hamdy, Freddie C.; Martin, Richard M.; Nordestgaard, Borge G.; Nielsen, Sune F.; Weischer, Maren; Bojesen, Stig E.; Roder, Andreas; Stroomberg, Hein V.; Batra, Jyotsna; Chambers, Suzanne; Horvath, Lisa; Clements, Judith A.; Tilly, Wayne; Risbridger, Gail P.; Gronberg, Henrik; Aly, Markus; Szulkin, Robert; Eklund, Martin; Nordstrom, Tobias; Pashayan, Nora; Dunning, Alison M.; Ghoussaini, Maya; Travis, Ruth C.; Key, Tim J.; Riboli, Elio; Park, Jong Y.; Sellers, Thomas A.; Lin, Hui-Yi; Albanes, Demetrius; Weinstein, Stephanie; Cook, Michael B.; Mucci, Lorelei A.; Giovannucci, Edward; Lindstrom, Sara; Kraft, Peter; Hunter, David J.; Penney, Kathryn L.; Turman, Constance; Tangen, Catherine M.; Goodman, Phyllis J.; Thompson, Ian M., Jr.; Hamilton, Robert J.; Fleshner, Neil E.; Finelli, Antonio; Parent, Marie-Elise; Stanford, Janet L.; Ostrander, Elaine A.; Koutros, Stella; Freeman, Laura E. Beane; Stampfer, Meir; Wolk, Alicja; Hakansson, Niclas; Andriole, Gerald L.; Hoover, Robert N.; Machiela, Mitchell J.; Sorensen, Karina Dalsgaard; Borre, Michael; Blot, William J.; Zheng, Wei; Yeboah, Edward D.; Mensah, James E.; Lu, Yong-Jie; Zhang, Hong-Wei; Feng, Ninghan; Mao, Xueying; Wu, Yudong; Zhao, Shan-Chao; Sun, Zan; Thibodeau, Stephen N.; McDonnell, Shannon K.; Schaid, Daniel J.; West, Catharine M. L.; Barnett, Gill; Maier, Christiane; Schnoeller, Thomas; Luedeke, Manuel; Kibel, Adam S.; Drake, Bettina F.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Menegaux, Florence; Truong, Therese; Koudou, Yves Akoli; John, Esther M.; Grindedal, Eli Marie; Maehle, Lovise; Khaw, Kay-Tee; Ingles, Sue A.; Stern, Mariana C.; Vega, Ana; Gomez-Caamano, Antonio; Fachal, Laura; Rosenstein, Barry S.; Kerns, Sarah L.; Ostrer, Harry; Teixeira, Manuel R.; Paulo, Paula; Brandao, Andreia; Watya, Stephen; Lubwama, Alexander; Bensen, Jeannette T.; Butler, Ebonee N.; Mohler, James L.; Taylor, Jack A.; Kogevinas, Manolis; Dierssen-Sotos, Trinidad; Castano-Vinyals, Gemma; Cannon-Albright, Lisa; Teerlink, Craig C.; Huff, Chad D.; Pilie, Patrick; Yu, Yao; Bohlender, Ryan J.; Gu, Jian; Strom, Sara S.; Multigner, Luc; Blanchet, Pascal; Brureau, Laurent; Kaneva, Radka; Slavov, Chavdar; Mitev, Vanio; Leach, Robin J.; Brenner, Hermann; Chen, Xuechen; Holleczek, Bernd; Schoettker, Ben; Klein, Eric A.; Hsing, Ann W.; Kittles, Rick A.; Murphy, Adam B.; Logothetis, Christopher J.; Kim, Jeri; Neuhausen, Susan L.; Steele, Linda; Ding, Yuan Chun; Isaacs, William B.; Nemesure, Barbara; Hennis, Anselm J. M.; Carpten, John; Pandha, Hardev; Michael, Agnieszka; De Ruyck, Kim; De Meerleer, Gert; Ost, Piet; Xu, Jianfeng; Razack, Azad; Lim, Jasmine; Teo, Soo-Hwang; Newcomb, Lisa F.; Lin, Daniel W.; Fowke, Jay H.; Neslund-Dudas, Christine M.; Rybicki, Benjamin A.; Gamulin, Marija; Lessel, Davor; Kulis, Tomislav; Usmani, Nawaid; Abraham, Aswin; Singhal, Sandeep; Parliament, Matthew; Claessens, Frank; Joniau, Steven; Van den Broeck, Thomas; Gago-Dominguez, Manuela; Castelao, Jose Esteban; Martinez, Maria Elena; Larkin, Samantha; Townsend, Paul A.; Aukim-Hastie, Claire; Bush, William S.; Aldrich, Melinda C.; Crawford, Dana C.; Srivastava, Shiv; Cullen, Jennifer; Petrovics, Gyorgy; Casey, Graham; Wang, Ying; Tettey, Yao; Lachance, Joseph; Tang, Wei; Biritwum, Richard B.; Adjei, Andrew A.; Tay, Evelyn; Truelove, Ann; Niwa, Shelley; Yamoah, Kosj; Govindasami, Koveela; Chokkalingam, Anand P.; Keaton, Jacob M.; Hellwege, Jacklyn N.; Clark, Peter E.; Jalloh, Mohamed; Gueye, Serigne M.; Niang, Lamine; Ogunbiyi, Olufemi; Shittu, Olayiwola; Amodu, Olukemi; Adebiyi, Akindele O.; Aisuodionoe-Shadrach, Oseremen I.; Ajibola, Hafees O.; Jamda, Mustapha A.; Oluwole, Olabode P.; Nwegbu, Maxwell; Adusei, Ben; Mante, Sunny; Darkwa-Abrahams, Afua; Diop, Halimatou; Gundell, Susan M.; Roobol, Monique J.; Jenster, Guido; van Schaik, Ron H. N.; Hu, Jennifer J.; Sanderson, Maureen; Kachuri, Linda; Varma, Rohit; McKean-Cowdin, Roberta; Torres, Mina; Preuss, Michael H.; Loos, Ruth J. F.; Zawistowski, Matthew; Zollner, Sebastian; Lu, Zeyun; Van Den Eeden, Stephen K.; Easton, Douglas F.; Ambs, Stefan; Edwards, Todd L.; Magi, Reedik; Rebbeck, Timothy R.; Fritsche, Lars; Chanock, Stephen J.; Berndt, Sonja I.; Wiklund, Fredrik; Nakagawa, Hidewaki; Witte, John S.; Gaziano, J. Michael; Justice, Amy C.; Mancuso, Nick; Terao, Chikashi; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Madduri, Ravi K.; Conti, David V.; Haiman, Christopher A. Share Save
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia Terhal, Paulien; Venhuizen, Anton J.; Lessel, Davor; Tan, Wen-Hann; Alswaid, Abdulrahman; Gruen, Regina; Alzaidan, Hamad I.; von Kroge, Simon; Ragab, Nada; Hempel, Maja; Kubisch, Christian; Novais, Eduardo; Cristobal, Alba; Tripolszki, Kornelia; Bauer, Peter; Fischer-Zirnsak, Bjorn; Nievelstein, Rutger A. J.; van Dijk, Atty; Nikkels, Peter; Oheim, Ralf; Hahn, Heidi; Bertoli-Avella, Aida; Maurice, Madelon M.; Kornak, Uwe Share Save
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, T.; Bhoj, E. J.; Bryant, L.; Vanderver, A. Share Save
Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk Grasso, Chiara; Popovic, Maja; Isaevska, Elena; Lazzarato, Fulvio; Fiano, Valentina; Zugna, Daniela; Pluta, John; Weathers, Benita; D'Andrea, Kurt; Almstrup, Kristian; Anson-Cartwright, Lynn; Bishop, D. Timothy; Chanock, Stephen J.; Chen, Chu; Cortessis, Victoria K.; Dalgaard, Marlene D.; Daneshmand, Siamak; Ferlin, Alberto; Foresta, Carlo; Frone, Megan N.; Gamulin, Marija; Gietema, Jourik A.; Greene, Mark H.; Grotmol, Tom; Hamilton, Robert J.; Haugen, Trine B.; Hauser, Russ; Karlsson, Robert; Kiemeney, Lambertus A.; Lessel, Davor; Lista, Patrizia; Lothe, Ragnhild A.; Loveday, Chey; Meijer, Coby; Nead, Kevin T.; Nsengimana, Jeremie; Skotheim, Rolf I.; Turnbull, Clare; Vaughn, David J.; Wiklund, Fredrik; Zheng, Tongzhang; Zitella, Andrea; Schwartz, Stephen M.; McGlynn, Katherine A.; Kanetsky, Peter A.; Nathanson, Katherine L.; Richiardi, Lorenzo Share Save
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies Reuter, Miriam S.; Zech, Michael; Hempel, Maja; Altmueller, Janine; Heung, Tracy; Poelsler, Laura; Santer, Rene; Thiele, Holger; Trost, Brett; Kubisch, Christian; Scherer, Stephen W.; Rudnik-Schoneborn, Sabine; Bassett, Anne S.; Lessel, Davor Share Save
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy Dahimene, Shehrazade; von Elsner, Leonie; Holling, Tess; Mattas, Lauren S.; Pickard, Jess; Lessel, Davor; Pilch, Kjara S.; Kadurin, Ivan; Pratt, Wendy S.; Zhulin, Igor B.; Dai, Hongzheng; Hempel, Maja; Ruzhnikov, Maura R. Z.; Kutsche, Kerstin; Dolphin, Annette C. Share Save
Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation Merkens, Lina; Sailer, Verena; Lessel, Davor; Janzen, Ella; Greimeier, Sarah; Kirfel, Jutta; Perner, Sven; Pantel, Klaus; Werner, Stefan; von Amsberg, Gunhild Share Save
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Loebel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M.; Lessel, Davor Share Save
Identification of 22 susceptibility loci associated with testicular germ cell tumors Pluta, John; Pyle, Louise C.; Nead, Kevin T.; Wilf, Rona; Li, Mingyao; Mitra, Nandita; Weathers, Benita; D'Andrea, Kurt; Almstrup, Kristian; Anson-Cartwright, Lynn; Benitez, Javier; Brown, Christopher D.; Chanock, Stephen; Chen, Chu; Cortessis, Victoria K.; Ferlin, Alberto; Foresta, Carlo; Gamulin, Marija; Gietema, Jourik A.; Grasso, Chiara; Greene, Mark H.; Grotmol, Tom; Hamilton, Robert J.; Haugen, Trine B.; Hauser, Russ; Hildebrandt, Michelle A. T.; Johnson, Matthew E.; Karlsson, Robert; Kiemeney, Lambertus A.; Lessel, Davor; Lothe, Ragnhild A.; Loud, Jennifer T.; Loveday, Chey; Martin-Gimeno, Paloma; Meijer, Coby; Nsengimana, Jeremie; Quinn, David I.; Rafnar, Thorunn; Ramdas, Shweta; Richiardi, Lorenzo; Skotheim, Rolf I.; Stefansson, Kari; Turnbull, Clare; Vaughn, David J.; Wiklund, Fredrik; Wu, Xifeng; Yang, Daphne; Zheng, Tongzhang; Wells, Andrew D.; Grant, Struan F. A.; Rajpert-De Meyts, Ewa; Schwartz, Stephen M.; Bishop, D. Timothy; McGlynn, Katherine A.; Kanetsky, Peter A.; Nathanson, Katherine L. Share Save