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Journal Article
Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Scherer, Stephen W.
ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor
ORCID: 0000-0003-4496-244X
(2022).
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Eur. J. Hum. Genet., 30 (5).
S. 611 - 619.
LONDON:
SPRINGERNATURE.
ISSN 1476-5438
Anttila, Verneri ORCID: 0000-0002-0073-4675, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie
ORCID: 0000-0003-1131-661X, Escott-Price, Valentina
ORCID: 0000-0003-1784-5483, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer
ORCID: 0000-0001-9212-2520, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi
ORCID: 0000-0001-6059-4267, Yu, Dongmei
ORCID: 0000-0001-7901-4365, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe
ORCID: 0000-0001-9088-234X, Boland, Anne, Deleuze, Jean-Francois, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M., Huentelman, Matthew J., Kamboh, M. Ilyas, Larson, Eric B., Rogaeva, Ekaterina, St George-Hyslop, Peter
ORCID: 0000-0003-0796-7209, Hakonarson, Hakon, Kukull, Walter A., Farrer, Lindsay A., Barnes, Lisa L., Beach, Thomas G., Demirci, F. Yesim
ORCID: 0000-0001-6907-9843, Head, Elizabeth, Hulette, Christine M., Jicha, Gregory A., Kauwe, John S. K., Kaye, Jeffrey A., Leverenz, James B., Levey, Allan I., Lieberman, Andrew P., Pankratz, Vernon S., Poon, Wayne W., Quinn, Joseph F., Saykin, Andrew J., Schneider, Lon S., Smith, Amanda G., Sonnen, Joshua A., Stern, Robert A., Van Deerlin, Vivianna M., Van Eldik, Linda J., Harold, Denise
ORCID: 0000-0001-5195-0143, Russo, Giancarlo, Rubinsztein, David C., Bayer, Anthony, Tsolaki, Magda
ORCID: 0000-0002-2072-8010, Proitsi, Petra, Fox, Nick C., Hampel, Harald, Owen, Michael J., Mead, Simon, Passmore, Peter, Morgan, Kevin
ORCID: 0000-0002-8217-2396, Noethen, Markus M., Rossor, Martin
ORCID: 0000-0001-8215-3120, Lupton, Michelle K., Hoffmann, Per, Kornhuber, Johannes
ORCID: 0000-0002-8096-3987, Lawlor, Brian, McQuillin, Andrew
ORCID: 0000-0003-1567-2240, Al-Chalabi, Ammar, Bis, Joshua C., Ruiz, Agustin, Boada, Merce, Seshadri, Sudha
ORCID: 0000-0001-6135-2622, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J., De Jager, Philip L., Geschwind, Daniel H., Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I., Ransmayr, Gerhard, Hyman, Bradley T., Cruchaga, Carlos, Alegret, Montserrat
ORCID: 0000-0002-8164-9500, Winsvold, Bendik, Palta, Priit
ORCID: 0000-0001-9320-7008, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias
ORCID: 0000-0001-7169-2620, Ligthart, Lannie
ORCID: 0000-0002-6570-3319, Terwindt, Gisela M., Freilinger, Tobias, Ran, Caroline
ORCID: 0000-0003-0239-9871, Gordon, Scott D., Borck, Guntram, Adams, Hieab H. H., Lehtimaki, Terho, Wedenoja, Juho
ORCID: 0000-0002-6155-0378, Buring, Julie E., Schuerks, Markus, Hrafnsdottir, Maria, Hottenga, Jouke-Jan, Penninx, Brenda, Artto, Ville, Kaunisto, Mari
ORCID: 0000-0002-6946-9195, Vepsalainen, Salli, Martin, Nicholas G., Montgomery, Grant W., Kurki, Mitja I., Hamalainen, Eija, Huang, Hailiang, Huang, Jie, Sandor, Cynthia, Webber, Caleb
ORCID: 0000-0001-8063-7674, Muller-Myhsok, Bertram, Schreiber, Stefan, Salomaa, Veikko, Loehrer, Elizabeth
ORCID: 0000-0003-1249-4442, Goebel, Hartmut, Macaya, Alfons, Pozo-Rosich, Patricia, Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko
ORCID: 0000-0002-3716-2455, Metspalu, Andres, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Ferrari, Michel D., Belin, Andrea C., van den Maagdenberg, Arn M. J. M., Zwart, John-Anker, Boomsma, Dorret, Eriksson, Nicholas, Olesen, Jes, Chasman, Daniel I., Nyholt, Dale R., Avbersek, Andreja, Baum, Larry, Berkovic, Samuel, Bradfield, Jonathan, Buono, Russell, Catarino, Claudia B., Cossette, Patrick, De Jonghe, Peter, Depondt, Chantal, Dlugos, Dennis, Ferraro, Thomas N., French, Jacqueline, Hjalgrim, Helle, Jamnadas-Khoda, Jennifer
ORCID: 0000-0002-3372-4924, Kalviainen, Reetta, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Lerche, Holger, Leu, Costin
ORCID: 0000-0003-0598-3301, Lindhout, Dick, Lo, Warren, Lowenstein, Daniel, McCormack, Mark, Moller, Rikke S., Molloy, Anne, Ng, Ping-Wing, Oliver, Karen, Privitera, Michael, Radtke, Rodney, Ruppert, Ann-Kathrin, Sander, Thomas, Schachter, Steven, Schankin, Christoph, Scheffer, Ingrid, Schoch, Susanne, Sisodiya, Sanjay M., Smith, Philip, Sperling, Michael, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Surges, Rainer, Thomas, G. Neil
ORCID: 0000-0002-2777-1847, Visscher, Frank, Whelan, Christopher D., Zara, Federico, Heinzen, Erin L., Marson, Anthony
ORCID: 0000-0002-6861-8806, Becker, Felicitas, Stroink, Hans, Zimprich, Fritz
ORCID: 0000-0002-6998-5480, Gasser, Thomas, Gibbs, Raphael, Heutink, Peter
ORCID: 0000-0001-5218-1737, Martinez, Maria
ORCID: 0000-0003-2180-4537, Morris, Huw R., Sharma, Manu, Ryten, Mina, Mok, Kin Y., Pulit, Sara
ORCID: 0000-0002-2502-3669, Bevan, Steve, Holliday, Elizabeth, Attia, John, Battey, Thomas, Boncoraglio, Giorgio, Thijs, Vincent
ORCID: 0000-0002-6614-8417, Chen, Wei-Min, Mitchell, Braxton, Rothwell, Peter, Sharma, Pankaj, Sudlow, Cathie
ORCID: 0000-0002-7725-7520, Vicente, Astrid
ORCID: 0000-0001-7134-8037, Markus, Hugh, Kourkoulis, Christina, Pera, Joana, Raffeld, Miriam, Silliman, Scott, Perica, Vesna Boraska, Thornton, Laura M., Huckins, Laura M., Rayner, N. William, Lewis, Cathryn M., Gratacos, Monica, Rybakowski, Filip
ORCID: 0000-0001-5503-3019, Keski-Rahkonen, Anna
ORCID: 0000-0002-6713-7488, Raevuori, Anu
ORCID: 0000-0001-7704-9441, Hudson, James I., Reichborn-Kjennerud, Ted, Monteleone, Palmiero, Karwautz, Andreas, Mannik, Katrin, Baker, Jessica H., O'Toole, Julie K., Trace, Sara E., Davis, Oliver S. P., Helder, Sietske G., Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Danner, Unna N., van Elburg, Annemarie A., Clementi, Maurizio, Forzan, Monica
ORCID: 0000-0003-2653-7300, Docampo, Elisa, Lissowska, Jolanta
ORCID: 0000-0003-2695-5799, Hauser, Joanna, Tortorella, Alfonso, Maj, Mario, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Yilmaz, Zeynep, Wagner, Gudrun, Cohen-Woods, Sarah
ORCID: 0000-0003-2199-6129, Herms, Stefan
ORCID: 0000-0002-2786-8200, Julia, Antonio, Rabionet, Raquel
ORCID: 0000-0001-5006-8140, Dick, Danielle M., Ripatti, Samuli, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J., Steen, Vidar M., Pinto, Dalila
ORCID: 0000-0002-8769-0846, Scherer, Stephen W., Aschauer, Harald
ORCID: 0000-0002-4449-372X, Schosser, Alexandra, Alfredsson, Lars
ORCID: 0000-0003-1688-6697, Padyukov, Leonid, Halmi, Katherine A., Mitchell, James, Strober, Michael, Bergen, Andrew W., Kaye, Walter, Szatkiewicz, Jin Peng, Cormand, Bru
ORCID: 0000-0001-5318-4382, Antoni Ramos-Quiroga, Josep, Sanchez-Mora, Cristina
ORCID: 0000-0003-4211-1107, Ribases, Marta
ORCID: 0000-0003-1039-1116, Casas, Miguel, Hervas, Amaia, Jesus Arranz, Maria, Haavik, Jan, Zayats, Tetyana, Johansson, Stefan
ORCID: 0000-0002-2298-7008, Williams, Nigel, Dempfle, Astrid
ORCID: 0000-0002-2618-3920, Rothenberger, Aribert, Kuntsi, Jonna
ORCID: 0000-0002-0113-8162, Oades, Robert D., Banaschewski, Tobias, Franke, Barbara
ORCID: 0000-0003-4375-6572, Buitelaar, Jan K., Arias Vasquez, Alejandro, Doyle, Alysa E., Reif, Andreas, Lesch, Klaus-Peter
ORCID: 0000-0001-8348-153X, Freitag, Christine, Rivero, Olga
ORCID: 0000-0002-2664-4053, Palmason, Haukur, Romanos, Marcel
ORCID: 0000-0001-7628-8299, Langley, Kate, Rietschel, Marcella, Witt, Stephanie H., Dalsgaard, Soeren, Borglum, Anders D., Waldman, Irwin, Wilmot, Beth, Molly, Nikolas, Bau, Claiton H. D., Crosbie, Jennifer, Schachar, Russell, K., Sandra, McGough, James J., Grevet, Eugenio H., Medland, Sarah E., Robinson, Elise, Weiss, Lauren A., Bacchelli, Elena, Bailey, Anthony, Bal, Vanessa, Battaglia, Agatino
ORCID: 0000-0002-7128-7606, Betancur, Catalina
ORCID: 0000-0002-3327-4804, Bolton, Patrick, Cantor, Rita, Celestino-Soper, Patricia, Dawson, Geraldine, De Rubeis, Silvia
ORCID: 0000-0001-9383-6883, Duque, Frederico
ORCID: 0000-0001-5684-1472, Green, Andrew, Klauck, Sabine M., Leboyer, Marion, Levitt, Pat, Maestrini, Elena, Mane, Shrikant, Moreno-De-Luca, Daniel, Parr, Jeremy, Regan, Regina, Reichenberg, Abraham, Sandin, Sven
ORCID: 0000-0001-6994-4884, Vorstman, Jacob, Wassink, Thomas
ORCID: 0000-0002-0952-8333, Wijsman, Ellen, Cook, Edwin, Santangelo, Susan, Delorme, Richard
ORCID: 0000-0002-5614-3663, Roge, Bernadette, Magalhaes, Tiago, Arking, Dan, Schulze, Thomas G., Thompson, Robert C., Strohmaier, Jana, Matthews, Keith, Melle, Ingrid, Morris, Derek, Blackwood, Douglas, McIntosh, Andrew, Bergen, Sarah E., Schalling, Martin, Jamain, Stephane
ORCID: 0000-0002-4321-4100, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Fullerton, Janice M., Guzman-Parra, Jose
ORCID: 0000-0002-1463-6435, Mayoral, Fermin, Schofield, Peter R., Cichon, Sven, Muhleisen, Thomas W., Degenhardt, Franziska, Schumacher, Johannes, Bauer, Michael, Mitchell, Philip B., Gershon, Elliot S., Rice, John, Potash, James B., Zandi, Peter P., Craddock, Nick, Ferrier, I. Nicol, Alda, Martin
ORCID: 0000-0001-9544-3944, Rouleau, Guy A., Turecki, Gustavo
ORCID: 0000-0003-4075-2736, Ophoff, Roel, Pato, Carlos, Anjorin, Adebayo, Stahl, Eli, Leber, Markus, Czerski, Piotr M., Cruceanu, Cristiana, Jones, Ian R., Posthuma, Danielle, Andlauer, Till F. M., Forstner, Andreas J., Streit, Fabian, Baune, Bernhard T., Air, Tracy, Sinnamon, Grant, Wray, Naomi R., MacIntyre, Donald J., Porteous, David, Homuth, Georg, Rivera, Margarita
ORCID: 0000-0003-4717-1045, Grove, Jakob
ORCID: 0000-0003-2284-5744, Middeldorp, Christel M., Hickie, Ian, Pergadia, Michele, Mehta, Divya, Smit, Johannes H., Jansen, Rick
ORCID: 0000-0002-3333-6737, de Geus, Eco, Dunn, Erin, Li, Qingqin S., Nauck, Matthias, Schoevers, Robert A., Beekman, Aartjan T. F., Knowles, James A., Viktorin, Alexander
ORCID: 0000-0003-2141-2816, Arnold, Paul, Barr, Cathy L., Bedoya-Berrio, Gabriel, Bienvenu, O. Joseph, Brentani, Helena
ORCID: 0000-0001-5192-4682, Burton, Christie
ORCID: 0000-0002-8955-6528, Camarena, Beatriz
ORCID: 0000-0001-7737-501X, Cappi, Carolina, Cath, Danielle, Cavallini, Maria, Cusi, Daniele, Darrow, Sabrina, Denys, Damiaan, Derks, Eske M., Dietrich, Andrea, Fernandez, Thomas, Figee, Martijn
ORCID: 0000-0003-3679-284X, Freimer, Nelson, Gerber, Gloria, Grados, Marco
ORCID: 0000-0002-6189-6264, Greenberg, Erica, Hanna, Gregory L., Hartmann, Andreas, Hirschtritt, Matthew E., Hoekstra, Pieter J., Huang, Alden, Huyser, Chaim
ORCID: 0000-0001-8757-3124, Illmann, Cornelia, Jenike, Michael, Kuperman, Samuel
ORCID: 0000-0002-5995-1981, Leventhal, Bennett, Lochner, Christine, Lyon, Gholson J., Macciardi, Fabio, Madruga-Garrido, Marcos, Malaty, Irene A., Maras, Athanasios, McGrath, Lauren, Miguel, Euripedes C., Mir, Pablo
ORCID: 0000-0003-1656-302X, Nestadt, Gerald, Nicolini, Humberto, Okun, Michael S., Pakstis, Andrew, Paschou, Peristera, Piacentini, John, Pittenger, Christopher, Plessen, Kerstin, Ramensky, Vasily, Ramos, Eliana M., Reus, Victor, Richter, Margaret A., Riddle, Mark A., Robertson, Mary M., Roessner, Veit, Rosario, Maria, Samuels, Jack F., Sandor, Paul
ORCID: 0000-0003-2397-0758, Stein, Dan J., Tsetsos, Fotis, Van Nieuwerburgh, Filip
ORCID: 0000-0001-8815-5485, Weatherall, Sarah, Wendland, Jens R., Wolanczyk, Tomasz, Worbe, Yulia
ORCID: 0000-0001-5903-9370, Zai, Gwyneth, Goes, Fernando S., McLaughlin, Nicole, Nestadt, Paul S., Grabe, Hans-Jorgen, Depienne, Christel, Konkashbaev, Anuar, Lanzagorta, Nuria
ORCID: 0000-0001-6769-6813, Valencia-Duarte, Ana, Bramon, Elvira
ORCID: 0000-0003-1369-5983, Buccola, Nancy, Cahn, Wiepke, Cairns, Murray
ORCID: 0000-0003-2490-2538, Chong, Siow A., Cohen, David, Crespo-Facorro, Benedicto, Crowley, James, Davidson, Michael, DeLisi, Lynn, Dinan, Timothy, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Haan, Lieuwe, Hougaard, David, Karachanak-Yankova, Sena, Khrunin, Andrey, Klovins, Janis, Kucinskas, Vaidutis, Keong, Jimmy Lee Chee, Limborska, Svetlana
ORCID: 0000-0002-1697-6820, Loughland, Carmel, Lonnqvist, Jouko, Maher, Brion, Mattheisen, Manuel
ORCID: 0000-0002-8442-493X, McDonald, Colm
ORCID: 0000-0003-1661-5192, Murphy, Kieran C., Nenadic, Igor, van Os, Jim
ORCID: 0000-0002-7245-1586, Pantelis, Christos
ORCID: 0000-0002-9565-0238, Pato, Michele, Petryshen, Tracey
ORCID: 0000-0002-7972-4612, Quested, Digby
ORCID: 0000-0001-6155-3336, Roussos, Panos, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Sim, Kang
ORCID: 0000-0003-3209-9626, So, Hon-Cheong
ORCID: 0000-0002-7102-833X, Stoegmann, Elisabeth, Subramaniam, Mythily, Toncheva, Draga, Waddington, John, Walters, James
ORCID: 0000-0002-6980-4053, Weiser, Mark, Cheng, Wei, Cloninger, Robert, Curtis, David, Gejman, Pablo V., Henskens, Frans, Mattingsdal, Morten
ORCID: 0000-0003-4440-0324, Oh, Sang-Yun, Scott, Rodney, Webb, Bradley, Breen, Gerome, Churchhouse, Claire, Bulik, Cynthia M., Daly, Mark, Dichgans, Martin, Faraone, Stephen V., Guerreiro, Rita
ORCID: 0000-0001-5879-3486, Holmans, Peter, Kendler, Kenneth S., Koeleman, Bobby, Mathews, Carol A., Price, Alkes, Scharf, Jeremiah, Sklar, Pamela, Williams, Julie
ORCID: 0000-0002-4069-0259, Wood, Nicholas W., Cotsapas, Chris
ORCID: 0000-0002-7772-5910, Palotie, Aarno, Smoller, Jordan W., Sullivan, Patrick, Rosand, Jonathan, Corvin, Aiden and Neale, Benjamin M.
(2018).
Analysis of shared heritability in common disorders of the brain.
Science, 360 (6395).
S. 1313 - 1326.
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 1095-9203
Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph
ORCID: 0000-0002-7247-282X, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric
(2018).
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res., 20.
LONDON:
BMC.
ISSN 1465-5411
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
Woeckel, Achim, Festl, Jasmin, Stueber, Tanja, Brust, Katharina, Stangl, Stephanie ORCID: 0000-0002-5177-8635, Heuschmann, Peter U., Albert, Ute-Susann, Budach, Wilfried, Follmann, Markus
ORCID: 0000-0003-3790-5578, Janni, Wolfgang, Kopp, Ina, Kreienberg, Rolf, Kuehn, Thorsten, Langer, Thomas, Nothacker, Monika, Scharl, Anton, Schreer, Ingrid, Link, Hartmut, Engel, Jutta, Fehm, Tanja, Weis, Joachim, Welt, Anja, Steckelberg, Anke, Feyer, Petra, Koenig, Klaus, Hahne, Andrea, Kreipe, Hans H., Knoefel, Wolfram Trudo, Denkinger, Michael
ORCID: 0000-0002-8097-060X, Brucker, Sara, Lueftner, Diana, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Gerlach, Christina, Lebeau, Annette, Siedentopf, Friederike, Petersen, Cordula, Bartsch, Hans Helge, Schulz-Wendtland, Ruediger, Hahn, Markus, Hanf, Volker, Mueller-Schimpfle, Markus, Henscher, Ulla, Roncarati, Renza, Katalinic, Alexander
ORCID: 0000-0003-0490-1554, Heitmann, Christoph, Honegger, Christoph, Paradies, Kerstin, Bjelic-Radisic, Vesna, Degenhardt, Friedrich, Wenz, Frederik, Rick, Oliver, Hoelzel, Dieter, Zaiss, Matthias, Kemper, Gudrun, Budach, Volker, Denkert, Carsten, Gerber, Bernd, Tesch, Hans, Hirsmueller, Susanne, Sinn, Hans-Peter
ORCID: 0000-0003-2836-6699, Dunst, Juergen, Muenstedt, Karsten, Bick, Ulrich, Fallenberg, Eva, Tholen, Reina, Hung, Roswita, Baumann, Freerk, Beckman, Matthias W., Blohmer, Jens, Fasching, Peter A., Lux, Michael P., Harbeck, Nadia, Hadji, Peyman, Hauner, Hans, Heywang-Koebrunner, Sylvia, Huober, Jens, Huebner, Jutta, Jackisch, Christian, Loibl, Sibylle, Lueck, Hans-Juergen, von Minckwitz, Gunter, Moebus, Volker, Mueller, Volkmar, Noethlings, Ute, Schmidt, Marcus
ORCID: 0000-0003-1365-2414, Schmutzler, Rita, Schneeweiss, Andreas, Schuetz, Florian, Stickeler, Elmar, Thomssen, Christoph, Untch, Michael, Wesselmann, Simone, Buecker, Arno and Krockenberger, Mathias
(2018).
Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Cancer.
Geburtshilfe Frauenheilkd., 78 (10).
S. 927 - 948.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1438-8804
Woeckel, Achim, Festl, Jasmin, Stueber, Tanja, Brust, Katharina, Krockenberger, Mathias, Heuschmann, Peter U., Jiru-Hillmann, Steffi, Albert, Ute-Susann, Budach, Wilfried, Follmann, Markus ORCID: 0000-0003-3790-5578, Janni, Wolfgang, Kopp, Ina, Kreienberg, Rolf, Kuehn, Thorsten, Langer, Thomas, Nothacker, Monika, Scharl, Anton, Schreer, Ingrid, Link, Hartmut, Engel, Jutta, Fehm, Tanja, Weis, Joachim, Welt, Anja, Steckelberg, Anke, Feyer, Petra, Koenig, Klaus, Hahne, Andrea, Baumgartner, Traudl, Kreipe, Hans H., Knoefel, Wolfram Trudo, Denkinger, Michael
ORCID: 0000-0002-8097-060X, Brucker, Sara, Lueftner, Diana, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Gerlach, Christina, Lebeau, Annette, Siedentopf, Friederike, Petersen, Cordula, Bartsch, Hans Helge, Schulz-Wendtland, Rudiger, Hahn, Markus, Hanf, Volker, Mueller-Schimpfle, Markus, Henscher, Ulla, Roncarati, Renza, Katalinic, Alexander
ORCID: 0000-0003-0490-1554, Heitmann, Christoph, Honegger, Christoph, Paradies, Kerstin, Bjelic-Radisic, Vesna, Degenhardt, Friedrich, Wenz, Frederik, Rick, Oliver, Hoelzel, Dieter, Zaiss, Matthias, Kemper, Gudrun, Budach, Volker, Denkert, Carsten, Gerber, Bernd, Tesch, Hans, Hirsmueller, Susanne, Sinn, Hans-Peter
ORCID: 0000-0003-2836-6699, Dunst, Juergen, Muenstedt, Karsten, Bick, Ulrich, Fallenberg, Eva, Tholen, Reina, Hung, Roswita, Baumann, Freerk, Beckmann, MatthiasW., Blohmer, Jens, Fasching, Peter, Lux, Michael P., Harbeck, Nadia, Hadji, Peyman, Hauner, Hans, Heywang-Koebrunner, Sylvia, Huober, Jens, Huebner, Jutta, Jackisch, Christian, Loibl, Sibylle, Lueck, Hans-Juergen, von Minckwitz, Gunter, Moebus, Volker, Mueller, Volkmar, Noethlings, Ute, Schmidt, Marcus
ORCID: 0000-0003-1365-2414, Schmutzler, Rita, Schneeweiss, Andreas, Schuetz, Florian, Stickeler, Elmar, Thomssen, Christoph, Untch, Michael, Wesselmann, Simone, Buecker, Arno, Buck, Andreas and Stangl, Stephanie
ORCID: 0000-0002-5177-8635
(2018).
Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer.
Geburtshilfe Frauenheilkd., 78 (11).
S. 1056 - 1089.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1438-8804
Lang-Roth, Ruth, Fischer-Krall, Eva, Kornblum, Cornelia, Nuernberg, Gudrun, Meschede, Dieter, Goebel, Ingrid, Nuernberg, Peter, Beutner, Dirk, Kubisch, Christian ORCID: 0000-0003-4220-0978, Walger, Martin and Volk, Alexander E.
(2017).
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
Audiol. Neuro-Otol., 22 (1).
S. 30 - 41.
BASEL:
KARGER.
ISSN 1421-9700
Lessel, Davor ORCID: 0000-0003-4496-244X, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas
ORCID: 0000-0003-4681-7844, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M.
ORCID: 0000-0001-7772-7855, Rading, Katrin, Goebel, Ingrid, Schuetz, Petra, Speit, Guenter, Hoegel, Josef, Thiele, Holger, Nuernberg, Gudrun, Nuernberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2017).
Dysfunction of the MDM2/p53 axis is linked to premature aging.
J. Clin. Invest., 127 (10).
S. 3598 - 3609.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nuernberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmueller, Janine, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Heller, Raoul
(2017).
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum. Mol. Genet., 26 (20).
S. 4055 - 4067.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
van Doormaal, Perry T. C., Ticozzi, Nicola ORCID: 0000-0001-5963-7426, Weishaupt, Jochen H., Kenna, Kevin, Diekstra, Frank P., Verde, Federico
ORCID: 0000-0002-3977-6995, Andersen, Peter M., Dekker, Annelot M., Tiloca, Cinzia, Marroquin, Nicolai, Overste, Daniel J., Pensato, Viviana
ORCID: 0000-0001-9798-2669, Nuernberg, Peter, Pulit, Sara L., Schellevis, Raymond D., Calini, Daniela, Altmueller, Janine, Francioli, Laurent C., Muller, Bernard, Castellotti, Barbara, Motameny, Susanne, Ratti, Antonia, Wolf, Joachim, Gellera, Cinzia, Ludolph, Albert C., van den Berg, Leonard H., Kubisch, Christian
ORCID: 0000-0003-4220-0978, Landers, John E., Veldink, Jan H., Silani, Vincenzo and Volk, Alexander E.
(2017).
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum. Mutat., 38 (11).
S. 1534 - 1542.
HOBOKEN:
WILEY.
ISSN 1098-1004
Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G.
ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram
(2016).
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res., 26 (2).
S. 183 - 192.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Daud, Shakeela, Kakar, Naseebullah, Goebel, Ingrid, Hashmi, Abu Saeed, Yaqub, Tahir ORCID: 0000-0001-8698-3818, Nuernberg, Gudrun, Nuernberg, Peter, Morris-Rosendahl, Deborah J., Wasim, Muhammad, Volk, Alexander E., Kubisch, Christian
ORCID: 0000-0003-4220-0978, Ahmad, Jainil and Borck, Guntram
(2016).
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Amyotroph. Lateral Scher. Frontotemp. Degenerat., 17 (3-4).
S. 260 - 266.
ABINGDON:
TAYLOR & FRANCIS LTD.
ISSN 2167-9223
Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno
ORCID: 0000-0002-5031-1013, Katsanis, Nicholas
ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2015).
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res., 25 (2).
S. 155 - 167.
COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Huebers, Annemarie, Just, Walter, Rosenbohm, Angela, Mueller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Hoegel, Josef, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Weishaupt, Jochen H., Kubisch, Christian ORCID: 0000-0003-4220-0978, Ludolph, Albert C. and Volk, Alexander E.
(2015).
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Neurobiol. Aging, 36 (11).
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1558-1497
Kuechler, Alma, Altmueller, Janine, Nuernberg, Peter, Kotthoff, Stefan, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Borck, Guntram
(2015).
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Mol. Cell. Probes, 29 (5).
S. 330 - 335.
LONDON:
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD.
ISSN 0890-8508
Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram
(2015).
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Hum. Genet., 134 (1).
S. 45 - 52.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Lessel, Davor ORCID: 0000-0003-4496-244X, Saha, Bidisha, Hisama, Fuki, Kaymakamzade, Bahar, Nurlu, Gulay, Gursoy-Oezdemir, Yasemin, Thiele, Holger, Nuernberg, Peter, Martin, George M., Kubisch, Christian
ORCID: 0000-0003-4220-0978 and Oshima, Junko
(2014).
Atypical Aicardi-Goutieres Syndrome: Is the WRN Locus a Modifier?
Am. J. Med. Genet. A, 164 (10).
S. 2510 - 2514.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
Ng, Joanne ORCID: 0000-0002-7946-9965, Zhen, Juan
ORCID: 0000-0002-6111-9692, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Rider, Nicholas L., Morton, D. Holmes, Strauss, Kevin A., Puffenberger, Erik G., D'Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo
ORCID: 0000-0002-2314-6139, Borck, Guntram, Reith, Maarten E. A. and Kurian, Manju A.
(2014).
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Brain, 137.
S. 1107 - 1120.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian
ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina
(2014).
Homozygous truncating PTPRF mutation causes athelia.
Hum. Genet., 133 (8).
S. 1041 - 1048.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Lessel, Davor ORCID: 0000-0003-4496-244X, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J., Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie
ORCID: 0000-0003-2714-965X, Sim, Joe C. H., Smith, Katherine R., Oehler, Judith, Cabrera, Elisa, Freire, Raimundo
ORCID: 0000-0003-4473-8894, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J., Delatycki, Martin B., Barbi, Gotthold, von Ameln, Simon
ORCID: 0000-0002-2242-3165, Hoegel, Josef, Degoricija, Marina
ORCID: 0000-0001-7023-9381, Fertig, Regina, Burkhalter, Martin D., Hofmann, Kay
ORCID: 0000-0002-2289-9083, Thiele, Holger, Altmueller, Janine, Nuernberg, Gudrun, Nuernberg, Peter, Bahlo, Melanie
ORCID: 0000-0001-5132-0774, Martin, George M., Aalfs, Cora M., Oshima, Junko, Terzic, Janos, Amor, David J., Dikic, Ivan
ORCID: 0000-0001-8156-9511, Ramadan, Kristijan and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2014).
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Nature Genet., 46 (11).
S. 1239 - 1245.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miguel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta ORCID: 0000-0003-0652-2988, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nuernberg, Peter, Gothelf, Doron, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Shohat, Mordechai, Macaya, Alfons and Borck, Guntram
(2013).
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum.
Am. J. Hum. Genet., 93 (3).
S. 524 - 530.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Basel-Vanagaite, Lina, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Ramirez-Solis, Ramiro
ORCID: 0000-0003-4182-173X, Segref, Alexandra
ORCID: 0000-0001-8095-4469, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miro, Xavier, White, Jacqueline K., Desir, Julie, Abramowicz, Marc
ORCID: 0000-0003-0623-8768, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward
ORCID: 0000-0002-1799-9899, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine
ORCID: 0000-0002-5391-3378, Ingham, Neil J., Altmueller, Janine, Nuernberg, Gudrun, Frommolt, Peter
ORCID: 0000-0002-1966-8014, Abdelhak, Sonia
ORCID: 0000-0001-8466-5525, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nuernberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten
ORCID: 0000-0002-4734-9352, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Adams, David J. and Borck, Guntram
(2012).
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome.
Am. J. Hum. Genet., 91 (6).
S. 998 - 1011.
CAMBRIDGE:
CELL PRESS.
ISSN 0002-9297
von Ameln, Simon ORCID: 0000-0002-2242-3165, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nuernberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nuernberg, Peter, Hofmann, Kay, Richardson, Gu Y. P., Hammerschmidt, Matthias, Moser, Tobias
ORCID: 0000-0001-7145-0533, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2012).
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
Am. J. Hum. Genet., 91 (5).
S. 919 - 928.
CAMBRIDGE:
CELL PRESS.
ISSN 0002-9297
Schmitt, Ina, Wuellner, Ullrich, van Rooyen, Jan Pierre, Khazneh, Hassan, Becker, Julian, Volk, Alexander, Kubisch, Christian ORCID: 0000-0003-4220-0978, Becker, Tim, Kostic, Vladimir S., Klein, Christine and Ramirez, Alfredo
ORCID: 0000-0003-4991-763X
(2012).
Variants in the 3 ' UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Eur. J. Hum. Genet., 20 (12).
S. 1265 - 1270.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nuernberg, Gudrun, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Hofmann, Kay, Konen, Osnat, Nuernberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian
ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina
(2012).
elF2 gamma Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation.
Mol. Cell, 48 (4).
S. 641 - 647.
CAMBRIDGE:
CELL PRESS.
ISSN 1097-2765
Kakar, Naseebullah, Goebel, Ingrid, Daud, Shakeela, Nuernberg, Gudrun, Agha, Noor, Ahmad, Adeel, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jamil and Borck, Guntram
(2012).
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Eur. J. Med. Genet., 55 (12).
S. 727 - 732.
AMSTERDAM:
ELSEVIER.
ISSN 1878-0849
Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin ORCID: 0000-0003-0683-9731, von Ameln, Simon
ORCID: 0000-0002-2242-3165, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian
ORCID: 0000-0003-4220-0978, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias and Robertson, Stephen P.
(2011).
Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid.
Am. J. Hum. Genet., 89 (5).
S. 595 - 607.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Ugolino, Janet, Fang, Shengyun, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Monteiro, Mervyn J.
(2011).
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
Hum. Mol. Genet., 20 (18).
S. 3565 - 3578.
OXFORD:
OXFORD UNIV PRESS.
ISSN 0964-6906
Behrens, Maria I., Brueggemann, Norbert, Chana, Pedro ORCID: 0000-0001-9946-3299, Venegas, Pablo, Kaegi, Marianne, Parrao, Teresa, Orellana, Patricia, Garrido, Cristian, Rojas, Cecilia V., Hauke, Jan, Hahnen, Eric, Gonzalez, Rafael, Seleme, Nicolas, Fernandez, Veronica, Schmidt, Alexander, Binkofski, Ferdinand
ORCID: 0000-0002-6750-943X, Koempf, Detlef, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Hagenah, Johann, Klein, Christine and Ramirez, Alfredo
ORCID: 0000-0003-4991-763X
(2010).
Clinical Spectrum of Kufor-Rakeb Syndrome in the Chilean Kindred with ATP13A2 Mutations.
Mov. Disord., 25 (12).
S. 1929 - 1938.
HOBOKEN:
WILEY.
ISSN 1531-8257
Li, Yun, Pabst, Stefan, Kubisch, Christian ORCID: 0000-0003-4220-0978, Grohe, Christian and Wollnik, Bernd
(2010).
First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.
Thorax, 65 (10).
S. 939 - 943.
LONDON:
B M J PUBLISHING GROUP.
ISSN 0040-6376
Anttila, Verneri ORCID: 0000-0002-0073-4675, Stefansson, Hreinn
ORCID: 0000-0002-9331-6666, Kallela, Mikko, Todt, Unda, Terwindt, Gisela M., Calafato, M. Stella, Nyholt, Dale R., Dimas, Antigone S., Freilinger, Tobias, Mueller-Myhsok, Bertram, Artto, Ville, Inouye, Michael
ORCID: 0000-0001-9413-6520, Alakurtti, Kirsi, Kaunisto, Mari A., Haemaelaeinen, Eija, de Vries, Boukje, Stam, Anine H., Weller, Claudia M., Heinze, Axel, Heinze-Kuhn, Katja, Goebel, Ingrid, Borck, Guntram, Goebel, Hartmut, Steinberg, Stacy, Wolf, Christiane, Bjoernsson, Asgeir, Gudmundsson, Gretar, Kirchmann, Malene, Hauge, Anne, Werge, Thomas, Schoenen, Jean, Eriksson, Johan G., Hagen, Knut, Stovner, Lars, Wichmann, Erich, Meitinger, Thomas
ORCID: 0000-0002-8838-8403, Alexander, Michael, Moebus, Susanne, Schreiber, Stefan, Aulchenko, Yurii S., Breteler, Monique M. B., Uitterlinden, Andre G., Hofman, Albert, van Duijn, Cornelia M., Tikka-Kleemola, Paevi, Vepsaelaeinen, Salli, Lucae, Susanne, Tozzi, Federica
ORCID: 0000-0002-3536-2920, Muglia, Pierandrea
ORCID: 0000-0002-3973-8606, Barrett, Jeffrey, Kaprio, Jaakko
ORCID: 0000-0002-3716-2455, Faerkkilae, Markus, Peltonen, Leena, Stefansson, Kari, Zwart, John-Anker, Ferrari, Michel D., Olesen, Jes
ORCID: 0000-0002-6712-2702, Daly, Mark, Wessman, Maija, van den Maagdenberg, Arn M. J. M., Dichgans, Martin, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Dermitzakis, Emmanouil T., Frants, Rune R. and Palotie, Aarno
(2010).
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Nature Genet., 42 (10).
S. 869 - 875.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718