Universität zu Köln

Journal Article

Ahmad, Farooq, Nasir, Abdul ORCID: 0000-0002-2339-3500, Thiele, Holger, Umair, Muhammad, Borck, Guntram and Ahmad, Wasim (2018). A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. Ann. Hum. Genet., 82 (4). S. 232 - 239. HOBOKEN: WILEY. ISSN 1469-1809

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

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

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

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

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

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

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

Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

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

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

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

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

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Koy, Anne, Kuehn, Andrea A., Huebl, Julius, Schneider, Gerd-Helge, van Riesen, Anne K., Eckenweiler, Matthias, Rensing-Zimmermann, Cornelia, Coenen, Volker Arnd, Krauss, Joachim K., Saryyeva, Assel, Hartmann, Hans, Haeussler, Martin, Volkmann, Jens, Matthies, Cordula, Horn, Annette, Schnitzler, Alfons ORCID: 0000-0002-6414-7939, Vesper, Jan, Gharabaghi, Alireza, Weiss, Daniel, Bevot, Andrea, Marks, Warren, Pomykal, Angela, Monbaliu, Elegast, Borck, Guntram, Mueller, Joerg, Prinz-Langenohl, Reinhild, Dembek, Till, Visser-Vandewalle, Veerle, Wirths, Jochen, Schiller, Petra, Hellmich, Martin and Timmermann, Lars . Quality of Life after Deep Brain Stimulation of Pediatric Patients With Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study With a Subsequent Randomized Double-Blind Crossover (STIM-CP). Mov. Disord.. HOBOKEN: WILEY. ISSN 1531-8257

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

Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 and Wollnik, Bernd (2011). A mutation screen in patients with Kabuki syndrome. Hum. Genet., 130 (6). S. 715 - 725. NEW YORK: SPRINGER. ISSN 0340-6717

Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba ORCID: 0000-0001-5371-6756, Stanier, Philip ORCID: 0000-0001-9340-8117, Knapp, Michael and Ludwig, Kerstin U. (2016). Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am. J. Hum. Genet., 98 (4). S. 755 - 763. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

Renner, Sina, Schueler, Helke, Alawi, Malik, Kolbe, Verena, Rybczynski, Meike, Woitschach, Rixa, Sheikhzadeh, Sara, Stark, Veronika C., Olfe, Jakob, Roser, Elke, Seggewies, Friederike Sophia, Mahlmann, Adrian, Hempel, Maja, Hartmann, Melanie J., Hillebrand, Mathias, Wieczorek, Dagmar, Volk, Alexander Erich, Kloth, Katja, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Mitter, Diana, Altmueller, Janine, Wey-Fabrizius, Alexandra, Petersen, Christine, Rau, Isabella, Borck, Guntram, Kubisch, Christian, Mir, Thomas S., von Kodolitsch, Yskert, Kutsche, Kerstin and Rosenberger, Georg (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet. Med., 21 (8). S. 1832 - 1842. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Ruestem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S. and Borck, Guntram (2017). Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum. Genet., 136 (11-12). S. 1455 - 1462. NEW YORK: SPRINGER. ISSN 1432-1203

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

Stange, Katja ORCID: 0000-0002-8416-2204, Desir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra ORCID: 0000-0002-6056-6669 and Borck, Guntram (2015). A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J. Rare Dis., 10. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172

Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum. Genet., 138 (6). S. 593 - 601. NEW YORK: SPRINGER. ISSN 1432-1203

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