Systematic Association Mapping Identifies NELL1 as a Novel IBD Disease Gene

por Franke, Andre, Hampe, Jochen, Rosenstiel, Philip, Becker, Christian, Wagner, Florian, Häsler, Robert, Little, Randall D., Huse, Klaus, Ruether, Andreas, Balschun, Tobias, Wittig, Michael, ElSharawy, Abdou, Mayr, Gabriele, Albrecht, Mario, Prescott, Natalie J., Onnie, Clive M., Fournier, Hélène, Keith, Tim, Radelof, Uwe, Platzer, Matthias, Mathew, Christopher G., Stoll, Monika, Krawczak, Michael, Nürnberg, Peter, Schreiber, Stefan
Publicado 2007

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

por Borck, Guntram, Hög, 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, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian
Publicado 2015

Copy number variants in lipid metabolism genes are associated with gallstones disease in men

por Pérez-Palma, Eduardo, Bustos, Bernabé I., Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shönfels, Witigo, Schafmayer, Clemens, Ahnert, Peter, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Puschel, Klaus, Gutiérrez, Rodrigo A., Hampe, Jochen, Nürnberg, Peter, Miquel, Juan Francisco, De Ferrari, Giancarlo V.
Publicado 2019

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

por Hauke, Jan, Harter, Philipp, Ernst, Corinna, Burges, Alexander, Schmidt, Sandra, Reuss, Alexander, Borde, Julika, De Gregorio, Nikolaus, Dietrich, Dimo, El-Balat, Ahmed, Kayali, Mohamad, Gevensleben, Heidrun, Hilpert, Felix, Altmüller, Janine, Heimbach, André, Meier, Werner, Schoemig-Markiefka, Birgid, Thiele, Holger, Kimmig, Rainer, Nürnberg, Peter, Kast, Karin, Richters, Lisa, Sehouli, Jalid, Schmutzler, Rita K, Hahnen, Eric
Publicado 2022

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

por Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2022

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia

por Ellinghaus, E, Stanulla, M, Richter, G, Ellinghaus, D, te Kronnie, G, Cario, G, Cazzaniga, G, Horstmann, M, Panzer Grümayer, R, Cavé, H, Trka, J, Cinek, O, Teigler-Schlegel, A, ElSharawy, A, Häsler, R, Nebel, A, Meissner, B, Bartram, T, Lescai, F, Franceschi, C, Giordan, M, Nürnberg, P, Heinzow, B, Zimmermann, M, Schreiber, S, Schrappe, M, Franke, A
Publicado 2012

Rare gene deletions in genetic generalized and Rolandic epilepsies

por Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmüller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, André G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz, Sander, Thomas, Neubauer, Bernd A., May, Patrick, Lerche, Holger, Nürnberg, Peter
Publicado 2018

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

por Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmüller, Janine, Thiele, Holger, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid
Publicado 2021

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

por López-Rivera, Javier A, Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Bhattarai, Nisha, Pérez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Bien, Christian G, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmüller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Publicado 2022

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

por Pérez-Palma, Eduardo, Helbig, Ingo, Klein, Karl Martin, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig, Ganna, Andrea, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R, Saarentaus, Elmo, Howrigan, Daniel P, Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Neubauer, Bern A, Becker, Albert J, Rosenow, Felix, Perucca, Emilio, Zara, Federico, Weber, Yvonne G, Lal, Dennis
Publicado 2017

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

por Bustos, Bernabé I., Pérez-Palma, Eduardo, Buch, Stephan, Azócar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D., Toliat, Mohammad, Nürnberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schönfels, Witigo, Schafmayer, Clemens, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Santos, José Luis, Puschel, Klaus, Bambs, Claudia, Roa, Juan Carlos, Gutiérrez, Rodrigo A., Hampe, Jochen, De Ferrari, Giancarlo V., Miquel, Juan Francisco
Publicado 2019

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

por Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid
Publicado 2020

A detector for CLIC: main parameters and performance

por Arominski, Dominik, Blaising, Jean-Jacques, Brondolin, Erica, Dannheim, Dominik, Elsener, Konrad, Gaede, Frank, Garcia Garcia, Ignacio, Green, Steven, Hynds, Daniel, Leogrande, Emilia, Linssen, Lucie, Marshall, John Stuart, Nikiforou, Nikiforos, Nurnberg, Andreas Matthias, Perez Codina, Estel, Petric, Marko, Pitters, Florian Michael, Robson, Aidan, Roloff, Philipp Gerhard, Sailer, Andre, Schnoor, Ulrike, Simon, Frank Richard, Simoniello, Rosa, Spannagel, Simon, Strom, Lars Rickard, Viazlo, Oleksandr, Weber, Matthias Artur, Xu, Boruo
Publicado 2018

Molecular cause and functional impact of altered synaptic lipid signaling due to a prg‐1 gene SNP

por Vogt, Johannes, Yang, Jenq‐Wei, Mobascher, Arian, Cheng, Jin, Li, Yunbo, Liu, Xingfeng, Baumgart, Jan, Thalman, Carine, Kirischuk, Sergei, Unichenko, Petr, Horta, Guilherme, Radyushkin, Konstantin, Stroh, Albrecht, Richers, Sebastian, Sahragard, Nassim, Distler, Ute, Tenzer, Stefan, Qiao, Lianyong, Lieb, Klaus, Tüscher, Oliver, Binder, Harald, Ferreiros, Nerea, Tegeder, Irmgard, Morris, Andrew J, Gropa, Sergiu, Nürnberg, Peter, Toliat, Mohammad R, Winterer, Georg, Luhmann, Heiko J, Huai, Jisen, Nitsch, Robert
Publicado 2015

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

por Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horváth, Judit, Niederacher, Dieter, Arnold, Norbert, Kaulfuß, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmüller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nürnberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2019

Distinct genetic variation and heterogeneity of the Iranian population

por Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nürnberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, Nothnagel, Michael
Publicado 2019

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

por Kargapolova, Yulia, Rehimi, Rizwan, Kayserili, Hülya, Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan, Hoischen, Alexander, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa, Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro, Kurian, Leo, Wollnik, Bernd, Bouazoune, Karim, Papantonis, Argyris
Publicado 2021

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010

CLICdet: The post-CDR CLIC detector model

por Alipour Tehrani, Niloufar, Blaising, Jean-Jacques, Cure, Benoit, Dannheim, Dominik, Duarte Ramos, Fernando, Elsener, Konrad, Gaddi, Andrea, Gerwig, Hubert, Green, Steven, Grefe, Christian, Hynds, Daniel, Klempt, Wolfgang, Linssen, Lucie, Nikiforou, Nikiforos, Nurnberg, Andreas Matthias, Marshall, John Stuart, Petric, Marko, Redford, Sophie, Roloff, Philipp Gerhard, Sailer, Andre, Sefkow, Felix, Sicking, Eva, Siegrist, Nicolas, Simon, Frank Richard, Simoniello, Rosa, Spannagel, Simon, Sroka, Szymon Krzysztof, Strom, Lars Rickard, Weber, Matthias Artur
Publicado 2017