Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

Por Kocks, A, Endele, S, Heller, R, Schroder, B, Schafer, H, Stadtler, C, Makrigeorgi-Buter..., M, Winterpacht, A
Publicado em 2002

Continuous single cell imaging reveals sequential steps of plasmacytoid dendritic cell development from common dendritic cell progenitors

Por Dursun, Ezgi, Endele, Max, Musumeci, Andrea, Failmezger, Henrik, Wang, Shu-Hung, Tresch, Achim, Schroeder, Timm, Krug, Anne B.
Publicado no Sci Rep (2016)

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

Por Wolff, D., Endele, S., Azzarello-Burri, S., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A., Reis, A., Zweier, C.
Publicado em 2012

CSF-1–induced Src signaling can instruct monocytic lineage choice

Por Endele, Max, Loeffler, Dirk, Kokkaliaris, Konstantinos D., Hilsenbeck, Oliver, Skylaki, Stavroula, Hoppe, Philipp S., Schambach, Axel, Stanley, E. Richard, Schroeder, Timm
Publicado no Blood (2017)

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

Por Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Publicado no Eur J Hum Genet (2015)

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Por Freunscht, Inga, Popp, Bernt, Blank, Rainer, Endele, Sabine, Moog, Ute, Petri, Holger, Prott, Eva-Christina, Reis, Andre, Rübo, Jochen, Zabel, Bernhard, Zenker, Martin, Hebebrand, Johannes, Wieczorek, Dagmar
Publicado em 2013

Prospective identification of hematopoietic lineage choice by deep learning

Por Buggenthin, Felix, Buettner, Florian, Hoppe, Philipp S, Endele, Max, Kroiss, Manuel, Strasser, Michael, Schwarzfischer, Michael, Loeffler, Dirk, Kokkaliaris, Konstantinos D, Hilsenbeck, Oliver, Schroeder, Timm, Theis, Fabian J, Marr, Carsten
Publicado no Nat Methods (2017)

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

Por Hüffmeier, U, Lascorz, J, Becker, T, Schürmeier-Horst, F, Magener, A, Ekici, A B, Endele, S, Thiel, C T, Thoma-Uszynski, S, Mössner, R, Reich, K, Kurrat, W, Wienker, T F, Traupe, H, Reis, A
Publicado em 2009

A Myc-driven self-reinforcing regulatory network maintains mouse embryonic stem cell identity

Por Fagnocchi, Luca, Cherubini, Alessandro, Hatsuda, Hiroshi, Fasciani, Alessandra, Mazzoleni, Stefania, Poli, Vittoria, Berno, Valeria, Rossi, Riccardo L., Reinbold, Rolland, Endele, Max, Schroeder, Timm, Rocchigiani, Marina, Szkarłat, Żaneta, Oliviero, Salvatore, Dalton, Stephen, Zippo, Alessio
Publicado no Nat Commun (2016)

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Por Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai
Publicado no Eur J Hum Genet (2016)

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Por Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André
Publicado em 2012

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Por Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David
Publicado em 2014

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

Por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado em 2009

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Por Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut
Publicado no Eur J Hum Genet (2015)

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

Por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael Werner, Stassart, Ruth Martha, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado em 2009

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Por Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmüller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renée, Cho, Megan T., Thiel, Christian T., Lüdecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo, Wilkie, Andrew O.M., Wieczorek, Dagmar, Engel, Felix B., Reis, André
Publicado no Am J Hum Genet (2018)

p62 Links β-adrenergic input to mitochondrial function and thermogenesis

Por Müller, Timo D., Lee, Sang Jun, Jastroch, Martin, Kabra, Dhiraj, Stemmer, Kerstin, Aichler, Michaela, Abplanalp, Bill, Ananthakrishnan, Gayathri, Bhardwaj, Nakul, Collins, Sheila, Divanovic, Senad, Endele, Max, Finan, Brian, Gao, Yuanqing, Habegger, Kirk M., Hembree, Jazzmin, Heppner, Kristy M., Hofmann, Susanna, Holland, Jenna, Küchler, Daniela, Kutschke, Maria, Krishna, Radha, Lehti, Maarit, Oelkrug, Rebecca, Ottaway, Nickki, Perez-Tilve, Diego, Raver, Christine, Walch, Axel K., Schriever, Sonja C., Speakman, John, Tseng, Yu-Hua, Diaz-Meco, Maria, Pfluger, Paul T., Moscat, Jorge, Tschöp, Matthias H.
Publicado em 2012

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Por Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Publicado em 2014

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Por Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Publicado no Am J Hum Genet (2015)