Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study von Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia von Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction von Tiosano, Dov, Baris, Hagit N, Chen, Anlu, Hitzert, Marrit M, Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G, Rump, Patrick, van Meer, Hester, Sival, Deborah A, Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X, Reis, André, Hauer, Nadine N, Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T, Wiesener, Michael S, Aslanyan, Mariam G, Buchner, David A

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

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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin von Ekici, Arif B., Hackenbeck, Thomas, Morinière, Vincent, Pannes, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B., Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, André, Eckardt, Kai-Uwe, Wiesener, Michael S.

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature von Hauer, Nadine N., Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif. B, Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian T.

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Rare copy number variants are a common cause of short stature von Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B, Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities von Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature von Hauer, Nadine N, Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S, Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B, De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R, Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T

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Is MED13L-related intellectual disability a recognizable syndrome? von Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann

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The Novel MYH9 Variant, c.1270C>G, p.Arg424Gly, May Primarily Cause Hepato-/Renal Disease: PUB194 von Jobst-Schwan, Tilman, Wiesener, Antje, Wopperer, Florian J., Schiffer, Mario, Wiesener, Michael S.

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3639 WHEN WHOLE EXOME SEQUENCING IS NOT GOOD ENOUGH: BACK TO THE ROOTS OR FORWARD TO THE FUTURE von Ekici, Arif, Knaup, Karl, Schneider, Karen, Wopperer, Florian, Wiesener, Antje, Dieterle, Anne, Schiffer, Mario, Reis, Andre, Pasutto, Francesca, Wiesener, Michael

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3166 RECOGNITION OF RENAL TUBULAR DYSGENESIS IN ADOLESCENT CKD BY BIALLELIC AGT VARIANTS REQUIRED BROAD GENETIC ANALYSIS von Wopperer, Florian, Olinger, Eric, Knaup, Karl, Wiesener, Antje, Broeker, Katharina, Schiffer, Mario, Hilgers, Karl, Pasutto, Francesca, Sayer, John, Wiesener, Michael

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Exome Pool-Seq in neurodevelopmental disorders von Popp, Bernt, Ekici, Arif B, Thiel, Christian T, Hoyer, Juliane, Wiesener, Antje, Kraus, Cornelia, Reis, André, Zweier, Christiane

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature von Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T

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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases von Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schürfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Gödel, Markus, Wiesener, Antje, Popp, Bernt, Stark, Klaus J., Gröne, Hermann-Josef, Friedrich, Björn, Weiß, Martin, Basic-Jukic, Nikolina, Schiffer, Mario, Schröppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Büttner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, André, Pasutto, Francesca, Wiesener, Michael S.

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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking von Behne, Robert, Teinert, Julian, Wimmer, Miriam, D’Amore, Angelica, Davies, Alexandra K, Scarrott, Joseph M, Eberhardt, Kathrin, Brechmann, Barbara, Chen, Ivy Pin-Fang, Buttermore, Elizabeth D, Barrett, Lee, Dwyer, Sean, Chen, Teresa, Hirst, Jennifer, Wiesener, Antje, Segal, Devorah, Martinuzzi, Andrea, Duarte, Sofia T, Bennett, James T, Bourinaris, Thomas, Houlden, Henry, Roubertie, Agathe, Santorelli, Filippo M, Robinson, Margaret, Azzouz, Mimoun, Lipton, Jonathan O, Borner, Georg H H, Sahin, Mustafa, Ebrahimi-Fakhari, Darius

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Molecular diagnosis of kidney transplant failure based on urine von Wiesener, Antje, Knaup, Karl X., Büttner‐Herold, Maike, Dieterle, Anne, Stoeckert, Johanna, Riedl, Bernhard, Morath, Christian, Wald, Alexandra, Vondran, Florian, Braun, Felix, Schödel, Johannes, Schueler, Markus, Schiffer, Mario, Amann, Kerstin, Reis, André, Kraus, Cornelia, Wiesener, Michael S.

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders von Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6 von Gerber, Céline B, Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R, Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina, Wiesener, Antje, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane

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