Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Por Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J
Publicado em 2014

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Por Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel, Begemann, Matthias, Kanber, Deniz, Platzer, Konrad, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew, Heller, Raoul, Buiting, Karin, Eggermann, Thomas
Publicado no Eur J Hum Genet (2015)

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Por Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, Brunhilde
Publicado no Am J Hum Genet (2016)

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Por Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, Brunhilde
Publicado no Am J Hum Genet (2016)

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Por Schreml, Julia, Riessland, Markus, Paterno, Mario, Garbes, Lutz, Roßbach, Kristina, Ackermann, Bastian, Krämer, Jan, Somers, Eilidh, Parson, Simon H, Heller, Raoul, Berkessel, Albrecht, Sterner-Kock, Anja, Wirth, Brunhilde
Publicado em 2013

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Por Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicado em 2011

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Por Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin
Publicado em 2008

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Por Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.
Publicado no Hum Mol Genet (2015)

Mutation of POC1B in a severe syndromic retinal ciliopathy

Por Beck, Bodo B., Phillips, Jennifer B., Bartram, Malte P., Wegner, Jeremy, Thoenes, Michaela, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Göbel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nürnberg, Gudrun, Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe, Bolz, Hanno J.
Publicado no Hum Mutat (2014)

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Por Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., Hegele, Robert A., Schreml, Julia, Lapointe, Gabriel, Keupp, Katharina, Brett, Christopher L., Anderson, Rebecca, Hahn, Andreas, Innes, A. Micheil, Suchowersky, Oksana, Mets, Marilyn B., Nürnberg, Gudrun, McLeod, D. Ross, Thiele, Holger, Waggoner, Darrel, Altmüller, Janine, Boycott, Kym M., Schoser, Benedikt, Nürnberg, Peter, Ober, Carole, Heller, Raoul, Parboosingh, Jillian S., Wollnik, Bernd, Sacher, Michael, Lamont, Ryan E.
Publicado em 2013