A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

por Osmanovic, Alma, Förster, Alisa, Widjaja, Maylin, Auber, Bernd, Das, Anibh M., Christians, Anne, Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Publicado 2022

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

por Osmanovic, Alma, Widjaja, Maylin, Förster, Alisa, Weder, Julia, Wattjes, Mike P., Lange, Inken, Sarikidi, Anastasia, Auber, Bernd, Raab, Peter, Christians, Anne, Preller, Matthias, Petri, Susanne, Weber, Ruthild G.
Publicado 2020

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

por Werfel, Lina, Martens, Helge, Hennies, Imke, Gjerstad, Ann Christin, Fröde, Kerstin, Altarescu, Gheona, Banerjee, Sushmita, Valenzuela Palafoll, Irene, Geffers, Robert, Kirschstein, Martin, Christians, Anne, Bjerre, Anna, Haffner, Dieter, Weber, Ruthild G.
Publicado 2023

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

por Osmanovic, Alma, Gogol, Isabel, Martens, Helge, Widjaja, Maylin, Müller, Kathrin, Schreiber-Katz, Olivia, Feuerhake, Friedrich, Langhans, Claus-Dieter, Schmidt, Gunnar, Andersen, Peter M., Ludolph, Albert C., Weishaupt, Jochen H., Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Publicado 2021

Rare heterozygous GDF6 variants in patients with renal anomalies

por Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S., Haffner, Dieter, Weber, Ruthild G.
Publicado 2020

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

por Weber, Christine A. M., Krönke, Nicole, Volk, Valery, Auber, Bernd, Förster, Alisa, Trost, Detlef, Geffers, Robert, Esmaeilzadeh, Majid, Lalk, Michael, Nabavi, Arya, Samii, Amir, Krauss, Joachim K., Feuerhake, Friedrich, Hartmann, Christian, Wiese, Bettina, Brand, Frank, Weber, Ruthild G.
Publicado 2023

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

por Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, Weber, Ruthild G.
Publicado 2022

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

por Förster, Alisa, Brand, Frank, Banan, Rouzbeh, Hüneburg, Robert, Weber, Christine A. M., Ewert, Wiebke, Kronenberg, Jessica, Previti, Christopher, Elyan, Natalie, Beyer, Ulrike, Martens, Helge, Hong, Bujung, Bräsen, Jan H., Erbersdobler, Andreas, Krauss, Joachim K., Stangel, Martin, Samii, Amir, Wolf, Stephan, Preller, Matthias, Aretz, Stefan, Wiese, Bettina, Hartmann, Christian, Weber, Ruthild G.
Publicado 2021

Haploinsufficiency of NFKBIA reshapes the epigenome antipodal to the IDH mutation and imparts disease fate in diffuse gliomas

por Bredel, Markus, Espinosa, Lluís, Kim, Hyunsoo, Scholtens, Denise M., McElroy, Joseph P., Rajbhandari, Rajani, Meng, Wei, Kollmeyer, Thomas M., Malta, Tathiane M., Quezada, Michael A., Harsh, Griffith R., Lobo-Jarne, Teresa, Solé, Laura, Merati, Aran, Nagaraja, Surya, Nair, Sindhu, White, Jaclyn J., Thudi, Nanda K., Fleming, Jessica L., Webb, Amy, Natsume, Atsushi, Ogawa, Seishi, Weber, Ruthild G., Bertran, Joan, Haque, S. Jaharul, Hentschel, Bettina, Miller, C. Ryan, Furnari, Frank B., Chan, Timothy A., Grosu, Anca-Ligia, Weller, Michael, Barnholtz-Sloan, Jill S., Monje, Michelle, Noushmehr, Houtan, Jenkins, Robert B., Rogers, C. Leland, MacDonald, David R., Pugh, Stephanie L., Chakravarti, Arnab
Publicado 2023