BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

door Jee, Youn Hee, Sowada, Nadine, Markello, Thomas C., Rezvani, Iraj, Borck, Guntram, Baron, Jeffrey
Gepubliceerd in Clin Genet (2016)

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

door Spielmann, Malte, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nürnberg, Gudrun, Sowada, Nadine, Lupiáñez, Darío G., Harabula, Izabela, Flöttmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Rüstem, Altmüller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nürnberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian, Mundlos, Stefan, Borck, Guntram
Gepubliceerd in Genome Res (2016)

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

door 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
Gepubliceerd in Genome Res (2015)

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

door Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Holger, Thiele, 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, Nünberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian
Gepubliceerd in Genome Res (2015)