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Journal Article
Gizak, Agnieszka 
ORCID: 0000-0001-9367-0270, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw ORCID: 0000-0001-5207-4157, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz ORCID: 0000-0002-3823-3163, Gaertner, Jutta and Huppke, Peter
(2021).
A novel remitting leukodystrophy associated with a variant in FBP2.
Brain Commun., 3 (2).
OXFORD:
OXFORD UNIV PRESS.
ISSN 2632-1297
Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kuehn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mueller, Michael and Gaertner, Jutta (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723
Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244
Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuss, Silke, Yigit, Goekhan and Wollnik, Bernd
(2022).
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front. Cell. Dev. Biol., 10.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 2296-634X
Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366
Wong, Keit Men ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter
(2022).
Mutations in TAF8 cause a neurodegenerative disorder.
Brain, 145 (9).
S. 3022 - 3035.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156