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Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc 
ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke
(2020).
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Hum. Genet., 139 (11).
S. 1363 - 1380.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Miranda, Marcelo, Harmuth, Florian, Leonor Bustamante, M., Rossi, Malco, Sturm, Marc ORCID: 0000-0002-6552-8362, Magnusson, Olafur Th, Bauer, Peter, Klockgether, Thomas and Ramirez, Alfredo ORCID: 0000-0003-4991-763X
(2020).
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Parkinsonism Relat. Disord., 81.
S. 45 - 48.
OXFORD:
ELSEVIER SCI LTD.
ISSN 1873-5126
Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc ORCID: 0000-0002-6552-8362, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana ORCID: 0000-0002-7965-7675, Varon, Raymonda, Schroeck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert ORCID: 0000-0003-4523-8808, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph ORCID: 0000-0002-7247-282X, Lemke, Johannes R., Hartkopf, Andreas, Riess, Olaf and Schroeder, Christopher
(2019).
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer, 19 (1).
LONDON:
BMC.
ISSN 1471-2407
Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S., Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W. ORCID: 0000-0002-5456-7761, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmueller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A., Stirnberg, Ruediger, Sturm, Marc ORCID: 0000-0002-6552-8362, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan ORCID: 0000-0002-2786-8200, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Bruestle, Oliver, Klopstock, Thomas, Mathews, Katherine D., Shy, Michael E., de Jonghe, Peter, Chinnery, Patrick F., Horvath, Rita ORCID: 0000-0002-9841-170X, Kohlhase, Juergen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schoels, Ludger, Nuernberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo ORCID: 0000-0003-4991-763X and Schuele, Rebecca
(2017).
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain, 140.
S. 1561 - 1579.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156