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Journal Article
Rump, Andreas 
ORCID: 0000-0001-7116-6364, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavicius, Ramunas, Machackova, Eva ORCID: 0000-0002-0246-1471, Foretov, Lenka, Kleibl, Zdenek ORCID: 0000-0003-2050-9667, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schroeck, Evelin and Klink, Barbara
(2016).
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
PLoS Genet., 12 (8).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404
Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364
(2016).
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J. Med. Genet., 53 (6).
S. 419 - 426.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas ORCID: 0000-0001-7116-6364 and Dobyns, William B.
(2016).
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Am. J. Med. Genet. A, 170 (10).
S. 2644 - 2652.
HOBOKEN:
WILEY.
ISSN 1552-4833