Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Rupp Verena |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2017
Originalarbeit (Zeitschrift)
** Windpassinger, C; Piard, J; Bonnard, C; Alfadhel, M; Lim, S; Bisteau, X; Blouin, S; Ali, NB; Ng, AYJ; Lu, H; Tohari, S; Talib, SZA; van Hul, N; Caldez, MJ; Van Maldergem, L; Yigit, G; Kayserili, H; Youssef, SA; Coppola, V; de Bruin, A; Tessarollo, L; Choi, H; Rupp, V; Roetzer, K; Roschger, P; Klaushofer, K; Altmüller, J; Roy, S; Venkatesh, B; Ganger, R; Grill, F; Ben Chehida, F; Wollnik, B; Altunoglu, U; Al Kaissi, A; Reversade, B; Kaldis, P
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet. 2017; 101(3): 391-403.
Doi: 10.1016/j.ajhg.2017.08.003
[OPEN ACCESS]
Web of Science
PubMed
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FullText_MUG
2016
Originalarbeit (Zeitschrift)
** Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135
Doi: 10.1161/CIRCGENETICS.115.001193
[OPEN ACCESS]
Web of Science
PubMed
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FullText_MUG
2014
Originalarbeit (Zeitschrift)
** Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530
Doi: 10.1007/s12041-014-0394-8
[OPEN ACCESS]
Web of Science
PubMed
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** Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949
Doi: 10.1093/hmg/ddu318
[OPEN ACCESS]
Web of Science
PubMed
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** Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A
A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet. 2014; 15(10):107-107
Doi: 10.1186/s12881-014-0107-4
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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2012
Originalarbeit (Zeitschrift)
** Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863
Doi: 10.1016/j.ajhg.2012.03.023
[OPEN ACCESS]
Web of Science
PubMed
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** Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H
Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428
Doi: 10.1136/jmedgenet-2011-100674
Web of Science
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Abstract (Zeitschrift)
** Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wolfler, A; Zebisch, A; Olipitz, W; Geigl, JB; Berghold, A; Speicher, MR; Sill, H
Germ-line mutations in cancer predisposing genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy-related myeloid neoplasms.
ONKOLOGIE. Onkologie. 2012; 35: 117-117.-Annual Meeting of the German, Austrian and Swiss Associations of Hematology and Medical Oncology; OCT 19-23, 2012; Stuttgart, GERMANY.
[Poster]
Web of Science