Medizinische Universität Graz - Research portal
Blatterer Jasmin |
Presentations at scientific and public conferences
Blatterer, J; Hammer, S; Bierbaumer, S; Husic, R; Schmid, J; Schreiner, E; Tichy, H; Wagner, K; Verheyen, S
The zebra among horses - COPA syndrome as a potentially underdiagnosed autoimmune disorder
EUR J HUM GENET. 2024; 32: 1035-1035.
[Poster]
Web of Science
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Blatterer, J; Hammer, S; Wagner, K; Tichy, H; Schreiner, E; Spiegl, B; Bierbaumer, S; Smogavec, M; Lehner, R; Madritsch, S; Stadlmann, V; Hofer, M; Gerykova Bujalkova, M; Riepl, N; Umlauf, E; Mühlegger, B; Burkhard, S; Maurer, E; Schneebauer, E; Gröbner, E; Witsch-Baumgartner, M; Rötzer, K; Uyanik, G; Nagy, D; Maurer, M; Bader, I; Mayr, J; Ebner, S; Bogner, B; Pleyers, A; Kranewitter, W; Malli, T; Webersinke, G; Zschocke, J; Laccone, F; Verheyen, S
Austrian Exome meetings – a nationwide competence sharing initiative
15th International Symposium on Variants in the Genome; MAY 13-15, 2024; Povoa de Varzim, PORTUGAL. 2024.
[Poster]
Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, W; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
EUR J HUM GENET. 2024; 32: 408-408.-56th Annual Conference of the European-Society-of-Human-Genetics (ESHG); JUN 10-13, 2023; Glasgow, SCOTLAND.
Web of Science
Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Kuehberger, S; Tichy, H; Wagner, K; Verheyen, S
Phenotype expansion of SAMD9L-associated Ataxia-Pancytopenia Syndrome
EUR J HUM GENET. 2024; 32: 1039-1040.
[Poster]
Web of Science
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Vlachos, G; Moser, T; Eberhard, A; Glaswitch, L; Blatterer, J; Bauernhofer, E; Monsberger, N; Kashofer, K; Geigl, JB; Bauernhofer, T; Heitzer, E
Non-invasive detection of homologous recombination deficiency in metastatic prostate cancer patients.
Annual Meeting. 2024; -AACR 2024; APR 5-10, 2024; San Diego, USA;.
[Poster]
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Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, WF; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
European Human Genetics Conference 2023; JUN 10-13, 2023; Glasgow, Scotland, UK. 2023.
[Poster]
Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Speicher, M; Tichy, H; Wagner, K; Verheyen, S
Zusatzbefunde in der WES-HPO-Auswertung 2019-2023 am Grazer Institut für Humangenetik.
22. Jahrestagung der Österreichischen Gesellschaft für Humangenetik
; Sep 29, 2023; Wien, Österreich. 2023.
[Oral Communication]
Schreiner, E; Blatterer, J; Bierbaumer, S; Hammer, S; Schwerin-Nagel, A; Tichy, H; Wagner, K; Speicher, M; Verheyen, S
NXN-related Robinow-syndrome – Expansion of the clinical and genetic spectrum.
34. Jahrestagung der Deutschen Gesellschaft für Humangenetik e.V. ; Mar 15-17, 2023; Kassel, Germany. 2023.
[Poster]
Kaufmann, L; Blatterer, J; Mayer, AL; Auinger, L; Pilic, J; Schaflinger, E; Khan, AS; Tatrai, B; Abbasi, SW; Zeeshan Ali, M; Abbasi, AA; Graier, W; Al Kaissi, A; Wagner, K; Malli, R; Ahmad Khan, M; Windpassinger, C
Functional analysis of a biallelic N-terminal frameshift mutation in ZMPSTE24 escaping the predicted lethal phenotype
Med Uni Graz: DOCTORAL DAY 2022; FEB 10, 2022; Graz, AUSTRIA. 2022.
[Oral Communication]
Kaufmann, L; Blatterer, J; Schaflinger, E; Khan, AS; Auinger, L; Tatrai, B; Abbasi, SW; Ali, MZ; Abbasi, AA; Al Kaissi, A; Wagner, K; Khan, MA; Windpassinger, C
An exceptional biallelic N-terminal frameshift mutation in ZMPSTE24 leads to non-lethal progeria due to utilization of a downstream alternative start codon
EUR J HUM GENET. 2022; 30(SUPPL 1):182-182.
[Oral Communication]
Web of Science
Kaufmann, L; Pilic, J; Mayer, AL; Auinger, L; Blatterer, J; Graier, W; Al Kaissi, A; Petek, E; Wagner, K; Malli, R; Ahmad Khan, M; Windpassinger, C
Functional analysis of a biallelic N-terminal frameshift mutation in ZMPSTE24 escaping the predicted lethal phenotype
21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; SEP 29-30, 2022; Graz, AUSTRIA. 2022.
[Oral Communication]
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Schreiner, E; Blatterer, J; Tichy, H; Bierbaumer, S; Hammer, S; Artl, M; Wagner, K; Speicher, M; Verheyen, S
X-linked recessive intellectual developmental disorders in females – an overlooked cause? 3 case reports from Graz.
21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; Sept 29-30, 2022; Graz, Austria. 2022.
[Oral Communication]
Verheyen, S; Blatterer, J; Speicher, M; SriLakshmi Bhavani, G; Boons, GJ; Ilse, MB; Andrae, D; Sproß, J; Vaz, FM; Kircher, SG; Posch-Pertl, L; Baumgartner, D; Lübke, T; Shah, H; Al Kaissi, A; Girisha, KM; Plecko, B
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
www.forum-sk.at. 2021; -11. Österreichischer Kongress für Seltene Krankheiten/ 20.Jahrestagung der Österreichischen Gesellschaft für Humangenetik; SEP 24-25, 2021; Innsbruck.
[Oral Communication]
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Zobel, J; Plecko, B; Gruber-Sedlmayr, U; Rauter, L; Brunner-Krainz, M; Schwerin-Nagel, A; Kortschak, A; Egger, S; Raissakis, M; Köstl, G; Liechtenstein, C; Spiegl, B; Wagner, K; Seebacher, H; Bracco, C; Blatterer, J; Speicher, M; Verheyen, S
Über das Exom zur Diagnose: Ein Rückblick auf 17 Monate Whole Exome Sequencing in Graz.
Monatsschrift Kinderheilkunde. 2020; -OEGKJ Jahrestagung; SEP 23-26, 2020; Innsbruck, AUSTRIA.
[Oral Communication]
Khan, MA; Blatterer, J; Ali, MZ; Baufeld, L; Petek, E; Wagner, K; Ramadani-Muja, J; Malli, R; Muzammal, M; Windpassinger, C
Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
EUR J HUM GENET. 2019; 27: 1463-1463.
[Poster]
Web of Science