Medizinische Universität Graz - Research portal
Blatterer Jasmin |
** = Publications listed in SCI/SSCI/Pubmed
2025
Case Report
** Peschaut, T; Michelitsch, M; Brandner, M; Kamper, S; Ofner-Ziegenfuss, L; Blatterer, J; Tichy, HA; Posch-Pertl, L
An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
CASE REP OPHTHALMOL. 2025; 16(1): 62-67.
Doi: 10.1159/000542708
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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2024
Full paper/article (Journal)
** Kohlmaier, B; Tichy, H; Blatterer, J; Till, H; Schlagenhauf, A; Knisely, AS
Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.
JPGN Rep. 2024; 5(4): 533-537.
Doi: 10.1002/jpr3.12131
[OPEN ACCESS]
PubMed
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Abstract (Journal)
** 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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** 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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2023
Full paper/article (Journal)
** 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.
Clin Genet. 2023; 104(4):491-496
Doi: 10.1111/cge.14381
Web of Science
PubMed
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** Mah-Som, AY; Daw, J; Huynh, D; Wu, M; Creekmore, BC; Burns, W; Skinner, SA; Holla, ØL; Smeland, MF; Planes, M; Uguen, K; Redon, S; Bierhals, T; Scholz, T; Denecke, J; Mensah, MA; Sczakiel, HL; Tichy, H; Verheyen, S; Blatterer, J; Schreiner, E; Thies, J; Lam, C; Spaeth, CG; Pena, L; Ramsey, K; Narayanan, V; Seaver, LH; Rodriguez, D; Afenjar, A; Burglen, L; Lee, EB; Chou, TF; Weihl, CC; Shinawi, MS
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet. 2023; 110(11): 1959-1975.
Doi: 10.1016/j.ajhg.2023.10.007
[OPEN ACCESS]
Web of Science
PubMed
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2022
Full paper/article (Journal)
** Muzammal, M; Ali, MZ; Brugger, B; Blatterer, J; Ahmad, S; Taj, S; Shah, SK; Khan, S; Enzinger, C; Petek, E; Wagner, K; Khan, MA; Windpassinger, C
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis. 2022; 37(1):243-252
Doi: 10.1007/s11011-021-00832-2
[OPEN ACCESS]
Web of Science
PubMed
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** Schaflinger, E; Blatterer, J; Khan, AS; Kaufmann, L; Auinger, L; Tatrai, B; Abbasi, SW; Zeeshan, Ali, M; Abbasi, AA; Al, Kaissi, A; Petek, E; Wagner, K; Ahmad, Khan, M; Windpassinger, C
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene. 2022; 833: 146582
Doi: 10.1016/j.gene.2022.146582
Web of Science
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** Verheyen, S; Blatterer, J; Speicher, MR; Bhavani, GS; 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.
J Med Genet. 2022; 59(10):957-964
Doi: 10.1136/jmedgenet-2021-108061
[OPEN ACCESS]
Web of Science
PubMed
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** Vogt, G; Verheyen, S; Schwartzmann, S; Ehmke, N; Potratz, C; Schwerin-Nagel, A; Plecko, B; Holtgrewe, M; Seelow, D; Blatterer, J; Speicher, MR; Kornak, U; Horn, D; Mundlos, S; Fischer-Zirnsak, B; Boschann, F
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet. 2022; 59(7):662-668
Doi: 10.1136/jmedgenet-2021-107843
[OPEN ACCESS]
Web of Science
PubMed
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Abstract (Journal)
** 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
2021
Full paper/article (Journal)
** Abbas, S; Brugger, B; Zubair, M; Gul, S; Blatterer, J; Wenninger, J; Rehman, K; Tatrai, B; Khan, MA; Windpassinger, C
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Neurol Res. 2021; 43(2):133-140
Doi: 10.1080/01616412.2020.1831329
Web of Science
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** Muin, DA; Kollmann, M; Blatterer, J; Hoermann, G; Husslein, PW; Lafer, I; Petek, E; Schwarzbraun, T
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
Sci Rep. 2021; 11(1): 6737-6737.
Doi: 10.1038/s41598-021-85893-0
[OPEN ACCESS]
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** Voisin, N; Schnur, RE; Douzgou, S; Hiatt, SM; Rustad, CF; Brown, NJ; Earl, DL; Keren, B; Levchenko, O; Geuer, S; Verheyen, S; Johnson, D; Zarate, YA; Hančárová, M; Amor, DJ; Bebin, EM; Blatterer, J; Brusco, A; Cappuccio, G; Charrow, J; Chatron, N; Cooper, GM; Courtin, T; Dadali, E; Delafontaine, J; Del, Giudice, E; Doco, M; Douglas, G; Eisenkölbl, A; Funari, T; Giannuzzi, G; Gruber-Sedlmayr, U; Guex, N; Heron, D; Holla, ØL; Hurst, ACE; Juusola, J; Kronn, D; Lavrov, A; Lee, C; Lorrain, S; Merckoll, E; Mikhaleva, A; Norman, J; Pradervand, S; Prchalová, D; Rhodes, L; Sanders, VR; Sedláček, Z; Seebacher, HA; Sellars, EA; Sirchia, F; Takenouchi, T; Tanaka, AJ; Taska-Tench, H; Tønne, E; Tveten, K; Vitiello, G; Vlčková, M; Uehara, T; Nava, C; Yalcin, B; Kosaki, K; Donnai, D; Mundlos, S; Brunetti-Pierri, N; Chung, WK; Reymond, A
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
AM J HUM GENET. 2021; 108(5): 857-873.
Doi: 10.1016/j.ajhg.2021.04.001
[OPEN ACCESS]
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2020
Case Report
** Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; 8(2):e1060
Doi: 10.1002/mgg3.1060
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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2019
Full paper/article (Journal)
** Muzammal, M; Zubair, M; Bierbaumer, S; Blatterer, J; Graf, R; Gul, A; Abbas, S; Badar, M; Abbasi, AA; Khan, MA; Windpassinger, C
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
MOL GENET GENOM MED. 2019; 7(8): e834-e834.
Doi: 10.1002/mgg3.834
[OPEN ACCESS]
Web of Science
PubMed
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Abstract (Journal)
** 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