Medizinische Universität Graz - Research portal
Tichy Heidelis Anna |
** = 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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** 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
FullText
2023
Full paper/article (Journal)
** 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]
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PubMed
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2022
Abstract (Journal)
** Grubler, M; Zach, D; Holler, V; Seebacher, HA; Verheyen, N
A rare genetic cause of left ventricular hypertrophy and heart failure with preserved ejection fraction
WIEN KLIN WOCHENSCHR. 2022; 134(SUPPL 2):129-129.
[Poster]
Web of Science
2021
Full paper/article (Journal)
** Höller, V; Seebacher, H; Zach, D; Schwegel, N; Ablasser, K; Kolesnik, E; Gollmer, J; Waltl, G; Rainer, PP; Verheyen, S; Zirlik, A; Verheyen, N
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Genes (Basel). 2021; 12(10):
Doi: 10.3390/genes12101469
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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
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Web of Science
PubMed
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