Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Verheyen Sarah |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2024
Abstract (Zeitschrift)
** 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.
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** Fritsch, M; Plecko, B; Seidel, MG; Verheyen, S; Fröhlich-Reiterer, E
Hybrid closed loop therapy in an infant with postnatal onset of insulin dependent mitochondrial diabetes due to Pearson syndrome
HORM RES PAEDIAT. Abstracts. 2024; 97: 314-314.-50th ISPAD Annual Conference; OCT 16-19, 2024; Lisbon, PORTUGAL.
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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.
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2023
Originalarbeit (Zeitschrift)
** 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
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Fallbericht
** Rieger, M; Moutton, S; Verheyen, S; Steindl, K; Popp, B; Leheup, B; Bonnet, C; Oneda, B; Rauch, A; Reis, A; Krumbiegel, M; Hüffmeier, U
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Eur J Med Genet. 2023; 66(1):104669
Doi: 10.1016/j.ejmg.2022.104669
(- Case Report)
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Biographical-Item
** Verheyen, S; Heitzer, E; Geigl, J
Obituary Prof. Dr. med. Michael Speicher
MED GENET-BERLIN. 2023; 35(4): 297-298.
Doi: 10.1515/medgen-2023-2063
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2022
Originalarbeit (Zeitschrift)
** Nagy, D; Verheyen, S; Wigby, KM; Borovikov, A; Sharkov, A; Slegesky, V; Larson, A; Fagerberg, C; Brasch-Andersen, C; Kibæk, M; Bader, I; Hernan, R; High, FA; Chung, WK; Schieving, JH; Behunova, J; Smogavec, M; Laccone, F; Witsch-Baumgartner, M; Zobel, J; Duba, HC; Weis, D
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel). 2022; 13(1):
Doi: 10.3390/genes13010154
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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
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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
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Abstract (Zeitschrift)
** Rieger, M; Moutton, S; Verheyen, S; Speicher, M; Leheup, B; Bonnet, C; Steindl, K; Boneda, B; Rauch, A; Krumbiegel, M; Reis, A; Huffmeier, U
Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay
EUR J HUM GENET. 2022; 30(SUPPL 1): 245-246.
[Poster]
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2021
Originalarbeit (Zeitschrift)
** 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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2020
Originalarbeit (Zeitschrift)
** Verheyen, S; Speicher, MR; Ramler, B; Plecko, B
Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
Neurol Genet. 2020; 6(5): e494-e494.
Doi: 10.1212/NXG.0000000000000494
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Abstract (Zeitschrift)
** Treiber, G; Verheyen, N; Verheyen, S; Mader, JK; Sourij, H
"Atypical" Diabetes - There´s more than Type 1 and Type 2-A Case Report.
WIEN KLIN WOCHENSCHR. Abstracts 51. Jahrestagung der Österreichischen Gesellschaft für Innere Medizin. 2020; 132(SUPPL 2):69-69.-51.Jahrestagung der Österreichischen Gesellschaft für Innere Medizin; SEP 24-26, 2020; Salzburg, AUSTRIA.
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2019
Originalarbeit (Zeitschrift)
** Pansy, J; Barones, C; Urlesberger, B; Pokorny, FB; Bartl-Pokorny, KD; Verheyen, S; Marschik, PB; Einspieler, C
Early motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report.
Res Dev Disabil. 2019; 88: 16-21.
Doi: 10.1016/j.ridd.2019.01.012
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** Pertl, B; Eder, S; Stern, C; Verheyen, S
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies.
Ultraschall Med. 2019; 40(6): 692-721.
Doi: 10.1055/a-1015-0157
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2017
Originalarbeit (Zeitschrift)
** Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589
Doi: 10.1155/2017/7202589
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2016
Originalarbeit (Zeitschrift)
** Juch, H; Lupattelli, A; Ystrom, E; Verheyen, S; Nordeng, H
Medication adherence among pregnant women with hypothyroidism-missed opportunities to improve reproductive health? A cross-sectional, web-based study.
Patient Educ Couns. 2016; 99(10):1699-1707
Doi: 10.1016/j.pec.2016.04.006
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** Rezania, S; Kammerer, S; Li, C; Steinecker-Frohnwieser, B; Gorischek, A; DeVaney, TT; Verheyen, S; Passegger, CA; Tabrizi-Wizsy, NG; Hackl, H; Platzer, D; Zarnani, AH; Malle, E; Jahn, SW; Bauernhofer, T; Schreibmayer, W
Overexpression of KCNJ3 gene splice variants affects vital parameters of the malignant breast cancer cell line MCF-7 in an opposing manner.
BMC Cancer. 2016; 16(1):628-628
Doi: 10.1186/s12885-016-2664-8
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** Tomaschitz, A; Verheyen, N; Meinitzer, A; Pieske, B; Belyavskiy, E; Brussee, H; Haas, J; März, W; Pieske-Kraigher, E; Verheyen, S; Ofner-Ziegenfuss, L; Hartaigh, BÓ; Schwetz, V; Aberer, F; Grübler, M; Lang, F; Alesutan, I; Voelkl, J; Gaksch, M; Horina, JH; Dimai, HP; Rus-Machan, J; Stiegler, C; Ritz, E; Fahrleitner-Pammer, A; Pilz, S
Effect of eplerenone on parathyroid hormone levels in patients with primary hyperparathyroidism: results from the EPATH randomized, placebo-controlled trial.
J Hypertens. 2016; 34(7):1347-56
Doi: 10.1097/HJH.0000000000000927
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