Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Diagnostik und Forschungsinstitut für Humangenetik

SCI/PUBMED gelistet | alle Publikationstypen | Gesamt nach Jahr und Erstautor | MUG-Autor*innen |

** = Publikationen gelistet in SCI/SSCI/Pubmed

Originalarbeit (Zeitschrift)

** Campos, DAS; Weihs, D; Rosenkranz, M; Langner, C; Geigl, JB; Tschmelitsch, J; Eberl, T Pre- and Postoperative Levels of Carcinoembryonic Antigen in Microsatellite Stable Versus Instable Colon Cancer: a Retrospective Analysis
J GASTROINTEST CANC. 2022; Doi: 10.1007/s12029-022-00841-z
Web of Science PubMed FullText FullText_MUG

 

** Carvalhal, S; Bader, I; Rooimans, MA; Oostra, AB; Balk, JA; Feichtinger, RG; Beichler, C; Speicher, MR; van, Hagen, JM; Waisfisz, Q; van, Haelst, M; Bruijn, M; Tavares, A; Mayr, JA; Wolthuis, RMF; Oliveira, RA; de, Lange, J Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Sci Adv. 2022; 8(3): eabk0114 Doi: 10.1126/sciadv.abk0114 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Donker, HC; Schuuring, E; Heitzer, E; Groen, HJM Decoding circulating tumor DNA to identify durable benefit from immunotherapy in lung cancer
LUNG CANCER. 2022; 170: 52-57. Doi: 10.1016/j.lungcan.2022.05.013
Web of Science PubMed FullText FullText_MUG

 

** Galhuber, M; Michenthaler, H; Heininger, C; Reinisch, I; Nössing, C; Krstic, J; Kupper, N; Moyschewitz, E; Auer, M; Heitzer, E; Ulz, P; Birner-Gruenberger, R; Liesinger, L; Lenihan-Geels, GN; Oster, M; Spreitzer, E; Zenezini, Chiozzi, R; Schulz, TJ; Schupp, M; Madl, T; Heck, AJR; Prokesch, A Complementary omics strategies to dissect p53 signaling networks under nutrient stress.
Cell Mol Life Sci. 2022; 79(6):326 Doi: 10.1007/s00018-022-04345-8 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Hallermayr, A; Wohlfrom, T; Steinke-Lange, V; Benet-Pages, A; Scharf, F; Heitzer, E; Mansmann, U; Haberl, C; de Wit, M; Vogelsang, H; Rentsch, M; Holinski-Feder, E; Pickl, JMA Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients
J HEMATOL ONCOL. 2022; 15(1): 125 Doi: 10.1186/s13045-022-01342-z [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Horgan, D; Cufer, T; Gatto, F; Lugowska, I; Verbanac, D; Carvalho, A; Lal, JA; Kozaric, M; Toomey, S; Ivanov, HY; Longshore, J; Malapelle, U; Hasenleithner, S; Hofman, P; Alix-Panabieres, C Accelerating the Development and Validation of Liquid Biopsy for Early Cancer Screening and Treatment Tailoring
HEALTHCARE-BASEL. 2022; 10(9): 1714 Doi: 10.3390/healthcare10091714 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Hussain, S; Nawaz, A; Hamid, M; Ullah, W; Khan, IN; Afshan, M; Rehman, A; Nawaz, H; Halswick, J; Rehman, SU; Ahmad, S; Muzammal, M; Muhammad, N; Jan, A; Khan, S; Windpassinger, C; Khan, MA Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Biotechnol Appl Biochem. 2021; Doi: 10.1002/bab.2286
Web of Science PubMed FullText FullText_MUG

 

** Kieninger, S; Xiao, T; Weisschuh, N; Kohl, S; Rüther, K; Kroisel, PM; Brockmann, T; Knappe, S; Kellner, U; Lagrèze, W; Mazzola, P; Haack, TB; Wissinger, B; Tonagel, F DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet. 2022; Doi: 10.1136/jmedgenet-2021-108235 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Klec, C; Knutsen, E; Schwarzenbacher, D; Jonas, K; Pasculli, B; Heitzer, E; Rinner, B; Krajina, K; Prinz, F; Gottschalk, B; Ulz, P; Deutsch, A; Prokesch, A; Jahn, SW; Lellahi, SM; Perander, M; Barbano, R; Graier, WF; Parrella, P; Calin, GA; Pichler, M ALYREF, a novel factor involved in breast carcinogenesis, acts through transcriptional and post-transcriptional mechanisms selectively regulating the short NEAT1 isoform.
Cell Mol Life Sci. 2022; 79(7): 391 Doi: 10.1007/s00018-022-04402-2 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Neuper, L; Kummer, D; Forstner, D; Guettler, J; Ghaffari-Tabrizi-Wizsy, N; Fischer, C; Juch, H; Nonn, O; Gauster, M Candesartan Does Not Activate PPAR gamma and Its Target Genes in Early Gestation Trophoblasts
INT J MOL SCI. 2022; 23(20): 12326 Doi: 10.3390/ijms232012326 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Palles, C; Martin, L; Domingo, E; Chegwidden, L; McGuire, J; Cuthill, V; Heitzer, E; Kerr, R; Kerr, D; Kearsey, S; Clark, SK; Tomlinson, I; Latchford, A, , CORGI, Consortium The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Fam Cancer. 2022; Doi: 10.1007/s10689-021-00256-y [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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. 2022; 104669 Doi: 10.1016/j.ejmg.2022.104669
PubMed FullText FullText_MUG

 

** 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
PubMed FullText FullText_MUG

 

** Seidel, MG; Kashofer, K; Moser, T; Thueringer, A; Liegl-Atzwanger, B; Leithner, A; Szkandera, J; Benesch, M; El-Heliebi, A; Heitzer, E Clinical implementation of plasma cell-free circulating tumor DNA quantification by digital droplet PCR for the monitoring of Ewing sarcoma in children and adolescents.
Front Pediatr. 2022; 10: 926405 Doi: 10.3389/fped.2022.926405 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Sorger, H; Dey, S; Vieyra-Garcia, PA; Poloske, D; Teufelberger, AR; de Araujo, ED; Sedighi, A; Graf, R; Spiegl, B; Lazzeri, I; Braun, T; Alonso, IGD; Schlederer, M; Timelthaler, G; Kodajova, P; Pirker, C; Surbek, M; Machtinger, M; Graier, T; Perchthaler, I; Pan, Y; Fink-Puches, R; Cerroni, L; Ober, J; Otte, M; Albrecht, JD; Tin, G; Abdeldayem, A; Manaswiyoungkul, P; Olaoye, OO; Metzelder, ML; Orlova, A; Berger, W; Wobser, M; Nicolay, JP; Andre, F; Nguyen, V; Neubauer, HA; Fleck, R; Merkel, O; Herling, M; Heitzer, E; Gunning, PT; Kenner, L; Moriggl, R; Wolf, P Blocking STAT3/5 through direct or upstream kinase targeting in leukemic cutaneous T-cell lymphoma
EMBO MOL MED. 2022; Doi: 10.15252/emmm.202115200
Web of Science PubMed FullText FullText_MUG

 

** Suppan, C; Graf, R; Jahn, S; Zhou, Q; Klocker, EV; Bartsch, R; Terbuch, A; Kashofer, K; Regitnig, P; Lindenmann, J; Posch, F; Gerritsmann, H; Jost, PJ; Heitzer, E; Dandachi, N; Balic, M Sensitive and robust liquid biopsy-based detection of PIK3CA mutations in hormone-receptor-positive metastatic breast cancer patients.
Br J Cancer. 2022; 126(3):456-463 Doi: 10.1038/s41416-021-01601-9 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Vegas, N; Demir, Z; Gordon, CT; Breton, S; Tavares, VLR; Moisset, H; Zechi-Ceide, R; Kokitsu-Nakata, NM; Kido, Y; Marlin, S; Halem, SG; Meerschaut, I; Callewaert, B; Chung, B; Revencu, N; Lehalle, D; Petit, F; Propst, EJ; Papsin, BC; Phillips, JH; Jakobsen, L; Le Tanno, P; Thevenon, J; McGaughran, J; Gerkes, EH; Leoni, C; Kroisel, P; Tan, TY; Henderson, A; Terhal, P; Basel-Salmon, L; Alkindy, A; White, SM; Passos-Bueno, MR; Pingault, V; De Pontual, L; Amiel, J Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
HUM MUTAT. 2022; Doi: 10.1002/humu.24349
Web of Science PubMed FullText FullText_MUG

 

** 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 PUBMED Central FullText FullText_MUG

 

** 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 PUBMED Central FullText FullText_MUG

 

** Zhou, Q; Gampenrieder, SP; Frantal, S; Rinnerthaler, G; Singer, CF; Egle, D; Pfeiler, G; Bartsch, R; Wette, V; Pichler, A; Petru, E; Dubsky, PC; Bago-Horvath, Z; Fesl, C; Rudas, M; Ståhlberg, A; Graf, R; Weber, S; Dandachi, N; Filipits, M; Gnant, M; Balic, M; Heitzer, E Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.
Clin Cancer Res. 2022; 28(4):697-707 Doi: 10.1158/1078-0432.CCR-21-3231
Web of Science PubMed FullText FullText_MUG

 

Übersichtsarbeit

** Hasenleithner, SO; Speicher, MR A clinician's handbook for using ctDNA throughout the patient journey.
Mol Cancer. 2022; 21(1):81 Doi: 10.1186/s12943-022-01551-7 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** Heitzer, E; van den Broek, D; Denis, MG; Hofman, P; Hubank, M; Mouliere, F; Paz-Ares, L; Schuuring, E; Sultmann, H; Vainer, G; Verstraaten, E; de Visser, L; Cortinovis, D Recommendations for a practical implementation of circulating tumor DNA mutation testing in metastatic non-small-cell lung cancer
ESMO OPEN. 2022; 7(2): 100399 Doi: 10.1016/j.esmoop.2022.100399 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Fallbericht

** Woltsche, N; Posch-Pertl, L; Kamper, S; Haas, AM; Wedrich, A ["The family history brings light into the darkness"].
Ophthalmologe. 2022; 119(2):199-202 Doi: 10.1007/s00347-021-01401-9 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Abstract (Zeitschrift)

** 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.
Web of Science

 

** 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.
Web of Science

 

** 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.
Web of Science

 

** Sieghartsleitner, E; Sunitsch, S; Rief, A; Regitnig, P; Geigl, J; Tamussino, K; Peintinger, F Somatic gene alterations in endometrial cancer and correlation with germline alterations
GEBURTSH FRAUENHEILK. 2022; 82(10): E162-E163. Doi: 10.1055/s-0042-1757051
Web of Science FullText FullText_MUG

 

** Sieghartsleitner, E; Sunitsch, S; Rief, A; Regnitnig, P; Geigl, J; Tamussino, K; Peintinger, F Somatic Gene Changes in Endometrial Cancer and Correlation with Germline Changes
GEBURTSH FRAUENHEILK. 2022; 82(6): S48-S49. Doi: 10.1055/s-0042-1750237
Web of Science FullText FullText_MUG

 

** Xiao, T; Kieninger, S; Weisschuh, N; Kohl, S; Ruther, K; Kroisel, P; Brockmann, T; Knappe, S; Kellner, U; Lagreze, W; Mazzola, P; Haack, T; Wissinger, B; Tonagel, F DNAJC30 disease-causing gene variants in a large Central European cohort of patients with inherited optic atrophy
INVEST OPHTH VIS SCI. 2022; 63(7):
Web of Science

 

© Med Uni Graz Impressum