Elisabeth Graf
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Explore the profile of Elisabeth Graf including associated specialties, affiliations and a list of published articles.
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83
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5080
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Recent Articles
1.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain
. 2025 Feb;
PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
2.
Wenderholm K, Brunet T, Graf E, Arens M, Martens E, Winkelmann J, et al.
Gene
. 2024 Nov;
935:149063.
PMID: 39486665
Background: Exome sequencing has been established as a fundamental tool in genetic diagnostics. It may also provide information about variants in genes unrelated to the primary purpose, so-called secondary findings....
3.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
4.
Jacob M, Brugger M, Andres S, Wagner M, Graf E, Berutti R, et al.
Neuropediatrics
. 2024 Mar;
55(4):260-264.
PMID: 38547905
In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. We report the case of a...
5.
Goetz T, Steiner W, Graf E, Stempfer L, Ristl C, Rupprecht F, et al.
Front Psychol
. 2024 Feb;
14:1271422.
PMID: 38343893
The use of the Experience Sampling Method (ESM), which involves repeated assessments in people's daily lives, has increased in popularity in psychology and associated disciplines in recent years. A rather...
6.
Krenn M, Wagner M, Zulehner G, Weng R, Jager F, Keritam O, et al.
J Neurol
. 2023 Dec;
271(4):1937-1946.
PMID: 38127101
Background: Neuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the advancements in genomic medicine, many patients remain without a diagnosis. Here, we investigate...
7.
Dzinovic I, Graf E, Brugger M, Berutti R, Prihodova I, Blaschek A, et al.
Mov Disord Clin Pract
. 2023 Jul;
10(7):1159-1161.
PMID: 37476319
No abstract available.
8.
Saini M, Schmidleitner L, Moreno H, Donato E, Falcone M, Bartsch J, et al.
Cell Rep
. 2023 May;
42(6):112533.
PMID: 37257449
The acquisition of mesenchymal traits is considered a hallmark of breast cancer progression. However, the functional relevance of epithelial-to-mesenchymal transition (EMT) remains controversial and context dependent. Here, we isolate epithelial...
9.
Reijnders M, Seibt A, Brugger M, Lamers I, Ott T, Klaas O, et al.
Genet Med
. 2023 Apr;
25(7):100838.
PMID: 37057673
Purpose: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the...
10.
Averdunk L, Huetzen M, Moreno-Andres D, Kalb R, McKee S, Hsieh T, et al.
Genet Med
. 2023 Apr;
25(7):100836.
PMID: 37013901
Purpose: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease...