Doris Steinemann
Overview
Explore the profile of Doris Steinemann including associated specialties, affiliations and a list of published articles.
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Articles
149
Citations
3408
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Recent Articles
11.
Luhmann J, Schmidt G, Auber B, Bergmann A, Brandau O, Louis A, et al.
Am J Med Genet A
. 2023 Apr;
191(7):1849-1857.
PMID: 37081310
Partial deletions at chromosome 7q11.23 are causative for the autosomal-dominant Williams-Beuren syndrome (WBS), whereas the partial duplication of this region leads to the 7q11.23 duplication syndrome. Both syndromes are highly...
12.
Wan R, Fander J, Zakaraia I, Lee-Kirsch M, Wolf C, Lucas N, et al.
Front Immunol
. 2022 Oct;
13:1029423.
PMID: 36275728
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 () gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly variants have been reported...
13.
Decker M, Lammens T, Ferster A, Erlacher M, Yoshimi A, Niemeyer C, et al.
Leukemia
. 2022 Oct;
36(12):2949.
PMID: 36258014
No abstract available.
14.
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, et al.
Commun Biol
. 2022 Oct;
5(1):1061.
PMID: 36203093
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis...
15.
Sandmann S, Behrens Y, Davenport C, Thol F, Heuser M, Dorfel D, et al.
Front Oncol
. 2022 Jul;
12:888114.
PMID: 35875134
Patients with myeloid neoplasia are classified by the WHO classification systems. Besides clinical and hematological criteria, cytogenetic and molecular genetic alterations highly impact treatment stratification. In routine diagnostics, a combination...
16.
Suttorp J, Luhmann J, Behrens Y, Gohring G, Steinemann D, Reinhardt D, et al.
Cancers (Basel)
. 2022 May;
14(9).
PMID: 35565187
Pediatric AML is characterized by numerous genetic aberrations (chromosomal translocations, deletions, insertions) impacting its classification for risk of treatment failure. Aberrations are described by classical cytogenetic procedures (karyotyping, FISH), which...
17.
Wan R, Schieck M, Caballero-Oteyza A, Hofmann W, Cochino A, Shcherbina A, et al.
J Clin Immunol
. 2022 Apr;
42(5):1083-1092.
PMID: 35486341
Inborn errors of immunity (IEI) are genetically driven disorders. With the advancement of sequencing technologies, a rapidly increasing number of gene defects has been identified, thereby mirroring the high heterogeneity...
18.
Ghandili S, Kluger M, Leitner T, Grahammer F, Kirchner L, Modemann F, et al.
Br J Haematol
. 2022 Apr;
198(1):199-202.
PMID: 35428972
No abstract available.
19.
Eggenschwiler R, Gschwendtberger T, Felski C, Jahn C, Langer F, Sterneckert J, et al.
Sci Rep
. 2021 Nov;
11(1):22154.
PMID: 34773059
CRISPR prime-editors are emergent tools for genome editing and offer a versatile alternative approach to HDR-based genome engineering or DNA base-editors. However, sufficient prime-editor expression levels and availability of optimized...
20.
Luhmann J, Stelter M, Wolter M, Kater J, Lentes J, Bergmann A, et al.
Cancers (Basel)
. 2021 Sep;
13(17).
PMID: 34503197
Acute lymphoblastic leukemia (ALL) is the most prevalent type of cancer occurring in children. ALL is characterized by structural and numeric genomic aberrations that strongly correlate with prognosis and clinical...