Anita E Beck
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Explore the profile of Anita E Beck including associated specialties, affiliations and a list of published articles.
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35
Citations
1464
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Recent Articles
1.
Paschal C, Zalusky M, Beck A, Gillentine M, Narayanan J, Damaraju N, et al.
J Mol Diagn
. 2025 Jan;
27(3):166-176.
PMID: 39756651
Current clinical testing approaches for individuals with suspected imprinting disorders are complex, often requiring multiple tests performed in a stepwise manner to make a precise molecular diagnosis. We investigated whether...
2.
Marquez J, Cech J, Paschal C, Dingmann B, Scott A, Thies J, et al.
Genet Med Open
. 2024 Nov;
2.
PMID: 39484203
Purpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or...
3.
Ebstein F, Kury S, Most V, Rosenfelt C, Scott-Boyer M, van Woerden G, et al.
Sci Transl Med
. 2023 May;
15(698):eabo3189.
PMID: 37256937
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which...
4.
Roessler F, Beck A, Susie B, Tobias B, Begtrup A, Biskup S, et al.
Am J Med Genet A
. 2022 Nov;
191(2):469-478.
PMID: 36426740
The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed...
5.
Biesecker L, Adam M, Alkuraya F, Amemiya A, Bamshad M, Beck A, et al.
Am J Hum Genet
. 2021 Sep;
108(9):1809-1810.
PMID: 34478656
No abstract available.
6.
Biesecker L, Adam M, Alkuraya F, Amemiya A, Bamshad M, Beck A, et al.
Am J Hum Genet
. 2021 Jan;
108(1):8-15.
PMID: 33417889
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized...
7.
Poskanzer S, Schultz M, Turgeon C, Vidal-Folch N, Liedtke K, Oglesbee D, et al.
Am J Med Genet A
. 2020 Oct;
185(1):213-218.
PMID: 33044030
Glycosylation is a critical post/peri-translational modification required for the appropriate development and function of the immune system. As an example, abnormalities in glycosylation can cause antibody deficiency and reduced lymphocyte...
8.
Wenger T, Bly R, Wu N, Albert C, Park J, Shieh J, et al.
Am J Med Genet A
. 2020 Jun;
182(7):1576-1591.
PMID: 32500973
More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature...
9.
Mao D, Reuter C, Ruzhnikov M, Beck A, Farrow E, Emrick L, et al.
Am J Hum Genet
. 2020 Mar;
106(4):570-583.
PMID: 32197074
EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved...
10.
Carter L, Battaglia A, Cherry A, Manning M, Ruzhnikov M, Bird L, et al.
Am J Med Genet A
. 2019 Jun;
179(8):1543-1546.
PMID: 31207089
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these...