Catherine E Cottrell
Overview
Explore the profile of Catherine E Cottrell including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
75
Citations
916
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Kebede A, Garfinkle E, Mathew M, Varga E, Colace S, Wheeler G, et al.
Front Oncol
. 2024 Dec;
14:1498409.
PMID: 39687881
Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologic malignancies at...
2.
Wedemeyer M, Ding T, Garfinkle E, Westfall J, Navarro J, Hernandez Gonzalez M, et al.
Sci Rep
. 2024 Oct;
14(1):25440.
PMID: 39455600
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although...
3.
Shatara M, Schieffer K, Melas M, Varga E, Thomas D, Bucknor B, et al.
Front Oncol
. 2024 Sep;
14:1453309.
PMID: 39309743
Introduction: In the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic...
4.
Mardis E, Potter S, Schieffer K, Varga E, Mathew M, Costello H, et al.
Neurooncol Adv
. 2024 Jul;
6(1):vdae099.
PMID: 39036440
Background: Identifying germline predisposition in CNS malignancies is of increasing clinical importance, as it contributes to diagnosis and prognosis, and determines aspects of treatment. The inclusion of germline testing has...
5.
Dsouza N, Cottrell C, Davies O, Tollefson M, Frieden I, Basel D, et al.
Life (Basel)
. 2024 Mar;
14(3).
PMID: 38541623
The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of and are associated...
6.
Wijeratne S, E Hernandez Gonzalez M, Roach K, Miller K, Schieffer K, Fitch J, et al.
BMC Genomics
. 2024 Jan;
25(1):122.
PMID: 38287261
Background: Cancers exhibit complex transcriptomes with aberrant splicing that induces isoform-level differential expression compared to non-diseased tissues. Transcriptomic profiling using short-read sequencing has utility in providing a cost-effective approach for...
7.
Macke E, Miller A, Stonerock E, Olshefski R, Zajo K, Bedrosian T, et al.
Neurooncol Adv
. 2024 Jan;
6(1):vdad163.
PMID: 38213835
Retinoblastoma is an ocular cancer associated with genomic variation in the gene. In individuals with bilateral retinoblastoma, a germline variant in is identified in virtually all cases. We describe herein...
8.
Green S, Hoover T, Doss D, Davidow K, Walter A, Cottrell C, et al.
Neuropathol Appl Neurobiol
. 2023 Dec;
50(1):e12945.
PMID: 38093348
No abstract available.
9.
Klawinski D, Cottrell C, Schieffer K, Indyk J, Gandhi K, Mardis E, et al.
Pediatr Blood Cancer
. 2023 Oct;
71(1):e30739.
PMID: 37877896
Brainstem injury occurs secondary to radiation to the posterior fossa in up to 2% of pediatric patients. It may occur after months to years after treatment. It has been associated...
10.
Meyer A, Ma J, Brock G, Hashimoto S, Cottrell C, Mathew M, et al.
Muscle Nerve
. 2023 Oct;
68(6):833-840.
PMID: 37789688
Introduction/aims: Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the...