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Caroline Astbury

Explore the profile of Caroline Astbury including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 54
Citations 803
Followers 0
Related Specialties
Genetics
Pathology
Molecular Biology
Top 10 Co-Authors
Julie M Gastier-Foster
Devon Lamb Thrush
Robert E Pyatt
Sayaka Hashimoto
Scott E Hickey
Shalini Reshmi
Shalini C Reshmi
Robert Pyatt
Aimee McKinney
Dennis Bartholomew
Published In
Eur J Med Genet
Genet Med
Am J Med Genet A
Am J Hum Genet
J Cutan Pathol
Affiliations
Soon will be listed here.
Recent Articles
11.
A Model for Design and Implementation of a Laboratory Information-Management System Specific for Molecular Pathology Laboratory Operations
Tomlinson E, Goodman J, Loftus M, Bitto S, Carpenter E, Oddo R, et al.
J Mol Diagn . 2022 Feb; 24(5):503-514. PMID: 35101595
The Molecular Pathology Section, Cleveland Clinic (Cleveland, OH), has undergone enhancement of its testing portfolio and processes. An Excel 2013- and paper-based data-management system was replaced with a commercially available...
12.
MDM2 amplification in malignant Brenner tumors may play a role in progression to malignancy and aid in separation from urothelial and other ovarian carcinomas
Shetty S, Habeeb O, Rivera C, Astbury C, Przybycin C, Joehlin-Price A
Hum Pathol . 2021 Aug; 117:42-50. PMID: 34391746
Malignant Brenner tumor (MBT) is diagnosed in the setting of invasive high-grade carcinoma with urothelial-like morphology and the presence of an adjacent benign Brenner tumor (BBT) or borderline Brenner tumor...
13.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Chao E, Astbury C, Deignan J, Pronold M, Reddi H, Weitzel J
Genet Med . 2021 Apr; 23(7):1179-1184. PMID: 33864022
No abstract available.
14.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing
Deignan J, Astbury C, Behlmann A, Guha S, Monaghan K, Reddi H, et al.
Genet Med . 2020 Oct; 23(12):2462. PMID: 33046848
No abstract available.
15.
EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review
Habeeb O, Korty K, Azzato E, Astbury C, Farkas D, Ko J, et al.
J Cutan Pathol . 2020 Sep; 48(2):255-262. PMID: 32901982
We report the largest series to date (N = 6) of EWSR1-SMAD3 rearranged fibroblastic tumor. Initially described in 2018, the tumor features a marked female predominance (F:M, 5:1, mean age...
16.
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Deignan J, Astbury C, Cutting G, Del Gaudio D, Gregg A, Grody W, et al.
Genet Med . 2020 May; 22(8):1288-1295. PMID: 32404922
Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal...
17.
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Del Gaudio D, Shinawi M, Astbury C, Tayeh M, Deak K, Raca G
Genet Med . 2020 Apr; 22(7):1133-1141. PMID: 32296163
No abstract available.
18.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)
South S, McClure M, Astbury C, Bashford M, Benkendorf J, Esplin E, et al.
Genet Med . 2020 Mar; 22(6):983-985. PMID: 32127695
No abstract available.
19.
Further evidence of GABRA4 and TOP3B as autism susceptibility genes
Riley J, Delahunty C, Alsadah A, Mazzola S, Astbury C
Eur J Med Genet . 2020 Feb; 63(5):103876. PMID: 32028044
Chromosomal copy number variants (CNVs) are known contributors to neurodevelopmental conditions such as autism spectrum disorder (ASD). Both array comparative genomic hybridization and next-generation sequencing techniques have led to an...
20.
Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features"
Riley J, Stefaniuk C, Erenberg F, Erwin A, Palange L, Astbury C
Case Rep Genet . 2019 Dec; 2019:4361630. PMID: 31871800
[This corrects the article DOI: 10.1155/2019/5384295.].