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Author Details

Caroline Astbury
Pathology and Laboratory Medicine Institute, Cleveland Clinic
2001
54
15
PMIDPaper TitleJournal TitlePublished Year
36261329Combined utility of p16 and BRAF V600E in the evaluation of spitzoid tumors: Superiority to PRAME and correlation with FISH.J Cutan Pathol2023
37345250Unique case of a <i>GLI1</i> amplified biphasic mesenchymal tumor of the orbit.Orbit2023
37468653Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.Virchows Arch2023
36507974Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
36939053HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.Am J Surg Pathol2023
35318940Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders.Genet Med2022
36055215Statement on storage and use of genetic materials.Am J Hum Genet2022
35101595A Model for Design and Implementation of a Laboratory Information-Management System Specific for Molecular Pathology Laboratory Operations.J Mol Diagn2022
32901982EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review.J Cutan Pathol2021
33864022Incidental 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).Genet Med2021
34391746MDM2 amplification in malignant Brenner tumors may play a role in progression to malignancy and aid in separation from urothelial and other ovarian carcinomas.Hum Pathol2021
33046848Addendum: Technical standards and guidelines for spinal muscular atrophy testing.Genet Med2021
30836150CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.Eur J Med Genet2020
32028044Further evidence of GABRA4 and TOP3B as autism susceptibility genes.Eur J Med Genet2020
32404922CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
32296163Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
32127695Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
30741845Uterine Inflammatory Myofibroblastic Tumor Showing an Atypical ALK Signal Pattern by FISH and DES-ALK Fusion by RNA Sequencing: A Case Report.Int J Gynecol Pathol2020
31428485Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.Case Rep Genet2019
31871800Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".Case Rep Genet2019
31236300Intramammary Angiomatoid Fibrous Histiocytoma, a Rare <i>EWSR1</i> Rearranged Mesenchymal Neoplasm in a Previously Unreported Anatomic Location with Review of the Cleveland Clinic Experience.Case Rep Pathol2019
29572065Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.Eur J Med Genet2018
28887912Safety Profile of Good Manufacturing Practice Manufactured Interferon γ-Primed Mesenchymal Stem/Stromal Cells for Clinical Trials.Stem Cells Transl Med2017
28328127Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.Am J Med Genet A2017
28535206Clinical exome sequencing reports: current informatics practice and future opportunities.J Am Med Inform Assoc2017
28746920Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.Cytogenet Genome Res2017
28521080Histology, fusion status, and outcome in metastatic rhabdomyosarcoma: A report from the Children's Oncology Group.Pediatr Blood Cancer2017
27717910A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.Eur J Med Genet2016
2763356917p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.Eur J Med Genet2016
25802880Variability in pathogenicity prediction programs: impact on clinical diagnostics.Mol Genet Genomic Med2015
23695283Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.Eur J Hum Genet2014
24821304Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.Eur J Med Genet2014
23332918Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.Am J Hum Genet2013
24455331Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.Case Rep Endocrinol2013
24080358MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.Eur J Med Genet2013
23856564A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.Eur J Med Genet2013
23895773Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.Eur J Med Genet2013
23948316Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.Forensic Sci Int Genet2013
23553538Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.Muscle Nerve2013
21480868Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.Clin Genet2012
2298782212q14 microdeletion associated with HMGA2 gene disruption and growth restriction.Am J Med Genet A2012
22786685Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.Am J Med Genet A2012
21981781Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Am J Hum Genet2011
22118749Preface: Cytogenetics.Clin Lab Med2011
22118737Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.Clin Lab Med2011
20206336Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Am J Hum Genet2010
20683981Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.Am J Med Genet A2010
21031578Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.Ann Neurol2010
20544924Novel diagnostic features of dysferlinopathies.Muscle Nerve2010
18687789A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.J Mol Diagn2008
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Collaborators

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John A Phillips
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Christian R Marshall
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James Fitch
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Bauke Ylstra
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Simon Lin
The Abigail Wexner Research Institute, Nationwide Children's Hospital
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Vernon R Sutton
Baylor College of Medicine
Co-authored papers 1
Danielle Posthuma
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Edward D Esplin
Invitae Corporation
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Douglas M Ruderfer
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Gail E Herman
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Release 1.2