Publications by authors named "Catherine E Cottrell"

36Publications

Infantile fibrosarcoma-like tumor driven by novel fusion consolidated with cabozantinib.

Cold Spring Harb Mol Case Stud 2020 Oct 7;6(5). Epub 2020 Oct 7.

Division of Hematology, Oncology, Blood and Marrow Transplant, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1101/mcs.a005645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552925PMC
October 2020

Somatic mosaicism correlates with clinical findings in epilepsy brain tissue.

Neurol Genet 2020 Aug 17;6(4):e460. Epub 2020 Jun 17.

The Steve and Cindy Rasmussen Institute for Genomic Medicine (K.E.M., D.C.K., K.M.S., T.A.B., E.C., K.L., V.M., H.Z., P.B., J.B., J.F., N.B., A.R.M., C.E.C., P.W., R.K.W., E.R.M.), Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH; Division of Genetic and Genomic Medicine (E.C.), Nationwide Children's Hospital, Columbus, OH; Department of Neurosurgery (A.S., J.L., J.A.P.), Nationwide Children's Hospital, Columbus, OH; Department of Pathology and Laboratory Medicine (C.R.P.), Nationwide Children's Hospital, Columbus, OH; Division of Child Neurology (A.P.O.), Nationwide Children's Hospital, Columbus, OH; Department of Radiology (J.A.R., S.H.S), Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics (D.C.K., V.M., C.E.C., J.L., P.W., R.K.W, E.R.M., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Neurosurgery (J.L., J.A.P., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Pathology (C.E.C., C.R.P.), The Ohio State University College of Medicine, Columbus, OH; and Department of Biomedical Education & Anatomy (C.R.P.), Division of Anatomy, The Ohio State University College of Medicine, Columbus, OH.

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http://dx.doi.org/10.1212/NXG.0000000000000460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323482PMC
August 2020

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

Am J Hum Genet 2019 10;105(4):734-746

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, Saint Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817554PMC
October 2019

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Eur J Med Genet 2020 Mar 12;63(3):103735. Epub 2019 Aug 12.

The Institute for Genomic Medicine at Nationwide Children's Hospital, USA; The Ohio State University College of Medicine, Department of Pathology, USA; The Ohio State University College of Medicine, Department of Pediatrics, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103735DOI Listing
March 2020

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

iScience 2019 Aug 29;18:1-10. Epub 2019 May 29.

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Biology, Johns Hopkins University, Baltimore, MD, USA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.05.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609817PMC
August 2019

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285001PMC
August 2019

Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling.

Hum Pathol 2019 04 27;86:170-181. Epub 2018 Dec 27.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2018.12.004DOI Listing
April 2019

Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience.

J Mol Diagn 2018 11 6;20(6):812-821. Epub 2018 Jul 6.

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, Vermont; Department of Pathology and Laboratory Medicine, Larner College of Medicine at The University of Vermont, Burlington, Vermont. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.06.001DOI Listing
November 2018

amplification in colorectal adenocarcinoma.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Department of Pathology and Immunology, Washington University in St. Louis, Missouri 63130, USA.

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http://dx.doi.org/10.1101/mcs.a001495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701301PMC
November 2017

Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

Mod Pathol 2017 12 28;30(12):1739-1747. Epub 2017 Jul 28.

Department of Pathology and Immunology, Division of Anatomic and Molecular Pathology, Washington University School of Medicine, St Louis, MO, USA.

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http://www.nature.com/doifinder/10.1038/modpathol.2017.90
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http://dx.doi.org/10.1038/modpathol.2017.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716882PMC
December 2017

Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.

Exp Mol Pathol 2017 02 14;102(1):156-161. Epub 2017 Jan 14.

Department of Pathology and Immunology, Washington University, St. Louis, MO, United States. Electronic address:

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http://dx.doi.org/10.1016/j.yexmp.2017.01.012DOI Listing
February 2017

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Clin Case Rep 2015 Jun 9;3(6):406-10. Epub 2015 Apr 9.

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.

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http://dx.doi.org/10.1002/ccr3.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498852PMC
June 2015

Aggressive congenital juvenile myelomonocytic leukemia associated with somatic KRAS p.G13D mutation and concurrent germline IGF1R duplication.

Leuk Lymphoma 2015 Apr 29;56(4):1175-8. Epub 2014 Sep 29.

Division of Pediatric Hematology-Oncology, Department of Pediatrics.

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http://dx.doi.org/10.3109/10428194.2014.953152DOI Listing
April 2015

Diagnostic utility of targeted next-generation sequencing in problematic cases.

Am J Surg Pathol 2014 Apr;38(4):534-41

Department of Pathology and Immunology, Washington University in St Louis, St Louis, MO.

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http://dx.doi.org/10.1097/PAS.0000000000000161DOI Listing
April 2014

Stabilization of disease after targeted therapy in a thymic carcinoma with KIT mutation detected by clinical next-generation sequencing.

J Thorac Oncol 2014 Feb;9(2):e12-6

*Genomics and Pathology Services, Department of Pathology and Immunology, †Section of Medical Oncology, Department of Medicine, and ‡Mallinckrodt Institute of Radiology, Washington University, St. Louis, Missouri.

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http://dx.doi.org/10.1097/JTO.0b013e3182a7d22eDOI Listing
February 2014

Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy.

Cancer Genet 2013 Dec 22;206(12):420-31. Epub 2013 Nov 22.

Genomics and Pathology Services, Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1016/j.cancergen.2013.11.003DOI Listing
December 2013